Genome-wide association studies
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 …
across many genomes to find those statistically associated with a specific trait or disease …
Tutorial: a guide to performing polygenic risk score analyses
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …
genetic liability to a trait or disease, calculated according to their genotype profile and …
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways
Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
PRSice-2: Polygenic Risk Score software for biobank-scale data
Background Polygenic risk score (PRS) analyses have become an integral part of
biomedical research, exploited to gain insights into shared aetiology among traits, to control …
biomedical research, exploited to gain insights into shared aetiology among traits, to control …
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Background Genome-wide association studies (GWAS) in Parkinson's disease have
increased the scope of biological knowledge about the disease over the past decade. We …
increased the scope of biological knowledge about the disease over the past decade. We …
Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions
Major depression is a debilitating psychiatric illness that is typically associated with low
mood and anhedonia. Depression has a heritable component that has remained difficult to …
mood and anhedonia. Depression has a heritable component that has remained difficult to …
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20
disease-associated genomic loci. Yet these only explain a small proportion of the genetic …
disease-associated genomic loci. Yet these only explain a small proportion of the genetic …
Fine-map** type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …
European-descent individuals (9% cases), after imputation to high-density reference panels …
[HTML][HTML] DNA methylation GrimAge version 2
We previously described a DNA methylation (DNAm) based biomarker of human mortality
risk DNAm GrimAge. Here we describe version 2 of GrimAge (trained on individuals aged …
risk DNAm GrimAge. Here we describe version 2 of GrimAge (trained on individuals aged …
Polygenic prediction via Bayesian regression and continuous shrinkage priors
Polygenic risk scores (PRS) have shown promise in predicting human complex traits and
diseases. Here, we present PRS-CS, a polygenic prediction method that infers posterior …
diseases. Here, we present PRS-CS, a polygenic prediction method that infers posterior …