Article
Transcript-aware analysis of rare predicted loss-of-function variants in the UK Biobank elucidate new isoform-trait associations.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2024
Hoffing Rachel A, Deaton Aimee M, Holleman Aaron M, Krohn Lynne, LoGerfo Philip J, Plekan Mollie E, Akle Serrano Sebastian, Nioi Paul, Ward Lucas D
Abstract excerpt
A single gene can produce multiple transcripts with distinct molecular functions. Rare-variant association tests often aggregate all coding variants across individual genes, without accounting for the variants' presence or consequence in resulting transcript isoforms. To evaluate the utility of transcript-aware variant sets, rare predicted loss-of-function (pLOF) variants were aggregated for 17,035 protein-coding...
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