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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

Title: Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Authors: Li, XihaoAff1; Li, ZilinAff1; Zhou, HufengAff1; Gaynor, Sheila M.Aff1; Liu, YaowuAff2; Chen, HanAff3, Aff4; Sun, RyanAff5; Dey, RounakAff1; Arnett, Donna K.Aff6; Aslibekyan, StellaAff7; Ballantyne, Christie M.Aff8; Bielak, Lawrence F.Aff9; Blangero, JohnAff10; Boerwinkle, EricAff3, Aff11; Bowden, Donald W.Aff12; Broome, Jai G.Aff13; Conomos, Matthew P.Aff14; Correa, AdolfoAff15; Cupples, L. AdrienneAff16, Aff17; Curran, Joanne E.Aff10; Freedman, Barry I.Aff18; Guo, XiuqingAff19; Hindy, GeorgeAff20; Irvin, Marguerite R.Aff7; Kardia, Sharon L. R.Aff9; Kathiresan, SekarAff21, Aff22, Aff23; Khan, Alyna T.Aff14; Kooperberg, Charles L.Aff24; Laurie, Cathy C.Aff14; Liu, X. ShirleyAff25, Aff26; Mahaney, Michael C.Aff10; Manichaikul, Ani W.Aff27; Martin, Lisa W.Aff28; Mathias, Rasika A.Aff29; McGarvey, Stephen T.Aff30; Mitchell, Braxton D.Aff31, Aff32; Montasser, May E.Aff33; Moore, Jill E.Aff34; Morrison, Alanna C.Aff3; O’Connell, Jeffrey R.Aff31; Palmer, Nicholette D.Aff12; Pampana, AkhilAff35, Aff36; Peralta, Juan M.Aff10; Peyser, Patricia A.Aff9; Psaty, Bruce M.Aff37, Aff38; Redline, SusanAff39, Aff40, Aff41; Rice, Kenneth M.Aff14; Rich, Stephen S.Aff27; Smith, Jennifer A.Aff9, Aff42; Tiwari, Hemant K.Aff43; Tsai, Michael Y.Aff44; Vasan, Ramachandran S.Aff17, Aff45; Wang, Fei FeiAff14; Weeks, Daniel E.Aff46; Weng, ZhipingAff34; Wilson, James G.Aff47, Aff48; Yanek, Lisa R.Aff29; Neale, Benjamin M.Aff35, Aff49, Aff50; Sunyaev, Shamil R.Aff35, Aff51, Aff52; Abecasis, Gonçalo R.Aff53, Aff54; Rotter, Jerome I.Aff19; Willer, Cristen J.Aff55, Aff56, Aff57; Peloso, Gina M.Aff16; Natarajan, PradeepAff23, Aff35, Aff36; Lin, XihongAff1, Aff26, Aff35, IDs4158802006764_cor67; Abe, NamikoAff58; Abecasis, Gonçalo R.Aff53, Aff54; Aguet, FrancoisAff59; Albert, ChristineAff60; Almasy, LauraAff61; Alonso, AlvaroAff62; Ament, SethAff63; Anderson, PeterAff64; Anugu, PramodAff65; Applebaum-Bowden, DeborahAff66; Ardlie, KristinAff59; Arking, DanAff67; Ashley-Koch, AllisonAff68; Assimes, TimAff69; Auer, PaulAff70; Avramopoulos, DimitriosAff67; Barnard, JohnAff71; Barnes, KathleenAff72; Barr, R. GrahamAff73; Barron-Casella, EmilyAff67; Barwick, LucasAff74; Beaty, TerriAff67; Beck, GeraldAff75; Becker, DianeAff76; Becker, LewisAff67; Beer, RebeccaAff77; Beitelshees, AmberAff63; Benjamin, EmeliaAff78; Benos, TakisAff79; Bezerra, MarcosAff80; Bis, JoshuaAff81; Blackwell, ThomasAff82; Blangero, JohnAff10; Bowler, RussellAff83; Brody, JenniferAff64; Broeckel, UlrichAff84; Broome, Jai