Deciphering the impact of genomic variation on function
Code of Conduct Committee (alphabetical by last name … - Nature, 2024 - nature.com
Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …
functions to phenotypes in health and disease. Studying the differences in DNA sequence …
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 …
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 …
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 …
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 …
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 …
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
T Roychowdhury, D Klarin, MG Levin, JM Spin… - Nature …, 2023 - nature.com
Abdominal aortic aneurysm (AAA) is a common disease with substantial heritability. In this
study, we performed a genome-wide association meta-analysis from 14 discovery cohorts …
study, we performed a genome-wide association meta-analysis from 14 discovery cohorts …
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 …
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis
In this study, we leveraged the combined evidence of rare coding variants and common
alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale …
alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale …