---
_id: '7712'
abstract:
- lang: eng
text: 'Male pattern baldness (MPB) is a sex-limited, age-related, complex trait.
We study MPB genetics in 205,327 European males from the UK Biobank. Here we show
that MPB is strongly heritable and polygenic, with pedigree-heritability of 0.62
(SE = 0.03) estimated from close relatives, and SNP-heritability of 0.39 (SE = 0.01)
from conventionally-unrelated males. We detect 624 near-independent genome-wide
loci, contributing SNP-heritability of 0.25 (SE = 0.01), of which 26 X-chromosome
loci explain 11.6%. Autosomal genetic variance is enriched for common variants
and regions of lower linkage disequilibrium. We identify plausible genetic correlations
between MPB and multiple sex-limited markers of earlier puberty, increased bone
mineral density (rg = 0.15) and pancreatic β-cell function (rg = 0.12). Correlations
with reproductive traits imply an effect on fitness, consistent with an estimated
linear selection gradient of -0.018 per MPB standard deviation. Overall, we provide
genetic insights into MPB: a phenotype of interest in its own right, with value
as a model sex-limited, complex trait.'
article_number: '5407'
article_processing_charge: No
article_type: original
author:
- first_name: Chloe X.
full_name: Yap, Chloe X.
last_name: Yap
- first_name: Julia
full_name: Sidorenko, Julia
last_name: Sidorenko
- first_name: Yang
full_name: Wu, Yang
last_name: Wu
- first_name: Kathryn E.
full_name: Kemper, Kathryn E.
last_name: Kemper
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
citation:
ama: Yap CX, Sidorenko J, Wu Y, et al. Dissection of genetic variation and evidence
for pleiotropy in male pattern baldness. Nature Communications. 2018;9.
doi:10.1038/s41467-018-07862-y
apa: Yap, C. X., Sidorenko, J., Wu, Y., Kemper, K. E., Yang, J., Wray, N. R., …
Visscher, P. M. (2018). Dissection of genetic variation and evidence for pleiotropy
in male pattern baldness. Nature Communications. Springer Nature. https://doi.org/10.1038/s41467-018-07862-y
chicago: Yap, Chloe X., Julia Sidorenko, Yang Wu, Kathryn E. Kemper, Jian Yang,
Naomi R. Wray, Matthew Richard Robinson, and Peter M. Visscher. “Dissection of
Genetic Variation and Evidence for Pleiotropy in Male Pattern Baldness.” Nature
Communications. Springer Nature, 2018. https://doi.org/10.1038/s41467-018-07862-y.
ieee: C. X. Yap et al., “Dissection of genetic variation and evidence for
pleiotropy in male pattern baldness,” Nature Communications, vol. 9. Springer
Nature, 2018.
ista: Yap CX, Sidorenko J, Wu Y, Kemper KE, Yang J, Wray NR, Robinson MR, Visscher
PM. 2018. Dissection of genetic variation and evidence for pleiotropy in male
pattern baldness. Nature Communications. 9, 5407.
mla: Yap, Chloe X., et al. “Dissection of Genetic Variation and Evidence for Pleiotropy
in Male Pattern Baldness.” Nature Communications, vol. 9, 5407, Springer
Nature, 2018, doi:10.1038/s41467-018-07862-y.
short: C.X. Yap, J. Sidorenko, Y. Wu, K.E. Kemper, J. Yang, N.R. Wray, M.R. Robinson,
P.M. Visscher, Nature Communications 9 (2018).
date_created: 2020-04-30T10:41:19Z
date_published: 2018-12-20T00:00:00Z
date_updated: 2021-01-12T08:15:02Z
day: '20'
doi: 10.1038/s41467-018-07862-y
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-018-07862-y
month: '12'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Dissection of genetic variation and evidence for pleiotropy in male pattern
baldness
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7713'
abstract:
- lang: eng
text: There are mean differences in complex traits among global human populations.
We hypothesize that part of the phenotypic differentiation is due to natural selection.
To address this hypothesis, we assess the differentiation in allele frequencies
of trait-associated SNPs among African, Eastern Asian, and European populations
for ten complex traits using data of large sample size (up to ~405,000). We show
that SNPs associated with height (P=2.46×10−5), waist-to-hip ratio (P=2.77×10−4),
and schizophrenia (P=3.96×10−5) are significantly more differentiated among populations
than matched “control” SNPs, suggesting that these trait-associated SNPs have
undergone natural selection. We further find that SNPs associated with height
(P=2.01×10−6) and schizophrenia (P=5.16×10−18) show significantly higher variance
in linkage disequilibrium (LD) scores across populations than control SNPs. Our
results support the hypothesis that natural selection has shaped the genetic differentiation
of complex traits, such as height and schizophrenia, among worldwide populations.
article_number: '1865'
article_processing_charge: No
article_type: original
author:
- first_name: Jing
full_name: Guo, Jing
last_name: Guo
- first_name: Yang
full_name: Wu, Yang
last_name: Wu
- first_name: Zhihong
full_name: Zhu, Zhihong
last_name: Zhu
- first_name: Zhili
full_name: Zheng, Zhili
last_name: Zheng
- first_name: Maciej
full_name: Trzaskowski, Maciej
last_name: Trzaskowski
- first_name: Jian
full_name: Zeng, Jian
last_name: Zeng
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
citation:
ama: Guo J, Wu Y, Zhu Z, et al. Global genetic differentiation of complex traits
shaped by natural selection in humans. Nature Communications. 2018;9. doi:10.1038/s41467-018-04191-y
apa: Guo, J., Wu, Y., Zhu, Z., Zheng, Z., Trzaskowski, M., Zeng, J., … Yang, J.
(2018). Global genetic differentiation of complex traits shaped by natural selection
in humans. Nature Communications. Springer Nature. https://doi.org/10.1038/s41467-018-04191-y
chicago: Guo, Jing, Yang Wu, Zhihong Zhu, Zhili Zheng, Maciej Trzaskowski, Jian
Zeng, Matthew Richard Robinson, Peter M. Visscher, and Jian Yang. “Global Genetic
Differentiation of Complex Traits Shaped by Natural Selection in Humans.” Nature
Communications. Springer Nature, 2018. https://doi.org/10.1038/s41467-018-04191-y.
ieee: J. Guo et al., “Global genetic differentiation of complex traits shaped
by natural selection in humans,” Nature Communications, vol. 9. Springer
Nature, 2018.
ista: Guo J, Wu Y, Zhu Z, Zheng Z, Trzaskowski M, Zeng J, Robinson MR, Visscher
PM, Yang J. 2018. Global genetic differentiation of complex traits shaped by natural
selection in humans. Nature Communications. 9, 1865.
mla: Guo, Jing, et al. “Global Genetic Differentiation of Complex Traits Shaped
by Natural Selection in Humans.” Nature Communications, vol. 9, 1865, Springer
Nature, 2018, doi:10.1038/s41467-018-04191-y.
short: J. Guo, Y. Wu, Z. Zhu, Z. Zheng, M. Trzaskowski, J. Zeng, M.R. Robinson,
P.M. Visscher, J. Yang, Nature Communications 9 (2018).
date_created: 2020-04-30T10:41:36Z
date_published: 2018-05-14T00:00:00Z
date_updated: 2021-01-12T08:15:02Z
day: '14'
doi: 10.1038/s41467-018-04191-y
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-018-04191-y
month: '05'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Global genetic differentiation of complex traits shaped by natural selection
in humans
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7714'
abstract:
- lang: eng
text: Health risk factors such as body mass index (BMI) and serum cholesterol are
associated with many common diseases. It often remains unclear whether the risk
factors are cause or consequence of disease, or whether the associations are the
result of confounding. We develop and apply a method (called GSMR) that performs
a multi-SNP Mendelian randomization analysis using summary-level data from genome-wide
association studies to test the causal associations of BMI, waist-to-hip ratio,
serum cholesterols, blood pressures, height, and years of schooling (EduYears)
with common diseases (sample sizes of up to 405,072). We identify a number of
causal associations including a protective effect of LDL-cholesterol against type-2
diabetes (T2D) that might explain the side effects of statins on T2D, a protective
effect of EduYears against Alzheimer’s disease, and bidirectional associations
with opposite effects (e.g., higher BMI increases the risk of T2D but the effect
of T2D on BMI is negative).
article_number: '224'
article_processing_charge: No
article_type: original
author:
- first_name: Zhihong
full_name: Zhu, Zhihong
last_name: Zhu
- first_name: Zhili
full_name: Zheng, Zhili
last_name: Zheng
- first_name: Futao
full_name: Zhang, Futao
last_name: Zhang
- first_name: Yang
full_name: Wu, Yang
last_name: Wu
- first_name: Maciej
full_name: Trzaskowski, Maciej
last_name: Trzaskowski
- first_name: Robert
full_name: Maier, Robert
last_name: Maier
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: John J.
full_name: McGrath, John J.
last_name: McGrath
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
citation:
ama: Zhu Z, Zheng Z, Zhang F, et al. Causal associations between risk factors and
common diseases inferred from GWAS summary data. Nature Communications.
2018;9. doi:10.1038/s41467-017-02317-2
apa: Zhu, Z., Zheng, Z., Zhang, F., Wu, Y., Trzaskowski, M., Maier, R., … Yang,
J. (2018). Causal associations between risk factors and common diseases inferred
from GWAS summary data. Nature Communications. Springer Nature. https://doi.org/10.1038/s41467-017-02317-2
chicago: Zhu, Zhihong, Zhili Zheng, Futao Zhang, Yang Wu, Maciej Trzaskowski, Robert
Maier, Matthew Richard Robinson, et al. “Causal Associations between Risk Factors
and Common Diseases Inferred from GWAS Summary Data.” Nature Communications.
Springer Nature, 2018. https://doi.org/10.1038/s41467-017-02317-2.
ieee: Z. Zhu et al., “Causal associations between risk factors and common
diseases inferred from GWAS summary data,” Nature Communications, vol.
