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Dataset of MOSAIc analyses of GWASs supporting paper "Mosaic patterns of selection in genomic regions associated with diverse human traits"

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modified on 2022-10-11, 22:08

Natural selection shapes the genetic architecture of many human traits. However, the prevalence of different modes of selection on genomic regions associated with variation in traits remains poorly understood. To address this, we developed an efficient computational framework to calculate enrichment of different evolutionary measures among regions associated with complex traits. We applied the framework to summary statistics from >900 genome-wide association studies (GWASs) and 11 evolutionary measures of sequence constraint, population differentiation, and allele age while accounting for linkage disequilibrium, allele frequency, and other potential confounders. We demonstrate that this framework yields consistent results across GWASs with variable sample sizes, numbers of trait-associated SNPs, and analytical approaches. The resulting evolutionary atlas maps diverse signatures of selection on genomic regions associated with complex human traits on an unprecedented scale. This atlas of signatures of different modes of natural selection across the diversity of available GWASs will enable exploration of the relationship between the genetic architecture and selection in the human genome. 

Each file is labeled with the associated GWASs PMID. Within each folder there are trait-level enrichments and region-level enrichments. 

Input files: gwas_name.format.tsv

Region-level enrichment files: gwas_name.format.evomeasure_z_score_p_value.tsv

Trait-level enrichment files:



National Institutes of Health grant R35GM127087 (J.A.C)

National Institutes of Health grant R01HD101669 (J.A.C.)

National Institutes of Health grant R56AI146096 (A.R)

National Institutes of Health grants R01AI153356 (A.R.)

Burroughs Wellcome Fund Preterm Birth Initiative (J.A.C and A.R.)

National Science Foundation grant DEB-2110404 (A.R.)

March of Dimes through the March of Dimes Prematurity Research Center Ohio Collaborative (J.A.C. and A.R.)

A.A. was supported by the American Heart Association fellowship 20PRE35080073

A.A. was supported by the National Institutes of Health under award number T32GM007347

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Research Institution(s)

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