Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic

EA Boyle, YI Li, JK Pritchard - Cell, 2017 - cell.com
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …

A saturated map of common genetic variants associated with human height

L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell… - Nature, 2022 - nature.com
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

The sequences of 150,119 genomes in the UK Biobank

BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

E Evangelou, HR Warren, D Mosen-Ansorena… - Nature …, 2018 - nature.com
High blood pressure is a highly heritable and modifiable risk factor for cardiovascular
disease. We report the largest genetic association study of blood pressure traits (systolic …

10 years of GWAS discovery: biology, function, and translation

PM Visscher, NR Wray, Q Zhang, P Sklar… - The American Journal of …, 2017 - cell.com
Application of the experimental design of genome-wide association studies (GWASs) is now
10 years old (young), and here we review the remarkable range of discoveries it has …

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

MH Chen, LM Raffield, A Mousas, S Sakaue… - Cell, 2020 - cell.com
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …

Genetics of blood lipids among~ 300,000 multi-ethnic participants of the Million Veteran Program

D Klarin, SM Damrauer, K Cho, YV Sun, TM Teslovich… - Nature …, 2018 - nature.com
Abstract The Million Veteran Program (MVP) was established in 2011 as a national research
initiative to determine how genetic variation influences the health of US military veterans …

Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …