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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 …
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 …
Common and rare variant associations with clonal haematopoiesis phenotypes
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney …
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney …
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …
A cross-population atlas of genetic associations for 220 human phenotypes
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
Polygenic prediction of preeclampsia and gestational hypertension
Preeclampsia and gestational hypertension are common pregnancy complications
associated with adverse maternal and child outcomes. Current tools for prediction …
associated with adverse maternal and child outcomes. Current tools for prediction …
Sleep patterns and risk of chronic disease as measured by long-term monitoring with commercial wearable devices in the All of Us Research Program
Poor sleep health is associated with increased all-cause mortality and incidence of many
chronic conditions. Previous studies have relied on cross-sectional and self-reported survey …
chronic conditions. Previous studies have relied on cross-sectional and self-reported survey …
Genomics and phenomics of body mass index reveals a complex disease network
Elevated body mass index (BMI) is heritable and associated with many health conditions
that impact morbidity and mortality. The study of the genetic association of BMI across a …
that impact morbidity and mortality. The study of the genetic association of BMI across a …
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 …