Article

Whole genome sequencing analysis identifies rare, large-effect non-coding variants and regions associated with circulating protein levels

2023-11-05

Abstract excerpt

The role of non-coding rare variation in common phenotypes is largely unknown, due to a lack of whole-genome sequence data, and the difficulty of categorising non-coding variants into biologically meaningful regulatory units. To begin addressing these challenges, we performed a cis association analysis using whole-genome sequence data, consisting of 391 million variants and 1,450 circulating protein levels in ∼20...

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Literature Corpus work: 62716a90-a7b6-516b-8e8e-1b858f43d318
DOI: 10.1101/2023.11.04.565589

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