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Non-coding rare variant associations with blood traits on 166 740 UK Biobank genomes

2023-12-04

Abstract excerpt

Large biobanks with whole-genome sequencing now enable the association of non-coding rare variants with complex human traits. Given that >98% of the genome is available for exploration, the selection of non-coding variants remains a critical yet unresolved challenge in these analyses. Here, we leverage knowledge of blood gene regulation and deleteriousness scores to select non-coding variants pertinent for associa...

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Literature Corpus work
8a5fa78b-2fb6-5cee-a423-b8bf6d7bdfc5
DOI
10.1101/2023.12.01.569422
Open publication

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Non-coding rare variant associations with blood traits on 166 740 UK Biobank genomesDOI 10.1101/2023.12.01.569422
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