Literature DB >> 34697483

A massive effort links protein-coding gene variants to health.

Yukinori Okada, Qingbo S Wang.   

Abstract

Entities:  

Keywords:  DNA sequencing; Genetics

Mesh:

Year:  2021        PMID: 34697483     DOI: 10.1038/d41586-021-02873-0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


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  11 in total

1.  The future of genetic studies of complex human diseases.

Authors:  N Risch; K Merikangas
Journal:  Science       Date:  1996-09-13       Impact factor: 47.728

2.  Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Authors:  Frederick E Dewey; Michael F Murray; John D Overton; Lukas Habegger; Joseph B Leader; Samantha N Fetterolf; Colm O'Dushlaine; Cristopher V Van Hout; Jeffrey Staples; Claudia Gonzaga-Jauregui; Raghu Metpally; Sarah A Pendergrass; Monica A Giovanni; H Lester Kirchner; Suganthi Balasubramanian; Noura S Abul-Husn; Dustin N Hartzel; Daniel R Lavage; Korey A Kost; Jonathan S Packer; Alexander E Lopez; John Penn; Semanti Mukherjee; Nehal Gosalia; Manoj Kanagaraj; Alexander H Li; Lyndon J Mitnaul; Lance J Adams; Thomas N Person; Kavita Praveen; Anthony Marcketta; Matthew S Lebo; Christina A Austin-Tse; Heather M Mason-Suares; Shannon Bruse; Scott Mellis; Robert Phillips; Neil Stahl; Andrew Murphy; Aris Economides; Kimberly A Skelding; Christopher D Still; James R Elmore; Ingrid B Borecki; George D Yancopoulos; F Daniel Davis; William A Faucett; Omri Gottesman; Marylyn D Ritchie; Alan R Shuldiner; Jeffrey G Reid; David H Ledbetter; Aris Baras; David J Carey
Journal:  Science       Date:  2016-12-23       Impact factor: 47.728

Review 3.  Advancing the use of genome-wide association studies for drug repurposing.

Authors:  William R Reay; Murray J Cairns
Journal:  Nat Rev Genet       Date:  2021-07-23       Impact factor: 53.242

4.  Rare variant contribution to human disease in 281,104 UK Biobank exomes.

Authors:  Quanli Wang; Ryan S Dhindsa; Keren Carss; Andrew R Harper; Abhishek Nag; Ioanna Tachmazidou; Dimitrios Vitsios; Sri V V Deevi; Alex Mackay; Daniel Muthas; Michael Hühn; Susan Monkley; Henric Olsson; Sebastian Wasilewski; Katherine R Smith; Ruth March; Adam Platt; Carolina Haefliger; Slavé Petrovski
Journal:  Nature       Date:  2021-08-10       Impact factor: 69.504

5.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

6.  The UK Biobank resource with deep phenotyping and genomic data.

Authors:  Clare Bycroft; Colin Freeman; Desislava Petkova; Gavin Band; Lloyd T Elliott; Kevin Sharp; Allan Motyer; Damjan Vukcevic; Olivier Delaneau; Jared O'Connell; Adrian Cortes; Samantha Welsh; Alan Young; Mark Effingham; Gil McVean; Stephen Leslie; Naomi Allen; Peter Donnelly; Jonathan Marchini
Journal:  Nature       Date:  2018-10-10       Impact factor: 49.962