9. Springer Nature, 2018.
ista: Zhu Z, Zheng Z, Zhang F, Wu Y, Trzaskowski M, Maier R, Robinson MR, McGrath
JJ, Visscher PM, Wray NR, Yang J. 2018. Causal associations between risk factors
and common diseases inferred from GWAS summary data. Nature Communications. 9,
224.
mla: Zhu, Zhihong, et al. “Causal Associations between Risk Factors and Common Diseases
Inferred from GWAS Summary Data.” Nature Communications, vol. 9, 224, Springer
Nature, 2018, doi:10.1038/s41467-017-02317-2.
short: Z. Zhu, Z. Zheng, F. Zhang, Y. Wu, M. Trzaskowski, R. Maier, M.R. Robinson,
J.J. McGrath, P.M. Visscher, N.R. Wray, J. Yang, Nature Communications 9 (2018).
date_created: 2020-04-30T10:41:55Z
date_published: 2018-01-15T00:00:00Z
date_updated: 2021-01-12T08:15:03Z
day: '15'
doi: 10.1038/s41467-017-02317-2
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-017-02317-2
month: '01'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Causal associations between risk factors and common diseases inferred from
GWAS summary data
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7715'
abstract:
- lang: eng
text: Preference for mates with similar phenotypes; that is, assortative mating,
is widely observed in humans1,2,3,4,5 and has evolutionary consequences6,7,8.
Under Fisher's classical theory6, assortative mating is predicted to induce a
signature in the genome at trait-associated loci that can be detected and quantified.
Here, we develop and apply a method to quantify assortative mating on a specific
trait by estimating the correlation (θ) between genetic predictors of the trait
from single nucleotide polymorphisms on odd- versus even-numbered chromosomes.
We show by theory and simulation that the effect of assortative mating can be
quantified in the presence of population stratification. We applied this approach
to 32 complex traits and diseases using single nucleotide polymorphism data from
~400,000 unrelated individuals of European ancestry. We found significant evidence
of assortative mating for height (θ = 3.2%) and educational attainment (θ = 2.7%),
both of which were consistent with theoretical predictions. Overall, our results
imply that assortative mating involves multiple traits and affects the genomic
architecture of loci that are associated with these traits, and that the consequence
of mate choice can be detected from a random sample of genomes.
article_processing_charge: No
article_type: original
author:
- first_name: Loic
full_name: Yengo, Loic
last_name: Yengo
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Matthew C.
full_name: Keller, Matthew C.
last_name: Keller
- first_name: Kathryn E.
full_name: Kemper, Kathryn E.
last_name: Kemper
- first_name: Yuanhao
full_name: Yang, Yuanhao
last_name: Yang
- first_name: Maciej
full_name: Trzaskowski, Maciej
last_name: Trzaskowski
- first_name: Jacob
full_name: Gratten, Jacob
last_name: Gratten
- first_name: Patrick
full_name: Turley, Patrick
last_name: Turley
- first_name: David
full_name: Cesarini, David
last_name: Cesarini
- first_name: Daniel J.
full_name: Benjamin, Daniel J.
last_name: Benjamin
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Michael E.
full_name: Goddard, Michael E.
last_name: Goddard
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
citation:
ama: Yengo L, Robinson MR, Keller MC, et al. Imprint of assortative mating on the
human genome. Nature Human Behaviour. 2018;2(12):948-954. doi:10.1038/s41562-018-0476-3
apa: Yengo, L., Robinson, M. R., Keller, M. C., Kemper, K. E., Yang, Y., Trzaskowski,
M., … Visscher, P. M. (2018). Imprint of assortative mating on the human genome.
Nature Human Behaviour. Springer Nature. https://doi.org/10.1038/s41562-018-0476-3
chicago: Yengo, Loic, Matthew Richard Robinson, Matthew C. Keller, Kathryn E. Kemper,
Yuanhao Yang, Maciej Trzaskowski, Jacob Gratten, et al. “Imprint of Assortative
Mating on the Human Genome.” Nature Human Behaviour. Springer Nature, 2018.
https://doi.org/10.1038/s41562-018-0476-3.
ieee: L. Yengo et al., “Imprint of assortative mating on the human genome,”
Nature Human Behaviour, vol. 2, no. 12. Springer Nature, pp. 948–954, 2018.
ista: Yengo L, Robinson MR, Keller MC, Kemper KE, Yang Y, Trzaskowski M, Gratten
J, Turley P, Cesarini D, Benjamin DJ, Wray NR, Goddard ME, Yang J, Visscher PM.
2018. Imprint of assortative mating on the human genome. Nature Human Behaviour.
2(12), 948–954.
mla: Yengo, Loic, et al. “Imprint of Assortative Mating on the Human Genome.” Nature
Human Behaviour, vol. 2, no. 12, Springer Nature, 2018, pp. 948–54, doi:10.1038/s41562-018-0476-3.
short: L. Yengo, M.R. Robinson, M.C. Keller, K.E. Kemper, Y. Yang, M. Trzaskowski,
J. Gratten, P. Turley, D. Cesarini, D.J. Benjamin, N.R. Wray, M.E. Goddard, J.
Yang, P.M. Visscher, Nature Human Behaviour 2 (2018) 948–954.
date_created: 2020-04-30T10:42:12Z
date_published: 2018-11-26T00:00:00Z
date_updated: 2021-01-12T08:15:03Z
day: '26'
doi: 10.1038/s41562-018-0476-3
extern: '1'
intvolume: ' 2'
issue: '12'
language:
- iso: eng
month: '11'
oa_version: None
page: 948-954
publication: Nature Human Behaviour
publication_identifier:
issn:
- 2397-3374
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Imprint of assortative mating on the human genome
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 2
year: '2018'
...
---
_id: '7716'
abstract:
- lang: eng
text: Genomic prediction has the potential to contribute to precision medicine.
However, to date, the utility of such predictors is limited due to low accuracy
for most traits. Here theory and simulation study are used to demonstrate that
widespread pleiotropy among phenotypes can be utilised to improve genomic risk
prediction. We show how a genetic predictor can be created as a weighted index
that combines published genome-wide association study (GWAS) summary statistics
across many different traits. We apply this framework to predict risk of schizophrenia
and bipolar disorder in the Psychiatric Genomics consortium data, finding substantial
heterogeneity in prediction accuracy increases across cohorts. For six additional
phenotypes in the UK Biobank data, we find increases in prediction accuracy ranging
from 0.7% for height to 47% for type 2 diabetes, when using a multi-trait predictor
that combines published summary statistics from multiple traits, as compared to
a predictor based only on one trait.
article_number: '989'
article_processing_charge: No
article_type: original
author:
- first_name: Robert M.
full_name: Maier, Robert M.
last_name: Maier
- first_name: Zhihong
full_name: Zhu, Zhihong
last_name: Zhu
- first_name: Sang Hong
full_name: Lee, Sang Hong
last_name: Lee
- first_name: Maciej
full_name: Trzaskowski, Maciej
last_name: Trzaskowski
- first_name: Douglas M.
full_name: Ruderfer, Douglas M.
last_name: Ruderfer
- first_name: Eli A.
full_name: Stahl, Eli A.
last_name: Stahl
- first_name: Stephan
full_name: Ripke, Stephan
last_name: Ripke
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
citation:
ama: Maier RM, Zhu Z, Lee SH, et al. Improving genetic prediction by leveraging
genetic correlations among human diseases and traits. Nature Communications.
2018;9. doi:10.1038/s41467-017-02769-6
apa: Maier, R. M., Zhu, Z., Lee, S. H., Trzaskowski, M., Ruderfer, D. M., Stahl,
E. A., … Robinson, M. R. (2018). Improving genetic prediction by leveraging genetic
correlations among human diseases and traits. Nature Communications. Springer
Nature. https://doi.org/10.1038/s41467-017-02769-6
chicago: Maier, Robert M., Zhihong Zhu, Sang Hong Lee, Maciej Trzaskowski, Douglas
M. Ruderfer, Eli A. Stahl, Stephan Ripke, et al. “Improving Genetic Prediction
by Leveraging Genetic Correlations among Human Diseases and Traits.” Nature
Communications. Springer Nature, 2018. https://doi.org/10.1038/s41467-017-02769-6.
ieee: R. M. Maier et al., “Improving genetic prediction by leveraging genetic
correlations among human diseases and traits,” Nature Communications, vol.
9. Springer Nature, 2018.
ista: Maier RM, Zhu Z, Lee SH, Trzaskowski M, Ruderfer DM, Stahl EA, Ripke S, Wray
NR, Yang J, Visscher PM, Robinson MR. 2018. Improving genetic prediction by leveraging
genetic correlations among human diseases and traits. Nature Communications. 9,
989.
mla: Maier, Robert M., et al. “Improving Genetic Prediction by Leveraging Genetic
Correlations among Human Diseases and Traits.” Nature Communications, vol.
9, 989, Springer Nature, 2018, doi:10.1038/s41467-017-02769-6.
short: R.M. Maier, Z. Zhu, S.H. Lee, M. Trzaskowski, D.M. Ruderfer, E.A. Stahl,
S. Ripke, N.R. Wray, J. Yang, P.M. Visscher, M.R. Robinson, Nature Communications
9 (2018).
date_created: 2020-04-30T10:42:29Z
date_published: 2018-03-07T00:00:00Z
date_updated: 2021-01-12T08:15:03Z
day: '07'
doi: 10.1038/s41467-017-02769-6
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-017-02769-6
month: '03'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Improving genetic prediction by leveraging genetic correlations among human
diseases and traits
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7717'
abstract:
- lang: eng
text: "Background: DNA methylation levels change along with age, but few studies
have examined the variation in the rate of such changes between individuals.\r\nMethods:
We performed a longitudinal analysis to quantify the variation in the rate of
change of DNA methylation between individuals using whole blood DNA methylation
array profiles collected at 2–4 time points (N = 2894) in 954 individuals (67–90
years).\r\nResults: After stringent quality control, we identified 1507 DNA methylation
CpG sites (rsCpGs) with statistically significant variation in the rate of change
(random slope) of DNA methylation among individuals in a mixed linear model analysis.
Genes in the vicinity of these rsCpGs were found to be enriched in Homeobox transcription
factors and the Wnt signalling pathway, both of which are related to ageing processes.
Furthermore, we investigated the SNP effect on the random slope. We found that
4 out of 1507 rsCpGs had one significant (P < 5 × 10−8/1507) SNP effect and 343
rsCpGs had at least one SNP effect (436 SNP-probe pairs) reaching genome-wide
significance (P < 5 × 10−8). Ninety-five percent of the significant (P < 5 × 10−8)
SNPs are on different chromosomes from their corresponding probes.\r\nConclusions:
We identified CpG sites that have variability in the rate of change of DNA methylation
between individuals, and our results suggest a genetic basis of this variation.
