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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; 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.; Abe, Namiko; Abecasis, Gonçalo R.; Aguet, Francois; Albert, Christine; Almasy, Laura; Alonso, Alvaro; Ament, Seth; Anderson, Peter; Anugu, Pramod; Applebaum-Bowden, Deborah; Ardlie, Kristin; Arking, Dan; Ashley-Koch, Allison; Assimes, Tim; Auer, Paul; Avramopoulos, Dimitrios; Barnard, John; Barnes, Kathleen; Barr, R. Graham; Barron-Casella, Emily; Barwick, Lucas; Beaty, Terri; Beck, Gerald; Becker, Diane; Becker, Lewis; Beer, Rebecca; Beitelshees, Amber; Benjamin, Emelia; Benos, Takis; Bezerra, Marcos; Bis, Joshua; Blackwell, Thomas; Bowler, Russell; Brody, Jennifer; Broeckel, Ulrich; Bunting, Karen... more authors ... less 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 ...