A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …
biomedical traits, particularly those related to the onset and progression of human disease …
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 …
The MRC IEU OpenGWAS data infrastructure
B Elsworth, M Lyon, T Alexander, Y Liu, P Matthews… - BioRxiv, 2020 - biorxiv.org
Data generated by genome-wide association studies (GWAS) are growing fast with the
linkage of biobank samples to health records, and expanding capture of high-dimensional …
linkage of biobank samples to health records, and expanding capture of high-dimensional …
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
We investigated type 2 diabetes (T2D) genetic susceptibility via multi-ancestry meta-analysis
of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP), DIAMANTE …
of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP), DIAMANTE …
[HTML][HTML] A large-scale genome-wide association study meta-analysis of cannabis use disorder
Background Variation in liability to cannabis use disorder has a strong genetic component
(estimated twin and family heritability about 50–70%) and is associated with negative …
(estimated twin and family heritability about 50–70%) and is associated with negative …
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
The overwhelming majority of participants in current genetic studies are of European
ancestry. To elucidate disease biology in the East Asian population, we conducted a …
ancestry. To elucidate disease biology in the East Asian population, we conducted a …
[HTML][HTML] Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
Descriptive, predictive and explanatory personality research: Different goals, different approaches, but a shared need to move beyond the Big Few traits
We argue that it is useful to distinguish between three key goals of personality science—
description, prediction and explanation—and that attaining them often requires different …
description, prediction and explanation—and that attaining them often requires different …
Mendelian randomization accounting for correlated and uncorrelated pleiotropic effects using genome-wide summary statistics
Mendelian randomization (MR) is a valuable tool for detecting causal effects by using
genetic variant associations. Opportunities to apply MR are growing rapidly with the …
genetic variant associations. Opportunities to apply MR are growing rapidly with the …
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor
subtype,–. To identify novel loci, we performed a genome-wide association study including …
subtype,–. To identify novel loci, we performed a genome-wide association study including …