Genes around these CpG sites have been reported to be involved in the ageing process."
article_number: '75'
article_processing_charge: No
article_type: original
author:
- first_name: Qian
full_name: Zhang, Qian
last_name: Zhang
- first_name: Riccardo E
full_name: Marioni, Riccardo E
last_name: Marioni
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Jon
full_name: Higham, Jon
last_name: Higham
- first_name: Duncan
full_name: Sproul, Duncan
last_name: Sproul
- first_name: Naomi R
full_name: Wray, Naomi R
last_name: Wray
- first_name: Ian J
full_name: Deary, Ian J
last_name: Deary
- first_name: Allan F
full_name: McRae, Allan F
last_name: McRae
- first_name: Peter M
full_name: Visscher, Peter M
last_name: Visscher
citation:
ama: Zhang Q, Marioni RE, Robinson MR, et al. Genotype effects contribute to variation
in longitudinal methylome patterns in older people. Genome Medicine. 2018;10(1).
doi:10.1186/s13073-018-0585-7
apa: Zhang, Q., Marioni, R. E., Robinson, M. R., Higham, J., Sproul, D., Wray, N.
R., … Visscher, P. M. (2018). Genotype effects contribute to variation in longitudinal
methylome patterns in older people. Genome Medicine. Springer Nature. https://doi.org/10.1186/s13073-018-0585-7
chicago: Zhang, Qian, Riccardo E Marioni, Matthew Richard Robinson, Jon Higham,
Duncan Sproul, Naomi R Wray, Ian J Deary, Allan F McRae, and Peter M Visscher.
“Genotype Effects Contribute to Variation in Longitudinal Methylome Patterns in
Older People.” Genome Medicine. Springer Nature, 2018. https://doi.org/10.1186/s13073-018-0585-7.
ieee: Q. Zhang et al., “Genotype effects contribute to variation in longitudinal
methylome patterns in older people,” Genome Medicine, vol. 10, no. 1. Springer
Nature, 2018.
ista: Zhang Q, Marioni RE, Robinson MR, Higham J, Sproul D, Wray NR, Deary IJ, McRae
AF, Visscher PM. 2018. Genotype effects contribute to variation in longitudinal
methylome patterns in older people. Genome Medicine. 10(1), 75.
mla: Zhang, Qian, et al. “Genotype Effects Contribute to Variation in Longitudinal
Methylome Patterns in Older People.” Genome Medicine, vol. 10, no. 1, 75,
Springer Nature, 2018, doi:10.1186/s13073-018-0585-7.
short: Q. Zhang, R.E. Marioni, M.R. Robinson, J. Higham, D. Sproul, N.R. Wray, I.J.
Deary, A.F. McRae, P.M. Visscher, Genome Medicine 10 (2018).
date_created: 2020-04-30T10:42:50Z
date_published: 2018-10-22T00:00:00Z
date_updated: 2021-01-12T08:15:04Z
day: '22'
doi: 10.1186/s13073-018-0585-7
extern: '1'
intvolume: ' 10'
issue: '1'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1186/s13073-018-0585-7
month: '10'
oa: 1
oa_version: Published Version
publication: Genome Medicine
publication_identifier:
issn:
- 1756-994X
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Genotype effects contribute to variation in longitudinal methylome patterns
in older people
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 10
year: '2018'
...
---
_id: '7718'
abstract:
- lang: eng
text: Flores Island, Indonesia, was inhabited by the small-bodied hominin species
Homo floresiensis, which has an unknown evolutionary relationship to modern humans.
This island is also home to an extant human pygmy population. Here we describe
genome-scale single-nucleotide polymorphism data and whole-genome sequences from
a contemporary human pygmy population living on Flores near the cave where H.
floresiensis was found. The genomes of Flores pygmies reveal a complex history
of admixture with Denisovans and Neanderthals but no evidence for gene flow with
other archaic hominins. Modern individuals bear the signatures of recent positive
selection encompassing the FADS (fatty acid desaturase) gene cluster, likely related
to diet, and polygenic selection acting on standing variation that contributed
to their short-stature phenotype. Thus, multiple independent instances of hominin
insular dwarfism occurred on Flores.
article_processing_charge: No
article_type: original
author:
- first_name: Serena
full_name: Tucci, Serena
last_name: Tucci
- first_name: Samuel H.
full_name: Vohr, Samuel H.
last_name: Vohr
- first_name: Rajiv C.
full_name: McCoy, Rajiv C.
last_name: McCoy
- first_name: Benjamin
full_name: Vernot, Benjamin
last_name: Vernot
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Chiara
full_name: Barbieri, Chiara
last_name: Barbieri
- first_name: Brad J.
full_name: Nelson, Brad J.
last_name: Nelson
- first_name: Wenqing
full_name: Fu, Wenqing
last_name: Fu
- first_name: Gludhug A.
full_name: Purnomo, Gludhug A.
last_name: Purnomo
- first_name: Herawati
full_name: Sudoyo, Herawati
last_name: Sudoyo
- first_name: Evan E.
full_name: Eichler, Evan E.
last_name: Eichler
- first_name: Guido
full_name: Barbujani, Guido
last_name: Barbujani
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Joshua M.
full_name: Akey, Joshua M.
last_name: Akey
- first_name: Richard E.
full_name: Green, Richard E.
last_name: Green
citation:
ama: Tucci S, Vohr SH, McCoy RC, et al. Evolutionary history and adaptation of a
human pygmy population of Flores Island, Indonesia. Science. 2018;361(6401):511-516.
doi:10.1126/science.aar8486
apa: Tucci, S., Vohr, S. H., McCoy, R. C., Vernot, B., Robinson, M. R., Barbieri,
C., … Green, R. E. (2018). Evolutionary history and adaptation of a human pygmy
population of Flores Island, Indonesia. Science. American Association for
the Advancement of Science. https://doi.org/10.1126/science.aar8486
chicago: Tucci, Serena, Samuel H. Vohr, Rajiv C. McCoy, Benjamin Vernot, Matthew
Richard Robinson, Chiara Barbieri, Brad J. Nelson, et al. “Evolutionary History
and Adaptation of a Human Pygmy Population of Flores Island, Indonesia.” Science.
American Association for the Advancement of Science, 2018. https://doi.org/10.1126/science.aar8486.
ieee: S. Tucci et al., “Evolutionary history and adaptation of a human pygmy
population of Flores Island, Indonesia,” Science, vol. 361, no. 6401. American
Association for the Advancement of Science, pp. 511–516, 2018.
ista: Tucci S, Vohr SH, McCoy RC, Vernot B, Robinson MR, Barbieri C, Nelson BJ,
Fu W, Purnomo GA, Sudoyo H, Eichler EE, Barbujani G, Visscher PM, Akey JM, Green
RE. 2018. Evolutionary history and adaptation of a human pygmy population of Flores
Island, Indonesia. Science. 361(6401), 511–516.
mla: Tucci, Serena, et al. “Evolutionary History and Adaptation of a Human Pygmy
Population of Flores Island, Indonesia.” Science, vol. 361, no. 6401, American
Association for the Advancement of Science, 2018, pp. 511–16, doi:10.1126/science.aar8486.
short: S. Tucci, S.H. Vohr, R.C. McCoy, B. Vernot, M.R. Robinson, C. Barbieri, B.J.
Nelson, W. Fu, G.A. Purnomo, H. Sudoyo, E.E. Eichler, G. Barbujani, P.M. Visscher,
J.M. Akey, R.E. Green, Science 361 (2018) 511–516.
date_created: 2020-04-30T10:43:24Z
date_published: 2018-08-03T00:00:00Z
date_updated: 2021-01-12T08:15:04Z
day: '03'
doi: 10.1126/science.aar8486
extern: '1'
external_id:
pmid:
- '30072539'
intvolume: ' 361'
issue: '6401'
language:
- iso: eng
month: '08'
oa_version: None
page: 511-516
pmid: 1
publication: Science
publication_identifier:
issn:
- 0036-8075
- 1095-9203
publication_status: published
publisher: American Association for the Advancement of Science
quality_controlled: '1'
status: public
title: Evolutionary history and adaptation of a human pygmy population of Flores Island,
Indonesia
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 361
year: '2018'
...
---
_id: '7721'
abstract:
- lang: eng
text: 'The availability of genome-wide genetic data on hundreds of thousands of
people has led to an equally rapid growth in methodologies available to analyse
these data. While the motivation for undertaking genome-wide association studies
(GWAS) is identification of genetic markers associated with complex traits, once
generated these data can be used for many other analyses. GWAS have demonstrated
that complex traits exhibit a highly polygenic genetic architecture, often with
shared genetic risk factors across traits. New methods to analyse data from GWAS
are increasingly being used to address a diverse set of questions about the aetiology
of complex traits and diseases, including psychiatric disorders. Here, we give
an overview of some of these methods and present examples of how they have contributed
to our understanding of psychiatric disorders. We consider: (i) estimation of
the extent of genetic influence on traits, (ii) uncovering of shared genetic control
between traits, (iii) predictions of genetic risk for individuals, (iv) uncovering
of causal relationships between traits, (v) identifying causal single-nucleotide
polymorphisms and genes or (vi) the detection of genetic heterogeneity. This classification
helps organise the large number of recently developed methods, although some could
be placed in more than one category. While some methods require GWAS data on individual
people, others simply use GWAS summary statistics data, allowing novel well-powered
analyses to be conducted at a low computational burden.'
article_processing_charge: No
article_type: original
author:
- first_name: R. M.
full_name: Maier, R. M.
last_name: Maier
- first_name: P. M.
full_name: Visscher, P. M.
last_name: Visscher
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: N. R.
full_name: Wray, N. R.
last_name: Wray
citation:
ama: 'Maier RM, Visscher PM, Robinson MR, Wray NR. Embracing polygenicity: A review
of methods and tools for psychiatric genetics research. Psychological Medicine.
2018;48(7):1055-1067. doi:10.1017/s0033291717002318'
apa: 'Maier, R. M., Visscher, P. M., Robinson, M. R., & Wray, N. R. (2018).
Embracing polygenicity: A review of methods and tools for psychiatric genetics
research. Psychological Medicine. Cambridge University Press. https://doi.org/10.1017/s0033291717002318'
chicago: 'Maier, R. M., P. M. Visscher, Matthew Richard Robinson, and N. R. Wray.
