Literature DB >> 33116284

Strategic vision for improving human health at The Forefront of Genomics.

Eric D Green1, Chris Gunter2, Leslie G Biesecker2, Valentina Di Francesco2, Carla L Easter2, Elise A Feingold2, Adam L Felsenfeld2, David J Kaufman2, Elaine A Ostrander2, William J Pavan2, Adam M Phillippy2, Anastasia L Wise2, Jyoti Gupta Dayal2, Britny J Kish2, Allison Mandich2, Christopher R Wellington2, Kris A Wetterstrand2, Sarah A Bates2, Darryl Leja2, Susan Vasquez2, William A Gahl2, Bettie J Graham2, Daniel L Kastner2, Paul Liu2, Laura Lyman Rodriguez2, Benjamin D Solomon2, Vence L Bonham2, Lawrence C Brody2, Carolyn M Hutter2, Teri A Manolio2.   

Abstract

Starting with the launch of the Human Genome Project three decades ago, and continuing after its completion in 2003, genomics has progressively come to have a central and catalytic role in basic and translational research. In addition, studies increasingly demonstrate how genomic information can be effectively used in clinical care. In the future, the anticipated advances in technology development, biological insights, and clinical applications (among others) will lead to more widespread integration of genomics into almost all areas of biomedical research, the adoption of genomics into mainstream medical and public-health practices, and an increasing relevance of genomics for everyday life. On behalf of the research community, the National Human Genome Research Institute recently completed a multi-year process of strategic engagement to identify future research priorities and opportunities in human genomics, with an emphasis on health applications. Here we describe the highest-priority elements envisioned for the cutting-edge of human genomics going forward-that is, at 'The Forefront of Genomics'.

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Year:  2020        PMID: 33116284      PMCID: PMC7869889          DOI: 10.1038/s41586-020-2817-4

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


  91 in total

1.  Initial sequencing and analysis of the human genome.

Authors:  E S Lander; L M Linton; B Birren; C Nusbaum; M C Zody; J Baldwin; K Devon; K Dewar; M Doyle; W FitzHugh; R Funke; D Gage; K Harris; A Heaford; J Howland; L Kann; J Lehoczky; R LeVine; P McEwan; K McKernan; J Meldrim; J P Mesirov; C Miranda; W Morris; J Naylor; C Raymond; M Rosetti; R Santos; A Sheridan; C Sougnez; Y Stange-Thomann; N Stojanovic; A Subramanian; D Wyman; J Rogers; J Sulston; R Ainscough; S Beck; D Bentley; J Burton; C Clee; N Carter; A Coulson; R Deadman; P Deloukas; A Dunham; I Dunham; R Durbin; L French; D Grafham; S Gregory; T Hubbard; S Humphray; A Hunt; M Jones; C Lloyd; A McMurray; L Matthews; S Mercer; S Milne; J C Mullikin; A Mungall; R Plumb; M Ross; R Shownkeen; S Sims; R H Waterston; R K Wilson; L W Hillier; J D McPherson; M A Marra; E R Mardis; L A Fulton; A T Chinwalla; K H Pepin; W R Gish; S L Chissoe; M C Wendl; K D Delehaunty; T L Miner; A Delehaunty; J B Kramer; L L Cook; R S Fulton; D L Johnson; P J Minx; S W Clifton; T Hawkins; E Branscomb; P Predki; P Richardson; S Wenning; T Slezak; N Doggett; J F Cheng; A Olsen; S Lucas; C Elkin; E Uberbacher; M Frazier; R A Gibbs; D M Muzny; S E Scherer; J B Bouck; E J Sodergren; K C Worley; C M Rives; J H Gorrell; M L Metzker; S L Naylor; R S Kucherlapati; D L Nelson; G M Weinstock; Y Sakaki; A Fujiyama; M Hattori; T Yada; A Toyoda; T Itoh; C Kawagoe; H Watanabe; Y Totoki; T Taylor; J Weissenbach; R Heilig; W Saurin; F Artiguenave; P Brottier; T Bruls; E Pelletier; C Robert; P Wincker; D R Smith; L Doucette-Stamm; M Rubenfield; K Weinstock; H M Lee; J Dubois; A Rosenthal; M Platzer; G Nyakatura; S Taudien; A Rump; H Yang; J Yu; J Wang; G Huang; J Gu; L Hood; L Rowen; A Madan; S Qin; R W Davis; N A Federspiel; A P Abola; M J Proctor; R M Myers; J Schmutz; M Dickson; J Grimwood; D R Cox; M V Olson; R Kaul; C Raymond; N Shimizu; K Kawasaki; S Minoshima; G A Evans; M Athanasiou; R Schultz; B A Roe; F Chen; H Pan; J Ramser; H Lehrach; R Reinhardt; W R McCombie; M de la Bastide; N Dedhia; H Blöcker; K Hornischer; G Nordsiek; R Agarwala; L Aravind; J A Bailey; A Bateman; S Batzoglou; E Birney; P Bork; D G Brown; C B Burge; L Cerutti; H C Chen; D Church; M Clamp; R R Copley; T Doerks; S R Eddy; E E Eichler; T S Furey; J Galagan; J G Gilbert; C Harmon; Y Hayashizaki; D Haussler; H Hermjakob; K Hokamp; W Jang; L S Johnson; T A Jones; S Kasif; A Kaspryzk; S Kennedy; W J Kent; P Kitts; E V Koonin; I Korf; D Kulp; D Lancet; T M Lowe; A McLysaght; T Mikkelsen; J V Moran; N Mulder; V J Pollara; C P Ponting; G Schuler; J Schultz; G Slater; A F Smit; E Stupka; J Szustakowki; D Thierry-Mieg; J Thierry-Mieg; L Wagner; J Wallis; R Wheeler; A Williams; Y I Wolf; K H Wolfe; S P Yang; R F Yeh; F Collins; M S Guyer; J Peterson; A Felsenfeld; K A Wetterstrand; A Patrinos; M J Morgan; P de Jong; J J Catanese; K Osoegawa; H Shizuya; S Choi; Y J Chen; J Szustakowki
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

Review 2.  The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic.