G.Aff13; Bunting, KarenAff58; Burchard, EstebanAff85; Bustamante, CarlosAff86; Buth, ErinAff87; Cade, BrianAff88; Cardwell, JonathanAff89; Carey, VincentAff90; Carty, CaraAff91; Casaburi, RichardAff92; Casella, JamesAff67; Castaldi, PeterAff93; Chaffin, MarkAff94; Chang, ChristyAff63; Chang, Yi-ChengAff95; Chasman, DanielAff96; Chavan, SameerAff89; Chen, Bo-JuenAff58; Chen, Wei-MinAff97; Chen, Yii-Der IdaAff98; Cho, MichaelAff99; Choi, Seung HoanAff94; Chuang, Lee-MingAff100; Chung, MinaAff101; Chung, Ren-HuaAff102; Clish, ClaryAff103; Comhair, SuzyAff104; Conomos, Matthew P.Aff14; Cornell, ElaineAff105; Correa, AdolfoAff15; Crandall, CarolynAff92; Crapo, JamesAff106; Cupples, L. AdrienneAff16, Aff17; Curtis, JeffreyAff82; Custer, BrianAff107; Damcott, ColeenAff63; Darbar, DawoodAff108; Das, SayantanAff82; David, SeanAff109; Davis, ColleenAff64; Daya, MichelleAff89; de Andrade, MarizaAff110; Fuentes, Lisa de lasAff111; DeBaun, MichaelAff112; Deka, RanjanAff113; DeMeo, DawnAff99; Devine, ScottAff63; Duan, QingAff114; Duggirala, RaviAff115; Durda, Jon PeterAff105; Dutcher, SusanAff116; Eaton, CharlesAff117; Ekunwe, LynetteAff65; El Boueiz, AdelAff118; Ellinor, PatrickAff119; Emery, LeslieAff64; Erzurum, SerpilAff120; Farber, CharlesAff97; Fingerlin, TashaAff121; Flickinger, MatthewAff82; Fornage, MyriamAff122; Franceschini, NoraAff123; Frazar, ChrisAff124; Fu, MaoAff63; Fullerton, Stephanie M.Aff64; Fulton, LucindaAff116; Gabriel, StaceyAff94; Gan, WeiniuAff77; Gao, ShanshanAff125; Gao, YanAff65; Gass, MargeryAff126; Gelb, BruceAff127; Geng, Xiaoqi (Priscilla)Aff82; Geraci, MarkAff128; Germer, SorenAff58; Gerszten, RobertAff129; Ghosh, AuyonAff130; Gibbs, RichardAff131; Gignoux, ChrisAff69; Gladwin, MarkAff132; Glahn, DavidAff133; Gogarten, StephanieAff64; Gong, Da-WeiAff63; Goring, HaraldAff134; Graw, SharonAff135; Grine, DanielAff125; Gu, C. CharlesAff116; Guan, YueAff63; Gupta, NamrataAff59; Haessler, JeffAff126; Hall, MichaelAff65; Harris, DanielAff63; Hawley, Nicola L.Aff136; He, JiangAff137; Heckbert, SusanAff64; Hernandez, RyanAff138; Herrington, DavidAff139; Hersh, CraigAff140; Hidalgo, BerthaAff141; Hixson, JamesAff122; Hobbs, BrianAff90; Hokanson, JohnAff89; Hong, ElliottAff63; Hoth, KarinAff142; Hsiung, Chao (Agnes)Aff143; Hung, Yi-JenAff144; Huston, HaleyAff145; Hwu, Chii MinAff146; Jackson, RebeccaAff147; Jain, DeeptiAff64; Jaquish, CashellAff77; Jhun, Min A.Aff82; Johnsen, JillAff148; Johnson, AndrewAff77; Johnson, CraigAff64; Johnston, RichAff62; Jones, KimberlyAff67; Kang, Hyun