“Embracing Polygenicity: A Review of Methods and Tools for Psychiatric Genetics
Research.” Psychological Medicine. Cambridge University Press, 2018. https://doi.org/10.1017/s0033291717002318.'
ieee: 'R. M. Maier, P. M. Visscher, M. R. Robinson, and N. R. Wray, “Embracing polygenicity:
A review of methods and tools for psychiatric genetics research,” Psychological
Medicine, vol. 48, no. 7. Cambridge University Press, pp. 1055–1067, 2018.'
ista: 'Maier RM, Visscher PM, Robinson MR, Wray NR. 2018. Embracing polygenicity:
A review of methods and tools for psychiatric genetics research. Psychological
Medicine. 48(7), 1055–1067.'
mla: 'Maier, R. M., et al. “Embracing Polygenicity: A Review of Methods and Tools
for Psychiatric Genetics Research.” Psychological Medicine, vol. 48, no.
7, Cambridge University Press, 2018, pp. 1055–67, doi:10.1017/s0033291717002318.'
short: R.M. Maier, P.M. Visscher, M.R. Robinson, N.R. Wray, Psychological Medicine
48 (2018) 1055–1067.
date_created: 2020-04-30T10:44:35Z
date_published: 2018-05-01T00:00:00Z
date_updated: 2021-01-12T08:15:05Z
day: '01'
doi: 10.1017/s0033291717002318
extern: '1'
intvolume: ' 48'
issue: '7'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1017/s0033291717002318
month: '05'
oa: 1
oa_version: Published Version
page: 1055-1067
publication: Psychological Medicine
publication_identifier:
issn:
- 0033-2917
- 1469-8978
publication_status: published
publisher: Cambridge University Press
quality_controlled: '1'
status: public
title: 'Embracing polygenicity: A review of methods and tools for psychiatric genetics
research'
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 48
year: '2018'
...
---
_id: '7722'
abstract:
- lang: eng
text: We develop a Bayesian mixed linear model that simultaneously estimates single-nucleotide
polymorphism (SNP)-based heritability, polygenicity (proportion of SNPs with nonzero
effects), and the relationship between SNP effect size and minor allele frequency
for complex traits in conventionally unrelated individuals using genome-wide SNP
data. We apply the method to 28 complex traits in the UK Biobank data (N = 126,752)
and show that on average, 6% of SNPs have nonzero effects, which in total explain
22% of phenotypic variance. We detect significant (P < 0.05/28) signatures of
natural selection in the genetic architecture of 23 traits, including reproductive,
cardiovascular, and anthropometric traits, as well as educational attainment.
The significant estimates of the relationship between effect size and minor allele
frequency in complex traits are consistent with a model of negative (or purifying)
selection, as confirmed by forward simulation. We conclude that negative selection
acts pervasively on the genetic variants associated with human complex traits.
article_processing_charge: No
article_type: original
author:
- first_name: Jian
full_name: Zeng, Jian
last_name: Zeng
- first_name: Ronald
full_name: de Vlaming, Ronald
last_name: de Vlaming
- first_name: Yang
full_name: Wu, Yang
last_name: Wu
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Luke R.
full_name: Lloyd-Jones, Luke R.
last_name: Lloyd-Jones
- first_name: Loic
full_name: Yengo, Loic
last_name: Yengo
- first_name: Chloe X.
full_name: Yap, Chloe X.
last_name: Yap
- first_name: Angli
full_name: Xue, Angli
last_name: Xue
- first_name: Julia
full_name: Sidorenko, Julia
last_name: Sidorenko
- first_name: Allan F.
full_name: McRae, Allan F.
last_name: McRae
- first_name: Joseph E.
full_name: Powell, Joseph E.
last_name: Powell
- first_name: Grant W.
full_name: Montgomery, Grant W.
last_name: Montgomery
- first_name: Andres
full_name: Metspalu, Andres
last_name: Metspalu
- first_name: Tonu
full_name: Esko, Tonu
last_name: Esko
- first_name: Greg
full_name: Gibson, Greg
last_name: Gibson
- first_name: Naomi R.
full_name: Wray, Naomi R.
last_name: Wray
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
citation:
ama: Zeng J, de Vlaming R, Wu Y, et al. Signatures of negative selection in the
genetic architecture of human complex traits. Nature Genetics. 2018;50(5):746-753.
doi:10.1038/s41588-018-0101-4
apa: Zeng, J., de Vlaming, R., Wu, Y., Robinson, M. R., Lloyd-Jones, L. R., Yengo,
L., … Yang, J. (2018). Signatures of negative selection in the genetic architecture
of human complex traits. Nature Genetics. Springer Nature. https://doi.org/10.1038/s41588-018-0101-4
chicago: Zeng, Jian, Ronald de Vlaming, Yang Wu, Matthew Richard Robinson, Luke
R. Lloyd-Jones, Loic Yengo, Chloe X. Yap, et al. “Signatures of Negative Selection
in the Genetic Architecture of Human Complex Traits.” Nature Genetics.
Springer Nature, 2018. https://doi.org/10.1038/s41588-018-0101-4.
ieee: J. Zeng et al., “Signatures of negative selection in the genetic architecture
of human complex traits,” Nature Genetics, vol. 50, no. 5. Springer Nature,
pp. 746–753, 2018.
ista: Zeng J, de Vlaming R, Wu Y, Robinson MR, Lloyd-Jones LR, Yengo L, Yap CX,
Xue A, Sidorenko J, McRae AF, Powell JE, Montgomery GW, Metspalu A, Esko T, Gibson
G, Wray NR, Visscher PM, Yang J. 2018. Signatures of negative selection in the
genetic architecture of human complex traits. Nature Genetics. 50(5), 746–753.
mla: Zeng, Jian, et al. “Signatures of Negative Selection in the Genetic Architecture
of Human Complex Traits.” Nature Genetics, vol. 50, no. 5, Springer Nature,
2018, pp. 746–53, doi:10.1038/s41588-018-0101-4.
short: J. Zeng, R. de Vlaming, Y. Wu, M.R. Robinson, L.R. Lloyd-Jones, L. Yengo,
C.X. Yap, A. Xue, J. Sidorenko, A.F. McRae, J.E. Powell, G.W. Montgomery, A. Metspalu,
T. Esko, G. Gibson, N.R. Wray, P.M. Visscher, J. Yang, Nature Genetics 50 (2018)
746–753.
date_created: 2020-04-30T10:44:57Z
date_published: 2018-04-16T00:00:00Z
date_updated: 2021-01-12T08:15:06Z
day: '16'
doi: 10.1038/s41588-018-0101-4
extern: '1'
intvolume: ' 50'
issue: '5'
language:
- iso: eng
month: '04'
oa_version: None
page: 746-753
publication: Nature Genetics
publication_identifier:
issn:
- 1061-4036
- 1546-1718
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Signatures of negative selection in the genetic architecture of human complex
traits
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 50
year: '2018'
...
---
_id: '7723'
abstract:
- lang: eng
text: Genome-wide association studies (GWAS) have identified thousands of loci that
are robustly associated with complex diseases. The use of linear mixed model (LMM)
methodology for GWAS is becoming more prevalent due to its ability to control
for population structure and cryptic relatedness and to increase power. The odds
ratio (OR) is a common measure of the association of a disease with an exposure
(e.g., a genetic variant) and is readably available from logistic regression.
However, when the LMM is applied to all-or-none traits it provides estimates of
genetic effects on the observed 0–1 scale, a different scale to that in logistic
regression. This limits the comparability of results across studies, for example
in a meta-analysis, and makes the interpretation of the magnitude of an effect
from an LMM GWAS difficult. In this study, we derived transformations from the
genetic effects estimated under the LMM to the OR that only rely on summary statistics.
To test the proposed transformations, we used real genotypes from two large, publicly
available data sets to simulate all-or-none phenotypes for a set of scenarios
that differ in underlying model, disease prevalence, and heritability. Furthermore,
we applied these transformations to GWAS summary statistics for type 2 diabetes
generated from 108,042 individuals in the UK Biobank. In both simulation and real-data
application, we observed very high concordance between the transformed OR from
the LMM and either the simulated truth or estimates from logistic regression.
The transformations derived and validated in this study improve the comparability
of results from prospective and already performed LMM GWAS on complex diseases
by providing a reliable transformation to a common comparative scale for the genetic
effects.
article_processing_charge: No
article_type: original
author:
- first_name: Luke R.
full_name: Lloyd-Jones, Luke R.
last_name: Lloyd-Jones
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Jian
full_name: Yang, Jian
last_name: Yang
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
citation:
ama: Lloyd-Jones LR, Robinson MR, Yang J, Visscher PM. Transformation of summary
statistics from linear mixed model association on all-or-none traits to odds ratio.
Genetics. 2018;208(4):1397-1408. doi:10.1534/genetics.117.300360
apa: Lloyd-Jones, L. R., Robinson, M. R., Yang, J., & Visscher, P. M. (2018).
Transformation of summary statistics from linear mixed model association on all-or-none
traits to odds ratio. Genetics. Genetics Society of America. https://doi.org/10.1534/genetics.117.300360
chicago: Lloyd-Jones, Luke R., Matthew Richard Robinson, Jian Yang, and Peter M.
Visscher. “Transformation of Summary Statistics from Linear Mixed Model Association
on All-or-None Traits to Odds Ratio.” Genetics. Genetics Society of America,
2018. https://doi.org/10.1534/genetics.117.300360.
ieee: L. R. Lloyd-Jones, M. R. Robinson, J. Yang, and P. M. Visscher, “Transformation
of summary statistics from linear mixed model association on all-or-none traits
to odds ratio,” Genetics, vol. 208, no. 4. Genetics Society of America,
pp. 1397–1408, 2018.
ista: Lloyd-Jones LR, Robinson MR, Yang J, Visscher PM. 2018. Transformation of
summary statistics from linear mixed model association on all-or-none traits to
odds ratio. Genetics. 208(4), 1397–1408.
mla: Lloyd-Jones, Luke R., et al. “Transformation of Summary Statistics from Linear
Mixed Model Association on All-or-None Traits to Odds Ratio.” Genetics,
vol. 208, no. 4, Genetics Society of America, 2018, pp. 1397–408, doi:10.1534/genetics.117.300360.
short: L.R. Lloyd-Jones, M.R. Robinson, J. Yang, P.M. Visscher, Genetics 208 (2018)
1397–1408.
date_created: 2020-04-30T10:45:19Z
date_published: 2018-04-01T00:00:00Z
date_updated: 2021-01-12T08:15:06Z
day: '01'
doi: 10.1534/genetics.117.300360
extern: '1'
intvolume: ' 208'
issue: '4'
language:
- iso: eng
month: '04'
oa_version: None
page: 1397-1408
publication: Genetics
publication_identifier:
issn:
- 0016-6731
- 1943-2631
publication_status: published
publisher: Genetics Society of America
quality_controlled: '1'
status: public
title: Transformation of summary statistics from linear mixed model association on
all-or-none traits to odds ratio
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 208
year: '2018'
...
