Predicting polygenic risk of psychiatric disorders

AR Martin, MJ Daly, EB Robinson, SE Hyman… - Biological …, 2019 - Elsevier
Genetics provides two major opportunities for understanding human disease—as a
transformative line of etiological inquiry and as a biomarker for heritable diseases. In …

Pitfalls of predicting complex traits from SNPs

NR Wray, J Yang, BJ Hayes, AL Price… - Nature Reviews …, 2013 - nature.com
The success of genome-wide association studies (GWASs) has led to increasing interest in
making predictions of complex trait phenotypes, including disease, from genotype data …

Dairying, diseases and the evolution of lactase persistence in Europe

RP Evershed, G Davey Smith, M Roffet-Salque… - Nature, 2022 - nature.com
Abstract In European and many African, Middle Eastern and southern Asian populations,
lactase persistence (LP) is the most strongly selected monogenic trait to have evolved over …

Efficient Bayesian mixed-model analysis increases association power in large cohorts

PR Loh, G Tucker, BK Bulik-Sullivan, BJ Vilhjálmsson… - Nature …, 2015 - nature.com
Linear mixed models are a powerful statistical tool for identifying genetic associations and
avoiding confounding. However, existing methods are computationally intractable in large …

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon… - Nature, 2018 - nature.com
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …

Visualizing spatial population structure with estimated effective migration surfaces

D Petkova, J Novembre, M Stephens - Nature genetics, 2016 - nature.com
Genetic data often exhibit patterns broadly consistent with'isolation by distance'—a
phenomenon where genetic similarity decays with geographic distance. In a heterogeneous …

GCTA: a tool for genome-wide complex trait analysis

J Yang, SH Lee, ME Goddard, PM Visscher - The American Journal of …, 2011 - cell.com
For most human complex diseases and traits, SNPs identified by genome-wide association
studies (GWAS) explain only a small fraction of the heritability. Here we report a user-friendly …

An overview of STRUCTURE: applications, parameter settings, and supporting software

L Porras-Hurtado, Y Ruiz, C Santos, C Phillips… - Frontiers in …, 2013 - frontiersin.org
Objectives: We present an up-to-date review of STRUCTURE software: one of the most
widely used population analysis tools that allows researchers to assess patterns of genetic …

Extreme polygenicity of complex traits is explained by negative selection

LJ O'Connor, AP Schoech, F Hormozdiari… - The American Journal of …, 2019 - cell.com
Complex traits and common diseases are extremely polygenic, their heritability spread
across thousands of loci. One possible explanation is that thousands of genes and loci have …

Hundreds of variants clustered in genomic loci and biological pathways affect human height

H Lango Allen, K Estrada, G Lettre, SI Berndt… - Nature, 2010 - nature.com
Most common human traits and diseases have a polygenic pattern of inheritance: DNA
sequence variants at many genetic loci influence the phenotype. Genome-wide association …