FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

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 in...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Database Issue
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825437/
https://www.ncbi.nlm.nih.gov/pubmed/36350676
http://dx.doi.org/10.1093/nar/gkac966

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