---
_id: '7724'
abstract:
- lang: eng
text: Modern molecular genetic datasets, primarily collected to study the biology
of human health and disease, can be used to directly measure the action of natural
selection and reveal important features of contemporary human evolution. Here
we leverage the UK Biobank data to test for the presence of linear and nonlinear
natural selection in a contemporary population of the United Kingdom. We obtain
phenotypic and genetic evidence consistent with the action of linear/directional
selection. Phenotypic evidence suggests that stabilizing selection, which acts
to reduce variance in the population without necessarily modifying the population
mean, is widespread and relatively weak in comparison with estimates from other
species.
article_processing_charge: No
article_type: original
author:
- first_name: Jaleal S.
full_name: Sanjak, Jaleal S.
last_name: Sanjak
- first_name: Julia
full_name: Sidorenko, Julia
last_name: Sidorenko
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Kevin R.
full_name: Thornton, Kevin R.
last_name: Thornton
- first_name: Peter M.
full_name: Visscher, Peter M.
last_name: Visscher
citation:
ama: Sanjak JS, Sidorenko J, Robinson MR, Thornton KR, Visscher PM. Evidence of
directional and stabilizing selection in contemporary humans. Proceedings of
the National Academy of Sciences. 2018;115(1):151-156. doi:10.1073/pnas.1707227114
apa: Sanjak, J. S., Sidorenko, J., Robinson, M. R., Thornton, K. R., & Visscher,
P. M. (2018). Evidence of directional and stabilizing selection in contemporary
humans. Proceedings of the National Academy of Sciences. Proceedings of
the National Academy of Sciences. https://doi.org/10.1073/pnas.1707227114
chicago: Sanjak, Jaleal S., Julia Sidorenko, Matthew Richard Robinson, Kevin R.
Thornton, and Peter M. Visscher. “Evidence of Directional and Stabilizing Selection
in Contemporary Humans.” Proceedings of the National Academy of Sciences.
Proceedings of the National Academy of Sciences, 2018. https://doi.org/10.1073/pnas.1707227114.
ieee: J. S. Sanjak, J. Sidorenko, M. R. Robinson, K. R. Thornton, and P. M. Visscher,
“Evidence of directional and stabilizing selection in contemporary humans,” Proceedings
of the National Academy of Sciences, vol. 115, no. 1. Proceedings of the National
Academy of Sciences, pp. 151–156, 2018.
ista: Sanjak JS, Sidorenko J, Robinson MR, Thornton KR, Visscher PM. 2018. Evidence
of directional and stabilizing selection in contemporary humans. Proceedings of
the National Academy of Sciences. 115(1), 151–156.
mla: Sanjak, Jaleal S., et al. “Evidence of Directional and Stabilizing Selection
in Contemporary Humans.” Proceedings of the National Academy of Sciences,
vol. 115, no. 1, Proceedings of the National Academy of Sciences, 2018, pp. 151–56,
doi:10.1073/pnas.1707227114.
short: J.S. Sanjak, J. Sidorenko, M.R. Robinson, K.R. Thornton, P.M. Visscher, Proceedings
of the National Academy of Sciences 115 (2018) 151–156.
date_created: 2020-04-30T10:45:43Z
date_published: 2018-01-02T00:00:00Z
date_updated: 2021-01-12T08:15:07Z
day: '02'
doi: 10.1073/pnas.1707227114
extern: '1'
intvolume: ' 115'
issue: '1'
language:
- iso: eng
month: '01'
oa_version: None
page: 151-156
publication: Proceedings of the National Academy of Sciences
publication_identifier:
issn:
- 0027-8424
- 1091-6490
publication_status: published
publisher: Proceedings of the National Academy of Sciences
quality_controlled: '1'
related_material:
link:
- relation: erratum
url: https://doi.org/10.1073/pnas.1806837115
status: public
title: Evidence of directional and stabilizing selection in contemporary humans
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 115
year: '2018'
...
---
_id: '7754'
abstract:
- lang: eng
text: Creating a selective gel that filters particles based on their interactions
is a major goal of nanotechnology, with far-reaching implications from drug delivery
to controlling assembly pathways. However, this is particularly difficult when
the particles are larger than the gel’s characteristic mesh size because such
particles cannot passively pass through the gel. Thus, filtering requires the
interacting particles to transiently reorganize the gel’s internal structure.
While significant advances, e.g., in DNA engineering, have enabled the design
of nano-materials with programmable interactions, it is not clear what physical
principles such a designer gel could exploit to achieve selective permeability.
We present an equilibrium mechanism where crosslink binding dynamics are affected
by interacting particles such that particle diffusion is enhanced. In addition
to revealing specific design rules for manufacturing selective gels, our results
have the potential to explain the origin of selective permeability in certain
biological materials, including the nuclear pore complex.
article_number: '4348'
article_processing_charge: No
article_type: original
author:
- first_name: Carl Peter
full_name: Goodrich, Carl Peter
id: EB352CD2-F68A-11E9-89C5-A432E6697425
last_name: Goodrich
orcid: 0000-0002-1307-5074
- first_name: Michael P.
full_name: Brenner, Michael P.
last_name: Brenner
- first_name: Katharina
full_name: Ribbeck, Katharina
last_name: Ribbeck
citation:
ama: Goodrich CP, Brenner MP, Ribbeck K. Enhanced diffusion by binding to the crosslinks
of a polymer gel. Nature Communications. 2018;9. doi:10.1038/s41467-018-06851-5
apa: Goodrich, C. P., Brenner, M. P., & Ribbeck, K. (2018). Enhanced diffusion
by binding to the crosslinks of a polymer gel. Nature Communications. Springer
Nature. https://doi.org/10.1038/s41467-018-06851-5
chicago: Goodrich, Carl Peter, Michael P. Brenner, and Katharina Ribbeck. “Enhanced
Diffusion by Binding to the Crosslinks of a Polymer Gel.” Nature Communications.
Springer Nature, 2018. https://doi.org/10.1038/s41467-018-06851-5.
ieee: C. P. Goodrich, M. P. Brenner, and K. Ribbeck, “Enhanced diffusion by binding
to the crosslinks of a polymer gel,” Nature Communications, vol. 9. Springer
Nature, 2018.
ista: Goodrich CP, Brenner MP, Ribbeck K. 2018. Enhanced diffusion by binding to
the crosslinks of a polymer gel. Nature Communications. 9, 4348.
mla: Goodrich, Carl Peter, et al. “Enhanced Diffusion by Binding to the Crosslinks
of a Polymer Gel.” Nature Communications, vol. 9, 4348, Springer Nature,
2018, doi:10.1038/s41467-018-06851-5.
short: C.P. Goodrich, M.P. Brenner, K. Ribbeck, Nature Communications 9 (2018).
date_created: 2020-04-30T11:38:01Z
date_published: 2018-10-19T00:00:00Z
date_updated: 2021-01-12T08:15:18Z
day: '19'
doi: 10.1038/s41467-018-06851-5
extern: '1'
intvolume: ' 9'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1038/s41467-018-06851-5
month: '10'
oa: 1
oa_version: Published Version
publication: Nature Communications
publication_identifier:
issn:
- 2041-1723
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
status: public
title: Enhanced diffusion by binding to the crosslinks of a polymer gel
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2018'
...
---
_id: '7783'
abstract:
- lang: eng
text: The Drosophila Genetic Reference Panel (DGRP) serves as a valuable resource
to better understand the genetic landscapes underlying quantitative traits. However,
such DGRP studies have so far only focused on nuclear genetic variants. To address
this, we sequenced the mitochondrial genomes of >170 DGRP lines, identifying 229
variants including 21 indels and 7 frameshifts. We used our mitochondrial variation
data to identify 12 genetically distinct mitochondrial haplotypes, thus revealing
important population structure at the mitochondrial level. We further examined
whether this population structure was reflected on the nuclear genome by screening
for the presence of potential mito-nuclear genetic incompatibilities in the form
of significant genotype ratio distortions (GRDs) between mitochondrial and nuclear
variants. In total, we detected a remarkable 1,845 mito-nuclear GRDs, with the
highest enrichment observed in a 40 kb region around the gene Sex-lethal (Sxl).
Intriguingly, downstream phenotypic analyses did not uncover major fitness effects
associated with these GRDs, suggesting that a large number of mito-nuclear GRDs
may reflect population structure at the mitochondrial level rather than actual
genomic incompatibilities. This is further supported by the GRD landscape showing
particular large genomic regions associated with a single mitochondrial haplotype.
Next, we explored the functional relevance of the detected mitochondrial haplotypes
through an association analysis on a set of 259 assembled, non-correlating DGRP
phenotypes. We found multiple significant associations with stress- and metabolism-related
phenotypes, including food intake in males. We validated the latter observation
by reciprocal swapping of mitochondrial genomes from high food intake DGRP lines
to low food intake ones. In conclusion, our study uncovered important mitochondrial
population structure and haplotype-specific metabolic variation in the DGRP, thus
demonstrating the significance of incorporating mitochondrial haplotypes in geno-phenotype
relationship studies.
article_processing_charge: No
author:
- first_name: Roel P.J.
full_name: Bevers, Roel P.J.
last_name: Bevers
- first_name: Maria
full_name: Litovchenko, Maria
last_name: Litovchenko
- first_name: Adamandia
full_name: Kapopoulou, Adamandia
last_name: Kapopoulou
- first_name: Virginie S.
full_name: Braman, Virginie S.
last_name: Braman
- first_name: Matthew Richard
full_name: Robinson, Matthew Richard
id: E5D42276-F5DA-11E9-8E24-6303E6697425
last_name: Robinson
orcid: 0000-0001-8982-8813
- first_name: Johan
full_name: Auwerx, Johan
last_name: Auwerx
- first_name: Brian
full_name: Hollis, Brian
last_name: Hollis
- first_name: Bart
full_name: Deplancke, Bart
last_name: Deplancke
citation:
ama: Bevers RPJ, Litovchenko M, Kapopoulou A, et al. Extensive mitochondrial population
structure and haplotype-specific phenotypic variation in the Drosophila Genetic
Reference Panel. bioRxiv. 2018.
apa: Bevers, R. P. J., Litovchenko, M., Kapopoulou, A., Braman, V. S., Robinson,
M. R., Auwerx, J., … Deplancke, B. (2018). Extensive mitochondrial population
structure and haplotype-specific phenotypic variation in the Drosophila Genetic
Reference Panel. bioRxiv. Cold Spring Harbor Laboratory.
chicago: Bevers, Roel P.J., Maria Litovchenko, Adamandia Kapopoulou, Virginie S.
