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 …
Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
Plasma proteomic associations with genetics and health in the UK Biobank
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …
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 …
[HTML][HTML] Organization of the human intestine at single-cell resolution
The intestine is a complex organ that promotes digestion, extracts nutrients, participates in
immune surveillance, maintains critical symbiotic relationships with microbiota and affects …
immune surveillance, maintains critical symbiotic relationships with microbiota and affects …
New insights into the genetic etiology of Alzheimer's disease and related dementias
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
FcγR-mediated SARS-CoV-2 infection of monocytes activates inflammation
SARS-CoV-2 can cause acute respiratory distress and death in some patients. Although
severe COVID-19 is linked to substantial inflammation, how SARS-CoV-2 triggers …
severe COVID-19 is linked to substantial inflammation, how SARS-CoV-2 triggers …
Genetic diversity fuels gene discovery for tobacco and alcohol use
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …
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 …