MinAff149; Kaplan, RobertAff150; Kelly, ShannonAff107; Kenny, EimearAff127; Kessler, MichaelAff63; Kim, WonjiAff151; Kinney, GregAff89; Konkle, BarbaraAff152; Kramer, HollyAff153; Lange, ChristophAff154; Lange, EthanAff89; Lange, LeslieAff89; Laurie, CeceliaAff64; LeBoff, MerylAff99; Lee, JiwonAff90; Lee, Seunggeun ShawnAff82; Lee, Wen-JaneAff146; LeFaive, JonathonAff82; Levine, DavidAff64; Levy, DanAff77; Lewis, JoshuaAff63; Li, XiaohuiAff155; Li, YunAff114; Lin, HenryAff155; Lin, HonghuangAff156; Lin, Keng HanAff82; Lin, XihongAff1, Aff26, Aff35; Liu, SiminAff157; Liu, YongmeiAff158; Liu, YuAff159; Loos, Ruth J. F.Aff160; Lubitz, StevenAff119; Lunetta, KathrynAff156; Luo, JamesAff77; Make, BarryAff67; Manson, JoAnnAff99; Margolin, LaurenAff94; Martin, Lisa W.Aff28; Mathai, SusanAff89; May, SusanneAff161; McArdle, PatrickAff63; McDonald, Merry-LynnAff141; McFarland, SeanAff162; McGoldrick, DanielAff124; McHugh, CaitlinAff163; Mei, HaoAff65; Mestroni, LuisaAff135; Meyers, Deborah A.Aff164; Mikulla, JulieAff77; Min, NancyAff65; Minear, MollieAff77; Minster, Ryan L.Aff132; Moll, MattAff165; Montgomery, CourtneyAff166; Moscati, ArdenAff167; Musani, SolomonAff168; Mwasongwe, StanfordAff65; Mychaleckyj, Josyf C.Aff97; Nadkarni, GirishAff127; Naik, RakhiAff67; Naseri, TakeAff169; Natarajan, PradeepAff23, Aff35, Aff36; Nekhai, SergeiAff170; Nelson, Sarah C.Aff87; Neltner, BonnieAff125; Nickerson, DeborahAff64; North, KariAff114; O’Connor, TimAff63; Ochs-Balcom, HeatherAff171; Paik, DavidAff172; Palmer, Nicholette D.Aff12; Pankow, JamesAff173; Papanicolaou, GeorgeAff77; Parsa, AfshinAff63; Peralta, Juan M.Aff10; Perez, MarcoAff69; Perry, JamesAff63; Peters, UlrikeAff174; Peyser, Patricia A.Aff9; Phillips, Lawrence S.Aff62; Pollin, ToniAff63; Post, WendyAff175; Becker, Julia PowersAff176; Boorgula, Meher PreethiAff89; Preuss, MichaelAff127; Qasba, PankajAff77; Qiao, DandiAff99; Qin, ZhaohuiAff62; Rafaels, NicholasAff177; Raffield, LauraAff178; Vasan, Ramachandran S.Aff17, Aff45; Rao, D. C.Aff116; Rasmussen-Torvik, LauraAff179; Ratan, AakroshAff97; Reed, RobertAff63; Regan, ElizabethAff106; Reiner, AlexAff174; Reupena, Muagututi‘a SefuivaAff180; Rice, Kenneth M.Aff14; Rich, Stephen S.Aff27; Roden, DanAff181; Roselli, CarolinaAff94; Rotter, Jerome I.Aff19; Ruczinski, IngoAff67; Russell, PamelaAff89; Ruuska, SarahAff182; Ryan, KathleenAff63; Sabino, Ester CerdeiraAff183; Saleheen, DanishAff184; Salimi, ShabnamAff63; Salzberg, StevenAff67; Sandow, KevinAff185; Sankaran, Vijay G.Aff186; Scheller, ChristopherAff82; Schmidt, EllenAff82; Schwander, KarenAff116; Schwartz, DavidAff89; Sciurba, FrankAff132; Seidman, ChristineAff187; Seidman, JonathanAff188; Sheehan, VivienAff189; Sherman, Stephanie