Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale-Reference-Cited by-同舟云学术

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

Published:2020-08-24 Issue:9 Volume:52 Page:969-983
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Li Xihao^ORCID,Li Zilin^ORCID,Zhou Hufeng,Gaynor Sheila M.,Liu Yaowu,Chen Han,Sun Ryan,Dey Rounak,Arnett Donna K.,Aslibekyan Stella,Ballantyne Christie M.^ORCID,Bielak Lawrence F.,Blangero John^ORCID,Boerwinkle Eric,Bowden Donald W.,Broome Jai G.^ORCID,Conomos Matthew P.^ORCID,Correa Adolfo^ORCID,Cupples L. Adrienne^ORCID,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^ORCID,Mahaney Michael C.,Manichaikul Ani W.,Martin Lisa W.^ORCID,Mathias Rasika A.,McGarvey Stephen T.,Mitchell Braxton D.,Montasser May E.,Moore Jill E.^ORCID,Morrison Alanna C.,O’Connell Jeffrey R.,Palmer Nicholette D.^ORCID,Pampana Akhil^ORCID,Peralta Juan M.^ORCID,Peyser Patricia A.^ORCID,Psaty Bruce M.,Redline Susan,Rice Kenneth M.^ORCID,Rich Stephen S.^ORCID,Smith Jennifer A.^ORCID,Tiwari Hemant K.,Tsai Michael Y.,Vasan Ramachandran S.^ORCID,Wang Fei Fei,Weeks Daniel E.^ORCID,Weng Zhiping^ORCID,Wilson James G.,Yanek Lisa R.^ORCID,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,Arnett Donna K.,Ashley-Koch Allison,Aslibekyan Stella,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,Bielak Lawrence F.,Bis Joshua,Blackwell Thomas,Blangero John,Boerwinkle Eric,Bowden Donald W.,Bowler Russell,Brody Jennifer,Broeckel Ulrich,Broome Jai G.,Bunting Karen,Burchard Esteban,Bustamante Carlos,Buth Erin,Cade Brian,Cardwell Jonathan,Carey Vincent,Carty Cara,Casaburi Richard,Casella James,Castaldi Peter,Chaffin Mark,Chang Christy,Chang Yi-Cheng,Chasman Daniel,Chavan Sameer,Chen Bo-Juen,Chen Wei-Min,Chen Yii-Der Ida,Cho Michael,Choi Seung Hoan,Chuang Lee-Ming,Chung Mina,Chung Ren-Hua,Clish Clary,Comhair Suzy,Conomos Matthew P.,Cornell Elaine,Correa Adolfo,Crandall Carolyn,Crapo James,Cupples L. Adrienne,Curran Joanne E.,Curtis Jeffrey,Custer Brian,Damcott Coleen,Darbar Dawood,Das Sayantan,David Sean,Davis Colleen,Daya Michelle,de Andrade Mariza,Fuentes Lisa de las,DeBaun Michael,Deka Ranjan,DeMeo Dawn,Devine Scott,Duan Qing,Duggirala Ravi,Durda Jon Peter,Dutcher Susan,Eaton Charles,Ekunwe Lynette,El Boueiz Adel,Ellinor Patrick,Emery Leslie,Erzurum Serpil,Farber Charles,Fingerlin Tasha,Flickinger Matthew,Fornage Myriam,Franceschini Nora,Frazar Chris,Fu Mao,Fullerton Stephanie M.,Fulton Lucinda,Gabriel Stacey,Gan Weiniu,Gao Shanshan,Gao Yan,Gass Margery,Gelb Bruce,Geng Xiaoqi,Geraci Mark,Germer Soren,Gerszten Robert,Ghosh Auyon,Gibbs Richard,Gignoux Chris,Gladwin Mark,Glahn David,Gogarten Stephanie,Gong Da-Wei,Goring Harald,Graw Sharon,Grine Daniel,Gu C. Charles,Guan Yue,Guo Xiuqing,Gupta Namrata,Haessler Jeff,Hall Michael,Harris Daniel,Hawley Nicola L.,He Jiang,Heckbert Susan,Hernandez Ryan,Herrington David,Hersh Craig,Hidalgo Bertha,Hixson James,Hobbs Brian,Hokanson John,Hong Elliott,Hoth Karin,Hsiung Chao,Hung Yi-Jen,Huston Haley,Hwu Chii Min,Irvin Marguerite R.,Jackson Rebecca,Jain Deepti,Jaquish Cashell,Jhun Min A.,Johnsen Jill,Johnson Andrew,Johnson Craig,Johnston Rich,Jones Kimberly,Kang Hyun Min,Kaplan