7.  Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

Authors:  Daniel Taliun; Daniel N Harris; Michael D Kessler; Jedidiah Carlson; Zachary A Szpiech; Raul Torres; Sarah A Gagliano Taliun; André Corvelo; Stephanie M Gogarten; Hyun Min Kang; Achilleas N Pitsillides; Jonathon LeFaive; Seung-Been Lee; Xiaowen Tian; Brian L Browning; Sayantan Das; Anne-Katrin Emde; Wayne E Clarke; Douglas P Loesch; Amol C Shetty; Thomas W Blackwell; Albert V Smith; Quenna Wong; Xiaoming Liu; Matthew P Conomos; Dean M Bobo; François Aguet; Christine Albert; Alvaro Alonso; Kristin G Ardlie; Dan E Arking; Stella Aslibekyan; Paul L Auer; John Barnard; R Graham Barr; Lucas Barwick; Lewis C Becker; Rebecca L Beer; Emelia J Benjamin; Lawrence F Bielak; John Blangero; Michael Boehnke; Donald W Bowden; Jennifer A Brody; Esteban G Burchard; Brian E Cade; James F Casella; Brandon Chalazan; Daniel I Chasman; Yii-Der Ida Chen; Michael H Cho; Seung Hoan Choi; Mina K Chung; Clary B Clish; Adolfo Correa; Joanne E Curran; Brian Custer; Dawood Darbar; Michelle Daya; Mariza de Andrade; Dawn L DeMeo; Susan K Dutcher; Patrick T Ellinor; Leslie S Emery; Celeste Eng; Diane Fatkin; Tasha Fingerlin; Lukas Forer; Myriam Fornage; Nora Franceschini; Christian Fuchsberger; Stephanie M Fullerton; Soren Germer; Mark T Gladwin; Daniel J Gottlieb; Xiuqing Guo; Michael E Hall; Jiang He; Nancy L Heard-Costa; Susan R Heckbert; Marguerite R Irvin; Jill M Johnsen; Andrew D Johnson; Robert Kaplan; Sharon L R Kardia; Tanika Kelly; Shannon Kelly; Eimear E Kenny; Douglas P Kiel; Robert Klemmer; Barbara A Konkle; Charles Kooperberg; Anna Köttgen; Leslie A Lange; Jessica Lasky-Su; Daniel Levy; Xihong Lin; Keng-Han Lin; Chunyu Liu; Ruth J F Loos; Lori Garman; Robert Gerszten; Steven A Lubitz; Kathryn L Lunetta; Angel C Y Mak; Ani Manichaikul; Alisa K Manning; Rasika A Mathias; David D McManus; Stephen T McGarvey; James B Meigs; Deborah A Meyers; Julie L Mikulla; Mollie A Minear; Braxton D Mitchell; Sanghamitra Mohanty; May E Montasser; Courtney Montgomery; Alanna C Morrison; Joanne M Murabito; Andrea Natale; Pradeep Natarajan; Sarah C Nelson; Kari E North; Jeffrey R O'Connell; Nicholette D Palmer; Nathan Pankratz; Gina M Peloso; Patricia A Peyser; Jacob Pleiness; Wendy S Post; Bruce M Psaty; D C Rao; Susan Redline; Alexander P Reiner; Dan Roden; Jerome I Rotter; Ingo Ruczinski; Chloé Sarnowski; Sebastian Schoenherr; David A Schwartz; Jeong-Sun Seo; Sudha Seshadri; Vivien A Sheehan; Wayne H Sheu; M Benjamin Shoemaker; Nicholas L Smith; Jennifer A Smith; Nona Sotoodehnia; Adrienne M Stilp; Weihong Tang; Kent D Taylor; Marilyn Telen; Timothy A Thornton; Russell P Tracy; David J Van Den Berg; Ramachandran S Vasan; Karine A Viaud-Martinez; Scott Vrieze; Daniel E Weeks; Bruce S Weir; Scott T Weiss; Lu-Chen Weng; Cristen J Willer; Yingze Zhang; Xutong Zhao; Donna K Arnett; Allison E Ashley-Koch; Kathleen C Barnes; Eric Boerwinkle; Stacey Gabriel; Richard Gibbs; Kenneth M Rice; Stephen S Rich; Edwin K Silverman; Pankaj Qasba; Weiniu Gan; George J Papanicolaou; Deborah A Nickerson; Sharon R Browning; Michael C Zody; Sebastian Zöllner; James G Wilson; L Adrienne Cupples; Cathy C Laurie; Cashell E Jaquish; Ryan D Hernandez; Timothy D O'Connor; Gonçalo R Abecasis
Journal:  Nature       Date:  2021-02-10       Impact factor: 69.504

8.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504

9.  Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Authors:  Cristopher V Van Hout; Ioanna Tachmazidou; Joshua D Backman; Joshua D Hoffman; Daren Liu; Ashutosh K Pandey; Claudia Gonzaga-Jauregui; Shareef Khalid; Bin Ye; Nilanjana Banerjee; Alexander H Li; Colm O'Dushlaine; Anthony Marcketta; Jeffrey Staples; Claudia Schurmann; Alicia Hawes; Evan Maxwell; Leland Barnard; Alexander Lopez; John Penn; Lukas Habegger; Andrew L Blumenfeld; Xiaodong Bai; Sean O'Keeffe; Ashish Yadav; Kavita Praveen; Marcus Jones; William J Salerno; Wendy K Chung; Ida Surakka; Cristen J Willer; Kristian Hveem; Joseph B Leader; David J Carey; David H Ledbetter; Lon Cardon; George D Yancopoulos; Aris Economides; Giovanni Coppola; Alan R Shuldiner; Suganthi Balasubramanian; Michael Cantor; Matthew R Nelson; John Whittaker; Jeffrey G Reid; Jonathan Marchini; John D Overton; Robert A Scott; Gonçalo R Abecasis; Laura Yerges-Armstrong; Aris Baras
Journal:  Nature       Date:  2020-10-21       Impact factor: 69.504

10.  High-depth African genomes inform human migration and health.

Authors:  Ananyo Choudhury; Shaun Aron; Laura R Botigué; Dhriti Sengupta; Gerrit Botha; Taoufik Bensellak; Gordon Wells; Judit Kumuthini; Daniel Shriner; Yasmina J Fakim; Anisah W Ghoorah; Eileen Dareng; Trust Odia; Oluwadamilare Falola; Ezekiel Adebiyi; Scott Hazelhurst; Gaston Mazandu; Oscar A Nyangiri; Mamana Mbiyavanga; Alia Benkahla; Samar K Kassim; Nicola Mulder; Sally N Adebamowo; Emile R Chimusa; Donna Muzny; Ginger Metcalf; Richard A Gibbs; Charles Rotimi; Michèle Ramsay; Adebowale A Adeyemo; Zané Lombard; Neil A Hanchard
Journal:  Nature       Date:  2020-10-28       Impact factor: 69.504

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  1 in total

1.  A Broad m6A Modification Landscape in Inflammatory Bowel Disease.

Authors:  Kai Nie; Jun Yi; Yuanyuan Yang; Minzi Deng; Yan Yang; Tianyu Wang; Xuejie Chen; Zhaoyu Zhang; Xiaoyan Wang
Journal:  Front Cell Dev Biol       Date:  2022-01-19
  1 in total

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