Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank

Abstract excerpt

BACKGROUND: Mosaic chromosomal alterations (mCAs) are large chromosomal gains, losses and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many individuals with detectable mCAs have no notable adverse outcomes, mCA-associated gene dosage alterations as well as clonal expansion of mutated leukocyte clones could increase susceptibility to disease. RESULTS: We performed a phenome-wide...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acute Myeloid Leukemia Research
• Share to Genetic Associations and Epidemiology
• Share to Genomic variations and chromosomal abnormalities