Article
RAVAR: a curated repository for rare variant-trait associations.
Nucleic acids research - 5 Jan 2024
Cao Chen, Shao Mengting, Zuo Chunman, Kwok Devin, Liu Lin, Ge Yuli, Zhang Zilong, Cui Feifei, Chen Mingshuai, Fan Rui, Ding Yijie, Jiang Hangjin, Wang Guishen, Zou Quan
Abstract excerpt
Rare variants contribute significantly to the genetic causes of complex traits, as they can have much larger effects than common variants and account for much of the missing heritability in genome-wide association studies. The emergence of UK Biobank scale datasets and accurate gene-level rare variant-trait association testing methods have dramatically increased the number of rare variant associations that have...
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