Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Methods of integrating data to uncover genotype–phenotype interactions

MD Ritchie, ER Holzinger, R Li… - Nature Reviews …, 2015 - nature.com
Recent technological advances have expanded the breadth of available omic data, from
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …

Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects

LJ Howe, MG Nivard, TT Morris, AF Hansen… - Nature …, 2022 - nature.com
Estimates from genome-wide association studies (GWAS) of unrelated individuals capture
effects of inherited variation (direct effects), demography (population stratification …

Avoiding dynastic, assortative mating, and population stratification biases in Mendelian randomization through within-family analyses

B Brumpton, E Sanderson, K Heilbron… - Nature …, 2020 - nature.com
Estimates from Mendelian randomization studies of unrelated individuals can be biased due
to uncontrolled confounding from familial effects. Here we describe methods for within-family …

Second-generation PLINK: rising to the challenge of larger and richer datasets

CC Chang, CC Chow, LCAM Tellier, S Vattikuti… - …, 2015 - academic.oup.com
Background PLINK 1 is a widely used open-source C/C++ toolset for genome-wide
association studies (GWAS) and research in population genetics. However, the steady …

Reduced signal for polygenic adaptation of height in UK Biobank

JJ Berg, A Harpak, N Sinnott-Armstrong… - Elife, 2019 - elifesciences.org
Several recent papers have reported strong signals of selection on European polygenic
height scores. These analyses used height effect estimates from the GIANT consortium and …

DNA methylation age of blood predicts all-cause mortality in later life

RE Marioni, S Shah, AF McRae, BH Chen, E Colicino… - Genome biology, 2015 - Springer
Background DNA methylation levels change with age. Recent studies have identified
biomarkers of chronological age based on DNA methylation levels. It is not yet known …

Comprehensive evaluation of map** complex traits in wheat using genome-wide association studies

DK Saini, Y Chopra, J Singh, KS Sandhu, A Kumar… - Molecular …, 2022 - Springer
Genome-wide association studies (GWAS) are effectively applied to detect the marker trait
associations (MTAs) using whole genome-wide variants for complex quantitative traits in …

Mixed linear model approach adapted for genome-wide association studies

Z Zhang, E Ersoz, CQ Lai, RJ Todhunter, HK Tiwari… - Nature …, 2010 - nature.com
Mixed linear model (MLM) methods have proven useful in controlling for population structure
and relatedness within genome-wide association studies. However, MLM-based methods …

PLINK: a tool set for whole-genome association and population-based linkage analyses

S Purcell, B Neale, K Todd-Brown, L Thomas… - The American journal of …, 2007 - cell.com
Whole-genome association studies (WGAS) bring new computational, as well as analytic,
challenges to researchers. Many existing genetic-analysis tools are not designed to handle …