Braman, Matthew Richard Robinson, Johan Auwerx, Brian Hollis, and Bart Deplancke.
“Extensive Mitochondrial Population Structure and Haplotype-Specific Phenotypic
Variation in the Drosophila Genetic Reference Panel.” BioRxiv. Cold Spring
Harbor Laboratory, 2018.
ieee: R. P. J. Bevers et al., “Extensive mitochondrial population structure
and haplotype-specific phenotypic variation in the Drosophila Genetic Reference
Panel,” bioRxiv. Cold Spring Harbor Laboratory, 2018.
ista: Bevers RPJ, Litovchenko M, Kapopoulou A, Braman VS, Robinson MR, Auwerx J,
Hollis B, Deplancke B. 2018. Extensive mitochondrial population structure and
haplotype-specific phenotypic variation in the Drosophila Genetic Reference Panel.
bioRxiv, .
mla: Bevers, Roel P. J., et al. “Extensive Mitochondrial Population Structure and
Haplotype-Specific Phenotypic Variation in the Drosophila Genetic Reference Panel.”
BioRxiv, Cold Spring Harbor Laboratory, 2018.
short: R.P.J. Bevers, M. Litovchenko, A. Kapopoulou, V.S. Braman, M.R. Robinson,
J. Auwerx, B. Hollis, B. Deplancke, BioRxiv (2018).
date_created: 2020-04-30T13:09:37Z
date_published: 2018-11-09T00:00:00Z
date_updated: 2021-01-12T08:15:30Z
day: '09'
extern: '1'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: 'https://doi.org/10.1101/466771 '
month: '11'
oa: 1
oa_version: Preprint
page: '49'
publication: bioRxiv
publication_status: published
publisher: Cold Spring Harbor Laboratory
status: public
title: Extensive mitochondrial population structure and haplotype-specific phenotypic
variation in the Drosophila Genetic Reference Panel
type: preprint
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
year: '2018'
...
---
_id: '78'
abstract:
- lang: eng
text: We provide a procedure for detecting the sub-segments of an incrementally
observed Boolean signal ω that match a given temporal pattern ϕ. As a pattern
specification language, we use timed regular expressions, a formalism well-suited
for expressing properties of concurrent asynchronous behaviors embedded in metric
time. We construct a timed automaton accepting the timed language denoted by ϕ
and modify it slightly for the purpose of matching. We then apply zone-based reachability
computation to this automaton while it reads ω, and retrieve all the matching
segments from the results. Since the procedure is automaton based, it can be applied
to patterns specified by other formalisms such as timed temporal logics reducible
to timed automata or directly encoded as timed automata. The procedure has been
implemented and its performance on synthetic examples is demonstrated.
alternative_title:
- LNCS
article_processing_charge: No
author:
- first_name: Alexey
full_name: Bakhirkin, Alexey
last_name: Bakhirkin
- first_name: Thomas
full_name: Ferrere, Thomas
id: 40960E6E-F248-11E8-B48F-1D18A9856A87
last_name: Ferrere
orcid: 0000-0001-5199-3143
- first_name: Dejan
full_name: Nickovic, Dejan
last_name: Nickovic
- first_name: Oded
full_name: Maler, Oded
last_name: Maler
- first_name: Eugene
full_name: Asarin, Eugene
last_name: Asarin
citation:
ama: 'Bakhirkin A, Ferrere T, Nickovic D, Maler O, Asarin E. Online timed pattern
matching using automata. In: Vol 11022. Springer; 2018:215-232. doi:10.1007/978-3-030-00151-3_13'
apa: 'Bakhirkin, A., Ferrere, T., Nickovic, D., Maler, O., & Asarin, E. (2018).
Online timed pattern matching using automata (Vol. 11022, pp. 215–232). Presented
at the FORMATS: Formal Modeling and Analysis of Timed Systems, Bejing, China:
Springer. https://doi.org/10.1007/978-3-030-00151-3_13'
chicago: Bakhirkin, Alexey, Thomas Ferrere, Dejan Nickovic, Oded Maler, and Eugene
Asarin. “Online Timed Pattern Matching Using Automata,” 11022:215–32. Springer,
2018. https://doi.org/10.1007/978-3-030-00151-3_13.
ieee: 'A. Bakhirkin, T. Ferrere, D. Nickovic, O. Maler, and E. Asarin, “Online timed
pattern matching using automata,” presented at the FORMATS: Formal Modeling and
Analysis of Timed Systems, Bejing, China, 2018, vol. 11022, pp. 215–232.'
ista: 'Bakhirkin A, Ferrere T, Nickovic D, Maler O, Asarin E. 2018. Online timed
pattern matching using automata. FORMATS: Formal Modeling and Analysis of Timed
Systems, LNCS, vol. 11022, 215–232.'
mla: Bakhirkin, Alexey, et al. Online Timed Pattern Matching Using Automata.
Vol. 11022, Springer, 2018, pp. 215–32, doi:10.1007/978-3-030-00151-3_13.
short: A. Bakhirkin, T. Ferrere, D. Nickovic, O. Maler, E. Asarin, in:, Springer,
2018, pp. 215–232.
conference:
end_date: 2018-09-06
location: Bejing, China
name: 'FORMATS: Formal Modeling and Analysis of Timed Systems'
start_date: 2018-09-04
date_created: 2018-12-11T11:44:31Z
date_published: 2018-08-26T00:00:00Z
date_updated: 2023-09-13T09:35:46Z
day: '26'
ddc:
- '000'
department:
- _id: ToHe
doi: 10.1007/978-3-030-00151-3_13
external_id:
isi:
- '000884993200013'
file:
- access_level: open_access
checksum: 436b7574934324cfa7d1d3986fddc65b
content_type: application/pdf
creator: dernst
date_created: 2020-05-14T11:34:34Z
date_updated: 2020-07-14T12:48:03Z
file_id: '7831'
file_name: 2018_LNCS_Bakhirkin.pdf
file_size: 374851
relation: main_file
file_date_updated: 2020-07-14T12:48:03Z
has_accepted_license: '1'
intvolume: ' 11022'
isi: 1
language:
- iso: eng
month: '08'
oa: 1
oa_version: Submitted Version
page: 215 - 232
project:
- _id: 25832EC2-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: S 11407_N23
name: Rigorous Systems Engineering
- _id: 25F42A32-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: Z211
name: The Wittgenstein Prize
publication_identifier:
isbn:
- 978-3-030-00150-6
publication_status: published
publisher: Springer
publist_id: '7976'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Online timed pattern matching using automata
type: conference
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
volume: 11022
year: '2018'
...
---
_id: '7812'
abstract:
- lang: eng
text: Deep neural networks (DNNs) continue to make significant advances, solving
tasks from image classification to translation or reinforcement learning. One
aspect of the field receiving considerable attention is efficiently executing
deep models in resource-constrained environments, such as mobile or embedded devices.
This paper focuses on this problem, and proposes two new compression methods,
which jointly leverage weight quantization and distillation of larger teacher
networks into smaller student networks. The first method we propose is called
quantized distillation and leverages distillation during the training process,
by incorporating distillation loss, expressed with respect to the teacher, into
the training of a student network whose weights are quantized to a limited set
of levels. The second method, differentiable quantization, optimizes the location
of quantization points through stochastic gradient descent, to better fit the
behavior of the teacher model. We validate both methods through experiments on
convolutional and recurrent architectures. We show that quantized shallow students
can reach similar accuracy levels to full-precision teacher models, while providing
order of magnitude compression, and inference speedup that is linear in the depth
reduction. In sum, our results enable DNNs for resource-constrained environments
to leverage architecture and accuracy advances developed on more powerful devices.
article_processing_charge: No
arxiv: 1
author:
- first_name: Antonio
full_name: Polino, Antonio
last_name: Polino
- first_name: Razvan
full_name: Pascanu, Razvan
last_name: Pascanu
- first_name: Dan-Adrian
full_name: Alistarh, Dan-Adrian
id: 4A899BFC-F248-11E8-B48F-1D18A9856A87
last_name: Alistarh
orcid: 0000-0003-3650-940X
citation:
ama: 'Polino A, Pascanu R, Alistarh D-A. Model compression via distillation and
quantization. In: 6th International Conference on Learning Representations.
; 2018.'
apa: Polino, A., Pascanu, R., & Alistarh, D.-A. (2018). Model compression via
distillation and quantization. In 6th International Conference on Learning
Representations. Vancouver, Canada.
chicago: Polino, Antonio, Razvan Pascanu, and Dan-Adrian Alistarh. “Model Compression
via Distillation and Quantization.” In 6th International Conference on Learning
Representations, 2018.
ieee: A. Polino, R. Pascanu, and D.-A. Alistarh, “Model compression via distillation
and quantization,” in 6th International Conference on Learning Representations,
Vancouver, Canada, 2018.
ista: 'Polino A, Pascanu R, Alistarh D-A. 2018. Model compression via distillation
and quantization. 6th International Conference on Learning Representations. ICLR:
International Conference on Learning Representations.'
mla: Polino, Antonio, et al. “Model Compression via Distillation and Quantization.”
6th International Conference on Learning Representations, 2018.
short: A. Polino, R. Pascanu, D.-A. Alistarh, in:, 6th International Conference
on Learning Representations, 2018.
conference:
end_date: 2018-05-03
location: Vancouver, Canada
name: 'ICLR: International Conference on Learning Representations'
start_date: 2018-04-30
date_created: 2020-05-10T22:00:51Z
date_published: 2018-05-01T00:00:00Z
date_updated: 2023-02-23T13:18:41Z
day: '01'
ddc:
- '000'
department:
- _id: DaAl
external_id:
arxiv:
- '1802.05668'
file:
- access_level: open_access
checksum: a4336c167978e81891970e4e4517a8c3
content_type: application/pdf
creator: dernst
date_created: 2020-05-26T13:02:00Z
date_updated: 2020-07-14T12:48:03Z
file_id: '7894'
file_name: 2018_ICLR_Polino.pdf
file_size: 308339
relation: main_file
file_date_updated: 2020-07-14T12:48:03Z
has_accepted_license: '1'
language:
- iso: eng
month: '05'
oa: 1
oa_version: Published Version
publication: 6th International Conference on Learning Representations
publication_status: published
quality_controlled: '1'
scopus_import: 1
status: public
title: Model compression via distillation and quantization
type: conference
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
year: '2018'
...