Robert,Kardia Sharon L. R.,Kathiresan Sekar,Kelly Shannon,Kenny Eimear,Kessler Michael,Khan Alyna T.,Kim Wonji,Kinney Greg,Konkle Barbara,Kooperberg Charles L.,Kramer Holly,Lange Christoph,Lange Ethan,Lange Leslie,Laurie Cathy C.,Laurie Cecelia,LeBoff Meryl,Lee Jiwon,Lee Seunggeun Shawn,Lee Wen-Jane,LeFaive Jonathon,Levine David,Levy Dan,Lewis Joshua,Li Xiaohui,Li Yun,Lin Henry,Lin Honghuang,Lin Keng Han,Lin Xihong,Liu Simin,Liu Yongmei,Liu Yu,Loos Ruth J. F.,Lubitz Steven,Lunetta Kathryn,Luo James,Mahaney Michael C.,Make Barry,Manichaikul Ani W.,Manson JoAnn,Margolin Lauren,Martin Lisa W.,Mathai Susan,Mathias Rasika A.,May Susanne,McArdle Patrick,McDonald Merry-Lynn,McFarland Sean,McGarvey Stephen T.,McGoldrick Daniel,McHugh Caitlin,Mei Hao,Mestroni Luisa,Meyers Deborah A.,Mikulla Julie,Min Nancy,Minear Mollie,Minster Ryan L.,Mitchell Braxton D.,Moll Matt,Montasser May E.,Montgomery Courtney,Moscati Arden,Musani Solomon,Mwasongwe Stanford,Mychaleckyj Josyf C.,Nadkarni Girish,Naik Rakhi,Naseri Take,Natarajan Pradeep,Nekhai Sergei,Nelson Sarah C.,Neltner Bonnie,Nickerson Deborah,North Kari,O’Connell Jeffrey R.,O’Connor Tim,Ochs-Balcom Heather,Paik David,Palmer Nicholette D.,Pankow James,Papanicolaou George,Parsa Afshin,Peralta Juan M.,Perez Marco,Perry James,Peters Ulrike,Peyser Patricia A.,Phillips Lawrence S.,Pollin Toni,Post Wendy,Becker Julia Powers,Boorgula Meher Preethi,Preuss Michael,Psaty Bruce M.,Qasba Pankaj,Qiao Dandi,Qin Zhaohui,Rafaels Nicholas,Raffield Laura,Vasan Ramachandran S.,Rao D. C.,Rasmussen-Torvik Laura,Ratan Aakrosh,Redline Susan,Reed Robert,Regan Elizabeth,Reiner Alex,Reupena Muagututi‘a Sefuiva,Rice Kenneth M.,Rich Stephen S.,Roden Dan,Roselli Carolina,Rotter Jerome I.,Ruczinski Ingo,Russell Pamela,Ruuska Sarah,Ryan Kathleen,Sabino Ester Cerdeira,Saleheen Danish,Salimi Shabnam,Salzberg Steven,Sandow Kevin,Sankaran Vijay G.,Scheller Christopher,Schmidt Ellen,Schwander Karen,Schwartz David,Sciurba Frank,Seidman Christine,Seidman Jonathan,Sheehan Vivien,Sherman Stephanie L.,Shetty Amol,Shetty Aniket,Sheu Wayne Hui-Heng,Shoemaker M. Benjamin,Silver Brian,Silverman Edwin,Smith Jennifer A.,Smith Josh,Smith Nicholas,Smith Tanja,Smoller Sylvia,Snively Beverly,Snyder Michael,Sofer Tamar,Sotoodehnia Nona,Stilp Adrienne M.,Storm Garrett,Streeten Elizabeth,Su Jessica Lasky,Sung Yun Ju,Sylvia Jody,Szpiro Adam,Sztalryd Carole,Taliun Daniel,Tang Hua,Taub Margaret,Taylor Kent D.,Taylor Matthew,Taylor Simeon,Telen Marilyn,Thornton Timothy A.,Threlkeld Machiko,Tinker Lesley,Tirschwell David,Tishkoff Sarah,Tiwari Hemant K.,Tong Catherine,Tracy Russell,Tsai Michael Y.,Vaidya Dhananjay,Van Den Berg David,VandeHaar Peter,Vrieze Scott,Walker Tarik,Wallace Robert,Walts Avram,Wang Fei Fei,Wang Heming,Watson Karol,Weeks Daniel E.,Weir Bruce,Weiss Scott,Weng Lu-Chen,Wessel Jennifer,Willer Cristen J.,Williams Kayleen,Williams L. Keoki,Wilson Carla,Wilson James G.,Wong Quenna,Wu Joseph,Xu Huichun,Yanek Lisa R.,Yang Ivana,Yang Rongze,Zaghloul Norann,Zekavat Maryam,Zhang Yingze,Zhao Snow Xueyan,Zhao Wei,Zhi Degui,Zhou Xiang,Zhu Xiaofeng,Zody Michael,Zoellner Sebastian,Abdalla Moustafa,Abecasis Gonçalo R.,Arnett Donna