Pleiotropy, epistasis and the genetic architecture of quantitative traits

TFC Mackay, RRH Anholt - Nature Reviews Genetics, 2024 - nature.com
Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …

Genetics of diabetes mellitus and diabetes complications

JB Cole, JC Florez - Nature reviews nephrology, 2020 - nature.com
Diabetes is one of the fastest growing diseases worldwide, projected to affect 693 million
adults by 2045. Devastating macrovascular complications (cardiovascular disease) and …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

Regulatory genomic circuitry of human disease loci by integrative epigenomics

CA Boix, BT James, YP Park, W Meuleman, M Kellis - Nature, 2021 - nature.com
Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …

The trans-ancestral genomic architecture of glycemic traits

J Chen, CN Spracklen, G Marenne, A Varshney… - Nature …, 2021 - nature.com
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic
health. To date, most genetic studies of glycemic traits have focused on individuals of …

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions

DM Howard, MJ Adams, TK Clarke, JD Hafferty… - Nature …, 2019 - nature.com
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 …