Browsing College of Medicine by Subject "Rare Variant Association Analysis"

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    • Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale 

      Li, Xihao; Li, Zilin; Zhou, Hufeng; Gaynor, Sheila M.; Liu, Yaowu; ... more authors ( Nature Research , 2020 , Article)
      Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions. We propose ...