Predicting polygenic risk of psychiatric disorders
Genetics provides two major opportunities for understanding human disease—as a
transformative line of etiological inquiry and as a biomarker for heritable diseases. In …
transformative line of etiological inquiry and as a biomarker for heritable diseases. In …
Pitfalls of predicting complex traits from SNPs
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 …
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 …
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
Linear mixed models are a powerful statistical tool for identifying genetic associations and
avoiding confounding. However, existing methods are computationally intractable in large …
avoiding confounding. However, existing methods are computationally intractable in large …
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
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 …
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 …
phenomenon where genetic similarity decays with geographic distance. In a heterogeneous …
GCTA: a tool for genome-wide complex trait analysis
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 …
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 …
widely used population analysis tools that allows researchers to assess patterns of genetic …
Extreme polygenicity of complex traits is explained by negative selection
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 …
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 …
sequence variants at many genetic loci influence the phenotype. Genome-wide association …