Nick Patterson

Ancient DNA reveals matrilineal organisation and recurrent unions between dominant matrilines in Iron Age Britain

Íñigo Olalde, Ian Armit, Lindsey Büster, Malcolm Lillie et autres

Abstract Kinship practices underpin all traditional societies, forming the basis for socially sanctioned reproductive unions, residence patterns and the inheritance of rights and property 1,2 . Although the relationship between biological relatedness and kinship is not always straightforward, ancient DNA studies are …

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Ancient DNA reveals pervasive directional selection across West Eurasia

Ali Akbari, Annabel Perry, Alison R. Barton, Mohammadreza Kariminejad et autres

Ancient DNA has transformed our understanding of population history1, but its potential to reveal as much about human evolutionary biology has not been realized because of limited sample sizes and the difficulty of distinguishing sustained rises in allele frequency increasing fitness—directional selection—from …

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Negative short-range genomic autocorrelation of causal effects on human complex traits

Armin Schoech, Omer Weissbrod, Luke J. O’Connor, Nick Patterson et autres

Abstract Most models of complex trait genetic architecture assume that signed causal effect sizes of each SNP (defined with respect to the minor allele) are uncorrelated with those of nearby SNPs, but it is currently unknown whether this is the case. We …

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Liability threshold modeling of case–control status and family history of disease increases association power

Margaux L.A. Hujoel, Steven Gazal, Po‐Ru Loh, Nick Patterson et autres

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Extreme Polygenicity of Complex Traits Is Explained by Negative Selection

Luke J. O’Connor, Armin Schoech, Farhad Hormozdiari, Steven Gazal et autres

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Polygenicity of complex traits is explained by negative selection

Luke J. O’Connor, Armin Schoech, Farhad Hormozdiari, Steven Gazal et autres

Complex traits and common disease are highly polygenic: thousands of common variants are causal, and their effect sizes are almost always small. Polygenicity could be explained by negative selection, which constrains common-variant effect sizes and may reshape their distribution across the genome. …

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Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

Yakir Reshef, Hilary K. Finucane, David R. Kelley, Alexander Gusev et autres

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Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

Yakir Reshef, Hilary K. Finucane, David R. Kelley, Alexander Gusev et autres

Abstract Biological interpretation of GWAS data frequently involves analyzing unsigned genomic annotations comprising SNPs involved in a biological process and assessing enrichment for disease signal. However, it is often possible to generate signed annotations quantifying whether each SNP allele promotes or hinders …

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Prospective functional classification of all possible missense variants in PPARG

Amit R. Majithia, Ben Tsuda, Maura Agostini, Keerthana Gnanapradeepan et autres

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Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Bjarni J. Vilhjálmsson, Jian Yang, Hilary K. Finucane, Alexander Gusev et autres

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An Atlas of Genetic Correlations across Human Diseases and Traits

Brendan Bulik‐Sullivan, Hilary K. Finucane, Verneri Anttila, Alexander Gusev et autres

Abstract Identifying genetic correlations between complex traits and diseases can provide useful etiological insights and help prioritize likely causal relationships. The major challenges preventing estimation of genetic correlation from genome-wide association study (GWAS) data with current methods are the lack of availability …

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Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

Amy L. Williams, Suzanne B.R. Jacobs, Claire Churchhouse, Noël P. Burtt et autres

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