Article

Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height

2023-11-20

Abstract excerpt

The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100 individuals from three datasets: UK Biobank (N=200,003), TOPMed (N=87,652) and All of Us (N=45,445). We performed rare (<0.1% minor-allele-frequency) single-variant and aggreg...

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Literature Corpus work: 500d2fb2-b0a8-5ef1-b9d8-f7fedbe3a340
DOI: 10.1101/2023.11.19.566520

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