From genome-wide associations to candidate causal variants by statistical fine-mapping

DJ Schaid, W Chen, NB Larson - Nature Reviews Genetics, 2018 - nature.com
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …

Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

N Rahmioglu, S Mortlock, M Ghiasi, PL Møller… - Nature …, 2023 - nature.com
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …

Large-scale plasma proteomics comparisons through genetics and disease associations

GH Eldjarn, E Ferkingstad, SH Lund, H Helgason… - Nature, 2023 - nature.com
High-throughput proteomics platforms measuring thousands of proteins in plasma combined
with genomic and phenotypic information have the power to bridge the gap between the …

Genome-wide enhancer maps link risk variants to disease genes

J Nasser, DT Bergman, CP Fulco, P Guckelberger… - Nature, 2021 - nature.com
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …

Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

JA Morris, C Caragine, Z Daniloski, J Domingo, T Barry… - Science, 2023 - science.org
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …

The power of genetic diversity in genome-wide association studies of lipids

SE Graham, SL Clarke, KHH Wu, S Kanoni, GJM Zajac… - Nature, 2021 - nature.com
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use. Despite …

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …

Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis

K Ishigaki, S Sakaue, C Terao, Y Luo, K Sonehara… - Nature …, 2022 - nature.com
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …