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

Large-scale whole genome sequencing (WGS) studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests (RVATs) have limited scope to leverage variant functions. We propose STAAR (variant-Set Test for Association using Annotation info...

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Publicado en:Nat Genet
Main Authors: Li, Xihao, Li, Zilin, Zhou, Hufeng, Gaynor, Sheila M., Liu, Yaowu, Chen, Han, Sun, Ryan, Dey, Rounak, Arnett, Donna K., Aslibekyan, Stella, Ballantyne, Christie M., Bielak, Lawrence F., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Broome, Jai G., Conomos, Matthew P., Correa, Adolfo, Cupples, L. Adrienne, Curran, Joanne E., Freedman, Barry I., Guo, Xiuqing, Hindy, George, Irvin, Marguerite R., Kardia, Sharon L. R., Kathiresan, Sekar, Khan, Alyna T., Kooperberg, Charles L., Laurie, Cathy C., Liu, X. Shirley, Mahaney, Michael C., Manichaikul, Ani W., Martin, Lisa W., Mathias, Rasika A., McGarvey, Stephen T., Mitchell, Braxton D., Montasser, May E., Moore, Jill E., Morrison, Alanna C., O’Connell, Jeffrey R., Palmer, Nicholette D., Pampana, Akhil, Peralta, Juan M., Peyser, Patricia A., Psaty, Bruce M., Redline, Susan, Rice, Kenneth M., Rich, Stephen S., Smith, Jennifer A., Tiwari, Hemant K., Tsai, Michael Y., Vasan, Ramachandran S., Wang, Fei Fei, Weeks, Daniel E., Weng, Zhiping, Wilson, James G., Yanek, Lisa R., Neale, Benjamin M., Sunyaev, Shamil R., Abecasis, Gonçalo R., Rotter, Jerome I., Willer, Cristen J., Peloso, Gina M., Natarajan, Pradeep, Lin, Xihong
Formato: Artigo
Idioma:Inglês
Publicado: 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7483769/
https://ncbi.nlm.nih.gov/pubmed/32839606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-020-0676-4
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