Article
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.
Nucleic acids research - 6 Jan 2023
Zhou Hufeng, Arapoglou Theodore, Li Xihao, Li Zilin, Zheng Xiuwen, Moore Jill, Asok Abhijith, Kumar Sushant, Blue Elizabeth E, Buyske Steven, Cox Nancy, Felsenfeld Adam, Gerstein Mark, Kenny Eimear, Li Bingshan, Matise Tara, Philippakis Anthony, Rehm Heidi L, Sofia Heidi J, Snyder Grace, Weng Zhiping, Neale Benjamin, Sunyaev Shamil R, Lin Xihong
Abstract excerpt
Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a multitude of coding and non-coding variants. They provide an unprecedented resource for illuminating the genetic basis of human diseases. Variant functional annotations play a critical role in WGS analysis, result interpretation, and prioritization of disease- or trait-associated causal variants. Existing functional annotation...
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