---
_id: '79'
abstract:
- lang: eng
text: 'Markov Decision Processes (MDPs) are a popular class of models suitable for
solving control decision problems in probabilistic reactive systems. We consider
parametric MDPs (pMDPs) that include parameters in some of the transition probabilities
to account for stochastic uncertainties of the environment such as noise or input
disturbances. We study pMDPs with reachability objectives where the parameter
values are unknown and impossible to measure directly during execution, but there
is a probability distribution known over the parameter values. We study for the
first time computing parameter-independent strategies that are expectation optimal,
i.e., optimize the expected reachability probability under the probability distribution
over the parameters. We present an encoding of our problem to partially observable
MDPs (POMDPs), i.e., a reduction of our problem to computing optimal strategies
in POMDPs. We evaluate our method experimentally on several benchmarks: a motivating
(repeated) learner model; a series of benchmarks of varying configurations of
a robot moving on a grid; and a consensus protocol.'
alternative_title:
- LNCS
article_processing_charge: No
arxiv: 1
author:
- first_name: Sebastian
full_name: Arming, Sebastian
last_name: Arming
- first_name: Ezio
full_name: Bartocci, Ezio
last_name: Bartocci
- first_name: Krishnendu
full_name: Chatterjee, Krishnendu
id: 2E5DCA20-F248-11E8-B48F-1D18A9856A87
last_name: Chatterjee
orcid: 0000-0002-4561-241X
- first_name: Joost P
full_name: Katoen, Joost P
id: 4524F760-F248-11E8-B48F-1D18A9856A87
last_name: Katoen
- first_name: Ana
full_name: Sokolova, Ana
last_name: Sokolova
citation:
ama: 'Arming S, Bartocci E, Chatterjee K, Katoen JP, Sokolova A. Parameter-independent
strategies for pMDPs via POMDPs. In: Vol 11024. Springer; 2018:53-70. doi:10.1007/978-3-319-99154-2_4'
apa: 'Arming, S., Bartocci, E., Chatterjee, K., Katoen, J. P., & Sokolova, A.
(2018). Parameter-independent strategies for pMDPs via POMDPs (Vol. 11024, pp.
53–70). Presented at the QEST: Quantitative Evaluation of Systems, Beijing, China:
Springer. https://doi.org/10.1007/978-3-319-99154-2_4'
chicago: Arming, Sebastian, Ezio Bartocci, Krishnendu Chatterjee, Joost P Katoen,
and Ana Sokolova. “Parameter-Independent Strategies for PMDPs via POMDPs,” 11024:53–70.
Springer, 2018. https://doi.org/10.1007/978-3-319-99154-2_4.
ieee: 'S. Arming, E. Bartocci, K. Chatterjee, J. P. Katoen, and A. Sokolova, “Parameter-independent
strategies for pMDPs via POMDPs,” presented at the QEST: Quantitative Evaluation
of Systems, Beijing, China, 2018, vol. 11024, pp. 53–70.'
ista: 'Arming S, Bartocci E, Chatterjee K, Katoen JP, Sokolova A. 2018. Parameter-independent
strategies for pMDPs via POMDPs. QEST: Quantitative Evaluation of Systems, LNCS,
vol. 11024, 53–70.'
mla: Arming, Sebastian, et al. Parameter-Independent Strategies for PMDPs via
POMDPs. Vol. 11024, Springer, 2018, pp. 53–70, doi:10.1007/978-3-319-99154-2_4.
short: S. Arming, E. Bartocci, K. Chatterjee, J.P. Katoen, A. Sokolova, in:, Springer,
2018, pp. 53–70.
conference:
end_date: 2018-09-07
location: Beijing, China
name: 'QEST: Quantitative Evaluation of Systems'
start_date: 2018-09-04
date_created: 2018-12-11T11:44:31Z
date_published: 2018-08-15T00:00:00Z
date_updated: 2023-09-13T09:38:28Z
day: '15'
department:
- _id: KrCh
- _id: ToHe
doi: 10.1007/978-3-319-99154-2_4
external_id:
arxiv:
- '1806.05126'
isi:
- '000548912200004'
intvolume: ' 11024'
isi: 1
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://arxiv.org/abs/1806.05126
month: '08'
oa: 1
oa_version: Preprint
page: 53-70
publication_status: published
publisher: Springer
publist_id: '7975'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Parameter-independent strategies for pMDPs via POMDPs
type: conference
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
volume: 11024
year: '2018'
...
---
_id: '7983'
abstract:
- lang: ger
text: 'Feste Alkalicarbonate sind universelle Bestandteile von Passivierungsschichten
an Materialien für Interkalationsbatterien, übliche Nebenprodukte in Metall‐O2‐Batterien,
und es wird angenommen, dass sie sich reversibel in Metall‐O2 /CO2‐Zellen bilden
und zersetzen. In all diesen Kathoden zersetzt sich Li2CO3 zu CO2, sobald es Spannungen
>3.8 V vs. Li/Li+ ausgesetzt wird. Beachtenswert ist, dass keine O2‐Entwicklung
detektiert wird, wie gemäß der Zersetzungsreaktion 2 Li2CO3 → 4 Li+ + 4 e− + 2 CO2
+ O2 zu erwarten wäre. Deswegen war der Verbleib eines der O‐Atome ungeklärt und
wurde nicht identifizierten parasitären Reaktionen zugerechnet. Hier zeigen wir,
dass hochreaktiver Singulett‐Sauerstoff (1O2) bei der Oxidation von Li2CO3 in
einem aprotischen Elektrolyten gebildet und daher nicht als O2 freigesetzt wird.
Diese Ergebnisse haben weitreichende Auswirkungen auf die langfristige Zyklisierbarkeit
von Batterien: sie untermauern die Wichtigkeit, 1O2 in Metall‐O2‐Batterien zu
verhindern, stellen die Möglichkeit einer reversiblen Metall‐O2 /CO2‐Batterie
basierend auf einem Carbonat‐Entladeprodukt in Frage und helfen, Grenzflächenreaktivität
von Übergangsmetallkathoden mit Li2CO3‐Resten zu erklären.'
article_processing_charge: No
article_type: original
author:
- first_name: Nika
full_name: Mahne, Nika
last_name: Mahne
- first_name: Sara E.
full_name: Renfrew, Sara E.
last_name: Renfrew
- first_name: Bryan D.
full_name: McCloskey, Bryan D.
last_name: McCloskey
- first_name: Stefan Alexander
full_name: Freunberger, Stefan Alexander
id: A8CA28E6-CE23-11E9-AD2D-EC27E6697425
last_name: Freunberger
orcid: 0000-0003-2902-5319
citation:
ama: Mahne N, Renfrew SE, McCloskey BD, Freunberger SA. Elektrochemische Oxidation
von Lithiumcarbonat generiert Singulett-Sauerstoff. Angewandte Chemie.
2018;130(19):5627-5631. doi:10.1002/ange.201802277
apa: Mahne, N., Renfrew, S. E., McCloskey, B. D., & Freunberger, S. A. (2018).
Elektrochemische Oxidation von Lithiumcarbonat generiert Singulett-Sauerstoff.
Angewandte Chemie. Wiley. https://doi.org/10.1002/ange.201802277
chicago: Mahne, Nika, Sara E. Renfrew, Bryan D. McCloskey, and Stefan Alexander
Freunberger. “Elektrochemische Oxidation von Lithiumcarbonat Generiert Singulett-Sauerstoff.”
Angewandte Chemie. Wiley, 2018. https://doi.org/10.1002/ange.201802277.
ieee: N. Mahne, S. E. Renfrew, B. D. McCloskey, and S. A. Freunberger, “Elektrochemische
Oxidation von Lithiumcarbonat generiert Singulett-Sauerstoff,” Angewandte Chemie,
vol. 130, no. 19. Wiley, pp. 5627–5631, 2018.
ista: Mahne N, Renfrew SE, McCloskey BD, Freunberger SA. 2018. Elektrochemische
Oxidation von Lithiumcarbonat generiert Singulett-Sauerstoff. Angewandte Chemie.
130(19), 5627–5631.
mla: Mahne, Nika, et al. “Elektrochemische Oxidation von Lithiumcarbonat Generiert
Singulett-Sauerstoff.” Angewandte Chemie, vol. 130, no. 19, Wiley, 2018,
pp. 5627–31, doi:10.1002/ange.201802277.
short: N. Mahne, S.E. Renfrew, B.D. McCloskey, S.A. Freunberger, Angewandte Chemie
130 (2018) 5627–5631.
date_created: 2020-06-19T08:33:24Z
date_published: 2018-05-04T00:00:00Z
date_updated: 2021-01-12T08:16:21Z
day: '04'
ddc:
- '540'
doi: 10.1002/ange.201802277
extern: '1'
file:
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checksum: 81506e0f7079e1e3591f3cd9f626bf67
content_type: application/pdf
creator: dernst
date_created: 2020-06-19T11:58:06Z
date_updated: 2020-07-14T12:48:06Z
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file_name: 2018_AngChemieDT_Mahne.pdf
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language:
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month: '05'
oa: 1
oa_version: Published Version
page: 5627-5631
publication: Angewandte Chemie
publication_identifier:
issn:
- 0044-8249
publication_status: published
publisher: Wiley
quality_controlled: '1'
status: public
title: Elektrochemische Oxidation von Lithiumcarbonat generiert Singulett-Sauerstoff
tmp:
image: /images/cc_by_nc_nd.png
legal_code_url: https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode
name: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
(CC BY-NC-ND 4.0)
short: CC BY-NC-ND (4.0)
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 130
year: '2018'
...