L.Aff190; Shetty, AmolAff63; Shetty, AniketAff89; Sheu, Wayne Hui-HengAff146; Shoemaker, M. BenjaminAff191; Silver, BrianAff192; Silverman, EdwinAff99; Smith, Jennifer A.Aff9, Aff42; Smith, JoshAff64; Smith, NicholasAff193; Smith, TanjaAff58; Smoller, SylviaAff150; Snively, BeverlyAff194; Snyder, MichaelAff195; Sofer, TamarAff99; Sotoodehnia, NonaAff64; Stilp, Adrienne M.Aff64; Storm, GarrettAff125; Streeten, ElizabethAff63; Su, Jessica LaskyAff90; Sung, Yun JuAff116; Sylvia, JodyAff99; Szpiro, AdamAff64; Sztalryd, CaroleAff63; Taliun, DanielAff82; Tang, HuaAff196; Taub, MargaretAff67; Taylor, Kent D.Aff197; Taylor, MatthewAff198; Taylor, SimeonAff63; Telen, MarilynAff68; Thornton, Timothy A.Aff64; Threlkeld, MachikoAff199; Tinker, LesleyAff126; Tirschwell, DavidAff64; Tishkoff, SarahAff200; Tong, CatherineAff201; Tracy, RussellAff202; Vaidya, DhananjayAff67; Van Den Berg, DavidAff203; VandeHaar, PeterAff82; Vrieze, ScottAff204, Aff205; Walker, TarikAff89; Wallace, RobertAff142; Walts, AvramAff89; Wang, HemingAff206; Watson, KarolAff92; Weeks, Daniel E.Aff46; Weir, BruceAff64; Weiss, ScottAff99; Weng, Lu-ChenAff119; Wessel, JenniferAff207; Willer, Cristen J.Aff55, Aff56, Aff57; Williams, KayleenAff64; Williams, L. KeokiAff208; Wilson, CarlaAff209; Wong, QuennaAff64; Wu, JosephAff210; Xu, HuichunAff63; Yanek, Lisa R.Aff29; Yang, IvanaAff89; Yang, RongzeAff63; Zaghloul, NorannAff63; Zekavat, MaryamAff94; Zhang, YingzeAff211; Zhao, Snow XueyanAff106; Zhao, WeiAff212; Zhi, DeguiAff122; Zhou, XiangAff82; Zhu, XiaofengAff213; Zody, MichaelAff58; Zoellner, SebastianAff82; Abdalla, MoustafaAff94; Atkinson, ElizabethAff49; Ballantyne, Christie M.Aff8; Bodea, CorneliuAff99; Carlson, JennaAff79; Chang, I-ShouAff102; Chun, SungAff99; de Vries, PaulAff122; Do, RonAff127; Elliott, AmandaAff94; Ganna, AndreaAff94; Graham, SarahAff55; Haas, MaryAff94; Haring, BernhardAff214; Himes, BlancaAff215; Jarvik, GailAff64; Jiang, JicaiAff63; Jun, GooAff122; Kalyani, RitaAff29; Khera, AmitAff94; Klarin, DerekAff94; Kral, BrianAff29; Lemaitre, RozennAff81; Li, ZilinAff1; Li, XihaoAff1; Mathur, RaviAff216; McLenithan, JohnAff63; Moran, AndrewAff184; Nakao, TetsushiAff94; O’Donnell, ChristopherAff217; Pampana, AkhilAff35, Aff36; Patel, AniruddhAff94; Pirruccello, JamesAff94; Rosenthal, SamanthaAff79; Schoenberg, JennyAff126; Selvaraj, Margaret SunithaAff35, Aff36; Sunyaev, Shamil R.Aff35, Aff51, Aff52; Surakka, IdaAff55; Uddin, Md MesbahAff94; Urbut, SarahAff94; Verbanck, MarieAff127; Von Holle, AnnAff114; Wiggins, KerriAff64; Wolford, BrookeAff56; Zhang, JingwenAff1
Source: Nature Genetics. 52(9):969-983
Database: Springer Nature Journals