K.,Aslibekyan Stella,Assimes Tim,Atkinson Elizabeth,Ballantyne Christie M.,Beitelshees Amber,Bielak Lawrence F.,Bis Joshua,Bodea Corneliu,Boerwinkle Eric,Bowden Donald W.,Brody Jennifer,Cade Brian,Carlson Jenna,Chang I-Shou,Chen Yii-Der Ida,Chun Sung,Chung Ren-Hua,Conomos Matthew P.,Correa Adolfo,Cupples L. Adrienne,Damcott Coleen,de Vries Paul,Do Ron,Elliott Amanda,Fu Mao,Ganna Andrea,Gong Da-Wei,Graham Sarah,Haas Mary,Haring Bernhard,He Jiang,Heckbert Susan,Himes Blanca,Hixson James,Irvin Marguerite R.,Jain Deepti,Jarvik Gail,Jhun Min A.,Jiang Jicai,Jun Goo,Kalyani Rita,Kardia Sharon L. R.,Kathiresan Sekar,Khera Amit,Klarin Derek,Kooperberg Charles L.,Kral Brian,Lange Leslie,Laurie Cathy C.,Laurie Cecelia,Lemaitre Rozenn,Li Zilin,Li Xihao,Lin Xihong,Mahaney Michael C.,Manichaikul Ani W.,Martin Lisa W.,Mathias Rasika A.,Mathur Ravi,McGarvey Stephen T.,McHugh Caitlin,McLenithan John,Mikulla Julie,Mitchell Braxton D.,Montasser May E.,Moran Andrew,Morrison Alanna C.,Nakao Tetsushi,Natarajan Pradeep,Nickerson Deborah,North Kari,O’Connell Jeffrey R.,O’Donnell Christopher,Palmer Nicholette D.,Pampana Akhil,Patel Aniruddh,Peloso Gina M.,Perry James,Peters Ulrike,Peyser Patricia A.,Pirruccello James,Pollin Toni,Preuss Michael,Psaty Bruce M.,Rao D. C.,Redline Susan,Reed Robert,Reiner Alex,Rich Stephen S.,Rosenthal Samantha,Rotter Jerome I.,Schoenberg Jenny,Selvaraj Margaret Sunitha,Sheu Wayne Hui-Heng,Smith Jennifer A.,Sofer Tamar,Stilp Adrienne M.,Sunyaev Shamil R.,Surakka Ida,Sztalryd Carole,Tang Hua,Taylor Kent D.,Tsai Michael Y.,Uddin Md Mesbah,Urbut Sarah,Verbanck Marie,Von Holle Ann,Wang Heming,Wang Fei Fei,Wiggins Kerri,Willer Cristen J.,Wilson James G.,Wolford Brooke,Xu Huichun,Yanek Lisa R.,Zaghloul Norann,Zekavat Maryam,Zhang Jingwen,Neale Benjamin M.^ORCID,Sunyaev Shamil R.^ORCID,Abecasis Gonçalo R.^ORCID,Rotter Jerome I.^ORCID,Willer Cristen J.^ORCID,Peloso Gina M.,Natarajan Pradeep^ORCID,Lin Xihong^ORCID, ,

Funder

U.S. Department of Health & Human Services | NIH | National Cancer Institute

U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute

U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases

U.S. Department of Health & Human Services | NIH | National Institute of Mental Health

U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke

U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases

U.S. Department of Health & Human Services | NIH | National Institute on Aging

U.S. Department of Health & Human Services | NIH | National Center for Research Resources

The American Diabetes Association

U.S. Department of Health & Human Services | National Institutes of Health

U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences

U.S. Department of Health & Human Services | NIH | National Institute of Nursing Research

The Evans Medical Foundation and the Jay and Louis Coffman Endowment from the Department of Medicine, Boston University School of Medicine

U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences

Vetenskapsrådet

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

https://www.nature.com/articles/s41588-020-0676-4.pdf

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