---
_id: '8015'
abstract:
- lang: eng
text: 'The neural code of cortical processing remains uncracked; however, it must
necessarily rely on faithful signal propagation between cortical areas. In this
issue of Neuron, Joglekar et al. (2018) show that strong inter-areal excitation
balanced by local inhibition can enable reliable signal propagation in data-constrained
network models of macaque cortex. '
article_processing_charge: No
article_type: original
author:
- first_name: Jake P.
full_name: Stroud, Jake P.
last_name: Stroud
- first_name: Tim P
full_name: Vogels, Tim P
id: CB6FF8D2-008F-11EA-8E08-2637E6697425
last_name: Vogels
orcid: 0000-0003-3295-6181
citation:
ama: 'Stroud JP, Vogels TP. Cortical signal propagation: Balance, amplify, transmit.
Neuron. 2018;98(1):8-9. doi:10.1016/j.neuron.2018.03.028'
apa: 'Stroud, J. P., & Vogels, T. P. (2018). Cortical signal propagation: Balance,
amplify, transmit. Neuron. Elsevier. https://doi.org/10.1016/j.neuron.2018.03.028'
chicago: 'Stroud, Jake P., and Tim P Vogels. “Cortical Signal Propagation: Balance,
Amplify, Transmit.” Neuron. Elsevier, 2018. https://doi.org/10.1016/j.neuron.2018.03.028.'
ieee: 'J. P. Stroud and T. P. Vogels, “Cortical signal propagation: Balance, amplify,
transmit,” Neuron, vol. 98, no. 1. Elsevier, pp. 8–9, 2018.'
ista: 'Stroud JP, Vogels TP. 2018. Cortical signal propagation: Balance, amplify,
transmit. Neuron. 98(1), 8–9.'
mla: 'Stroud, Jake P., and Tim P. Vogels. “Cortical Signal Propagation: Balance,
Amplify, Transmit.” Neuron, vol. 98, no. 1, Elsevier, 2018, pp. 8–9, doi:10.1016/j.neuron.2018.03.028.'
short: J.P. Stroud, T.P. Vogels, Neuron 98 (2018) 8–9.
date_created: 2020-06-25T12:53:39Z
date_published: 2018-04-04T00:00:00Z
date_updated: 2021-01-12T08:16:31Z
day: '04'
doi: 10.1016/j.neuron.2018.03.028
extern: '1'
external_id:
pmid:
- '29621492'
intvolume: ' 98'
issue: '1'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://doi.org/10.1016/j.neuron.2018.03.028
month: '04'
oa: 1
oa_version: Published Version
page: 8-9
pmid: 1
publication: Neuron
publication_identifier:
issn:
- 0896-6273
publication_status: published
publisher: Elsevier
quality_controlled: '1'
status: public
title: 'Cortical signal propagation: Balance, amplify, transmit'
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 98
year: '2018'
...
---
_id: '806'
abstract:
- lang: eng
text: Social insect colonies have evolved many collectively performed adaptations
that reduce the impact of infectious disease and that are expected to maximize
their fitness. This colony-level protection is termed social immunity, and it
enhances the health and survival of the colony. In this review, we address how
social immunity emerges from its mechanistic components to produce colony-level
disease avoidance, resistance, and tolerance. To understand the evolutionary causes
and consequences of social immunity, we highlight the need for studies that evaluate
the effects of social immunity on colony fitness. We discuss the role that host
life history and ecology have on predicted eco-evolutionary dynamics, which differ
among the social insect lineages. Throughout the review, we highlight current
gaps in our knowledge and promising avenues for future research, which we hope
will bring us closer to an integrated understanding of socio-eco-evo-immunology.
article_processing_charge: No
author:
- first_name: Sylvia
full_name: Cremer, Sylvia
id: 2F64EC8C-F248-11E8-B48F-1D18A9856A87
last_name: Cremer
orcid: 0000-0002-2193-3868
- first_name: Christopher
full_name: Pull, Christopher
id: 3C7F4840-F248-11E8-B48F-1D18A9856A87
last_name: Pull
orcid: 0000-0003-1122-3982
- first_name: Matthias
full_name: Fürst, Matthias
id: 393B1196-F248-11E8-B48F-1D18A9856A87
last_name: Fürst
orcid: 0000-0002-3712-925X
citation:
ama: 'Cremer S, Pull C, Fürst M. Social immunity: Emergence and evolution of colony-level
disease protection. Annual Review of Entomology. 2018;63:105-123. doi:10.1146/annurev-ento-020117-043110'
apa: 'Cremer, S., Pull, C., & Fürst, M. (2018). Social immunity: Emergence and
evolution of colony-level disease protection. Annual Review of Entomology.
Annual Reviews. https://doi.org/10.1146/annurev-ento-020117-043110'
chicago: 'Cremer, Sylvia, Christopher Pull, and Matthias Fürst. “Social Immunity:
Emergence and Evolution of Colony-Level Disease Protection.” Annual Review
of Entomology. Annual Reviews, 2018. https://doi.org/10.1146/annurev-ento-020117-043110.'
ieee: 'S. Cremer, C. Pull, and M. Fürst, “Social immunity: Emergence and evolution
of colony-level disease protection,” Annual Review of Entomology, vol.
63. Annual Reviews, pp. 105–123, 2018.'
ista: 'Cremer S, Pull C, Fürst M. 2018. Social immunity: Emergence and evolution
of colony-level disease protection. Annual Review of Entomology. 63, 105–123.'
mla: 'Cremer, Sylvia, et al. “Social Immunity: Emergence and Evolution of Colony-Level
Disease Protection.” Annual Review of Entomology, vol. 63, Annual Reviews,
2018, pp. 105–23, doi:10.1146/annurev-ento-020117-043110.'
short: S. Cremer, C. Pull, M. Fürst, Annual Review of Entomology 63 (2018) 105–123.
date_created: 2018-12-11T11:48:36Z
date_published: 2018-01-07T00:00:00Z
date_updated: 2023-09-19T09:29:45Z
day: '07'
department:
- _id: SyCr
doi: 10.1146/annurev-ento-020117-043110
external_id:
isi:
- '000424633700008'
intvolume: ' 63'
isi: 1
language:
- iso: eng
month: '01'
oa_version: None
page: 105 - 123
publication: Annual Review of Entomology
publication_identifier:
issn:
- 1545-4487
publication_status: published
publisher: Annual Reviews
publist_id: '6844'
quality_controlled: '1'
related_material:
record:
- id: '819'
relation: dissertation_contains
status: public
scopus_import: '1'
status: public
title: 'Social immunity: Emergence and evolution of colony-level disease protection'
type: journal_article
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
volume: 63
year: '2018'
...
---
_id: '8073'
abstract:
- lang: eng
text: Motor cortex (M1) exhibits a rich repertoire of neuronal activities to support
the generation of complex movements. Although recent neuronal-network models capture
many qualitative aspects of M1 dynamics, they can generate only a few distinct
movements. Additionally, it is unclear how M1 efficiently controls movements over
a wide range of shapes and speeds. We demonstrate that modulation of neuronal
input–output gains in recurrent neuronal-network models with a fixed architecture
can dramatically reorganize neuronal activity and thus downstream muscle outputs.
Consistent with the observation of diffuse neuromodulatory projections to M1,
a relatively small number of modulatory control units provide sufficient flexibility
to adjust high-dimensional network activity using a simple reward-based learning
rule. Furthermore, it is possible to assemble novel movements from previously
learned primitives, and one can separately change movement speed while preserving
movement shape. Our results provide a new perspective on the role of modulatory
systems in controlling recurrent cortical activity.
article_processing_charge: No
article_type: original
author:
- first_name: Jake P.
full_name: Stroud, Jake P.
last_name: Stroud
- first_name: Mason A.
full_name: Porter, Mason A.
last_name: Porter
- first_name: Guillaume
full_name: Hennequin, Guillaume
last_name: Hennequin
- first_name: Tim P
full_name: Vogels, Tim P
id: CB6FF8D2-008F-11EA-8E08-2637E6697425
last_name: Vogels
orcid: 0000-0003-3295-6181
citation:
ama: Stroud JP, Porter MA, Hennequin G, Vogels TP. Motor primitives in space and
time via targeted gain modulation in cortical networks. Nature Neuroscience.
2018;21(12):1774-1783. doi:10.1038/s41593-018-0276-0
apa: Stroud, J. P., Porter, M. A., Hennequin, G., & Vogels, T. P. (2018). Motor
primitives in space and time via targeted gain modulation in cortical networks.
Nature Neuroscience. Springer Nature. https://doi.org/10.1038/s41593-018-0276-0
chicago: Stroud, Jake P., Mason A. Porter, Guillaume Hennequin, and Tim P Vogels.
“Motor Primitives in Space and Time via Targeted Gain Modulation in Cortical Networks.”
Nature Neuroscience. Springer Nature, 2018. https://doi.org/10.1038/s41593-018-0276-0.
ieee: J. P. Stroud, M. A. Porter, G. Hennequin, and T. P. Vogels, “Motor primitives
in space and time via targeted gain modulation in cortical networks,” Nature
Neuroscience, vol. 21, no. 12. Springer Nature, pp. 1774–1783, 2018.
ista: Stroud JP, Porter MA, Hennequin G, Vogels TP. 2018. Motor primitives in space
and time via targeted gain modulation in cortical networks. Nature Neuroscience.
21(12), 1774–1783.
mla: Stroud, Jake P., et al. “Motor Primitives in Space and Time via Targeted Gain
Modulation in Cortical Networks.” Nature Neuroscience, vol. 21, no. 12,
Springer Nature, 2018, pp. 1774–83, doi:10.1038/s41593-018-0276-0.
short: J.P. Stroud, M.A. Porter, G. Hennequin, T.P. Vogels, Nature Neuroscience
21 (2018) 1774–1783.
date_created: 2020-06-30T13:18:02Z
date_published: 2018-12-01T00:00:00Z
date_updated: 2021-01-12T08:16:46Z
day: '01'
doi: 10.1038/s41593-018-0276-0
extern: '1'
external_id:
pmid:
- '30482949'
intvolume: ' 21'
issue: '12'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276991/
month: '12'
oa: 1
oa_version: Submitted Version
page: 1774-1783
pmid: 1
publication: Nature Neuroscience
publication_identifier:
issn:
- 1097-6256
- 1546-1726
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
related_material:
link:
- relation: erratum
url: https://doi.org/10.1038/s41593-018-0307-x
status: public
title: Motor primitives in space and time via targeted gain modulation in cortical
networks
type: journal_article
user_id: D865714E-FA4E-11E9-B85B-F5C5E5697425
volume: 21
year: '2018'
...