Stroke genetics informs drug discovery and risk prediction across ancestries
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …
death worldwide—were conducted predominantly in populations of European ancestry …
Open problems in human trait genetics
Genetic studies of human traits have revolutionized our understanding of the variation
between individuals, and yet, the genetics of most traits is still poorly understood. In this …
between individuals, and yet, the genetics of most traits is still poorly understood. In this …
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
genomic loci across a range of human diseases and traits. However, most biobanks are …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
KG Aragam, T Jiang, A Goel, S Kanoni, BN Wolford… - Nature …, 2022 - nature.com
The discovery of genetic loci associated with complex diseases has outpaced the
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …
Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism
We report a genome-wide association study of venous thromboembolism (VTE)
incorporating 81,190 cases and 1,419,671 controls sampled from six cohorts. We identify 93 …
incorporating 81,190 cases and 1,419,671 controls sampled from six cohorts. We identify 93 …
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 …
Genetics of chronic respiratory disease
Chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD),
asthma and interstitial lung diseases are frequently occurring disorders with a polygenic …
asthma and interstitial lung diseases are frequently occurring disorders with a polygenic …