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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483769/
https://www.ncbi.nlm.nih.gov/pubmed/32839606
http://dx.doi.org/10.1038/s41588-020-0676-4

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