GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

N Sinnott-Armstrong, S Naqvi, M Rivas, JK Pritchard - Elife, 2021 - elifesciences.org
Genome-wide association studies (GWAS) have been used to study the genetic basis of a
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …

[PDF][PDF] Leveraging polygenic functional enrichment to improve GWAS power

G Kichaev, G Bhatia, PR Loh, S Gazal, K Burch… - The American Journal of …, 2019 - cell.com
Functional genomics data has the potential to increase GWAS power by identifying SNPs
that have a higher prior probability of association. Here, we introduce a method that …

[HTML][HTML] Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits

Y Wu, J Zeng, F Zhang, Z Zhu, T Qi, Z Zheng… - Nature …, 2018 - nature.com
The identification of genes and regulatory elements underlying the associations discovered
by GWAS is essential to understanding the aetiology of complex traits (including diseases) …

[HTML][HTML] 15 years of genome-wide association studies and no signs of slowing down

RJF Loos - Nature communications, 2020 - nature.com
Over the past 15 years, genome-wide association studies (GWASs) have generated a
wealth of new information. Larger samples sizes, refined phenotypes and higher-resolution …

[HTML][HTML] GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies

T Beck, RK Hastings, S Gollapudi, RC Free… - European journal of …, 2014 - nature.com
To facilitate broad and convenient integrative visualization of and access to GWAS data, we
have created the GWAS Central resource (http://www. gwascentral. org). This database …

An atlas of genetic associations in UK Biobank

O Canela-Xandri, K Rawlik, A Tenesa - Nature genetics, 2018 - nature.com
Genome-wide association studies (GWAS) have identified many loci contributing to variation
in complex traits, yet the majority of loci that contribute to the heritability of complex traits …

[HTML][HTML] Exome sequencing and analysis of 454,787 UK Biobank participants

JD Backman, AH Li, A Marcketta, D Sun, J Mbatchou… - Nature, 2021 - nature.com
A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …

[PDF][PDF] 15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - BioRxiv, 2022 - biorxiv.org
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …

[HTML][HTML] From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …