CNV
Catalog entries using this tag (links open the entry card on its page):
Entries
UK Biobank — WES-derived CNV analysis
PUBMED_LINK
STAGE_PERIOD
2024
DESCRIPTION
Protein-altering CNV analysis from WES data in 468,570 participants. CNV-pQTL validation and phenome-wide associations covering 41 quantitative traits.
URL
TITLE
Protein-altering variants at copy number-variable regions influence diverse human phenotypes
UK Biobank — WGS-derived CNV PheWAS
PUBMED_LINK
STAGE_PERIOD
2023.11
DESCRIPTION
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes, including CNV-pQTL and phenome-wide associations.
URL
TITLE
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes