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 …
A global overview of pleiotropy and genetic architecture in complex traits
K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
Estimates from genome-wide association studies (GWAS) of unrelated individuals capture
effects of inherited variation (direct effects), demography (population stratification …
effects of inherited variation (direct effects), demography (population stratification …
Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-
wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of …
wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
Cross-trait assortative mating is widespread and inflates genetic correlation estimates
The observation of genetic correlations between disparate human traits has been
interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative …
interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative …
Tutorial: a guide to performing polygenic risk score analyses
SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
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 association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
MK Bakker, RAA van der Spek, W van Rheenen… - Nature …, 2020 - nature.com
Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of
stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we …
stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we …
Improved polygenic prediction by Bayesian multiple regression on summary statistics
Accurate prediction of an individual's phenotype from their DNA sequence is one of the great
promises of genomics and precision medicine. We extend a powerful individual-level data …
promises of genomics and precision medicine. We extend a powerful individual-level data …
Genetic correlations of polygenic disease traits: from theory to practice
W Van Rheenen, WJ Peyrot, AJ Schork… - Nature Reviews …, 2019 - nature.com
The genetic correlation describes the genetic relationship between two traits and can
contribute to a better understanding of the shared biological pathways and/or the causality …
contribute to a better understanding of the shared biological pathways and/or the causality …