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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 …
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …
Genetics of diabetes mellitus and diabetes complications
Diabetes is one of the fastest growing diseases worldwide, projected to affect 693 million
adults by 2045. Devastating macrovascular complications (cardiovascular disease) and …
adults by 2045. Devastating macrovascular complications (cardiovascular disease) and …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
Polygenic architecture of rare coding variation across 394,783 exomes
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 …
diseases by aggregating information across multiple genetic variants identified from genome …
Regulatory genomic circuitry of human disease loci by integrative epigenomics
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 …
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
The trans-ancestral genomic architecture of glycemic traits
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 …
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
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 …