Authors:  Elaine R Mardis
Journal:  Cold Spring Harb Perspect Med       Date:  2019-09-03       Impact factor: 6.915

Review 3.  Sequencing of Circulating Cell-free DNA during Pregnancy.

Authors:  Diana W Bianchi; Rossa W K Chiu
Journal:  N Engl J Med       Date:  2018-08-02       Impact factor: 91.245

Review 4.  Paediatric genomics: diagnosing rare disease in children.

Authors:  Caroline F Wright; David R FitzPatrick; Helen V Firth
Journal:  Nat Rev Genet       Date:  2018-02-05       Impact factor: 53.242

Review 5.  Opportunities, resources, and techniques for implementing genomics in clinical care.

Authors:  Teri A Manolio; Robb Rowley; Marc S Williams; Dan Roden; Geoffrey S Ginsburg; Carol Bult; Rex L Chisholm; Patricia A Deverka; Howard L McLeod; George A Mensah; Mary V Relling; Laura Lyman Rodriguez; Cecelia Tamburro; Eric D Green
Journal:  Lancet       Date:  2019-08-05       Impact factor: 79.321

Review 6.  A brief history of human disease genetics.

Authors:  Melina Claussnitzer; Judy H Cho; Rory Collins; Nancy J Cox; Emmanouil T Dermitzakis; Matthew E Hurles; Sekar Kathiresan; Eimear E Kenny; Cecilia M Lindgren; Daniel G MacArthur; Kathryn N North; Sharon E Plon; Heidi L Rehm; Neil Risch; Charles N Rotimi; Jay Shendure; Nicole Soranzo; Mark I McCarthy
Journal:  Nature       Date:  2020-01-08       Impact factor: 49.962

Review 7.  Single-cell and single-molecule epigenomics to uncover genome regulation at unprecedented resolution.

Authors:  Efrat Shema; Bradley E Bernstein; Jason D Buenrostro
Journal:  Nat Genet       Date:  2018-12-17       Impact factor: 38.330

Review 8.  Insights into genetics, human biology and disease gleaned from family based genomic studies.

Authors:  Jennifer E Posey; Anne H O'Donnell-Luria; Jessica X Chong; Tamar Harel; Shalini N Jhangiani; Zeynep H Coban Akdemir; Steven Buyske; Davut Pehlivan; Claudia M B Carvalho; Samantha Baxter; Nara Sobreira; Pengfei Liu; Nan Wu; Jill A Rosenfeld; Sushant Kumar; Dimitri Avramopoulos; Janson J White; Kimberly F Doheny; P Dane Witmer; Corinne Boehm; V Reid Sutton; Donna M Muzny; Eric Boerwinkle; Murat Günel; Deborah A Nickerson; Shrikant Mane; Daniel G MacArthur; Richard A Gibbs; Ada Hamosh; Richard P Lifton; Tara C Matise; Heidi L Rehm; Mark Gerstein; Michael J Bamshad; David Valle; James R Lupski
Journal:  Genet Med       Date:  2019-01-18       Impact factor: 8.822

9.  Expanded encyclopaedias of DNA elements in the human and mouse genomes.

Authors:  Jill E Moore; Michael J Purcaro; Henry E Pratt; Charles B Epstein; Noam Shoresh; Jessika Adrian; Trupti Kawli; Carrie A Davis; Alexander Dobin; Rajinder Kaul; Jessica Halow; Eric L Van Nostrand; Peter Freese; David U Gorkin; Yin Shen; Yupeng He; Mark Mackiewicz; Florencia Pauli-Behn; Brian A Williams; Ali Mortazavi; Cheryl A Keller; Xiao-Ou Zhang; Shaimae I Elhajjajy; Jack Huey; Diane E Dickel; Valentina Snetkova; Xintao Wei; Xiaofeng Wang; Juan Carlos Rivera-Mulia; Joel Rozowsky; Jing Zhang; Surya B Chhetri; Jialing Zhang; Alec Victorsen; Kevin P White; Axel Visel; Gene W Yeo; Christopher B Burge; Eric Lécuyer; David M Gilbert; Job Dekker; John Rinn; Eric M Mendenhall; Joseph R Ecker; Manolis Kellis; Robert J Klein; William S Noble; Anshul Kundaje; Roderic Guigó; Peggy J Farnham; J Michael Cherry; Richard M Myers; Bing Ren; Brenton R Graveley; Mark B Gerstein; Len A Pennacchio; Michael P Snyder; Bradley E Bernstein; Barbara Wold; Ross C Hardison; Thomas R Gingeras; John A Stamatoyannopoulos; Zhiping Weng
Journal:  Nature       Date:  2020-07-29       Impact factor: 69.504

10.  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

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  53 in total

1.  Attitudes among South African university staff and students towards disclosing secondary genetic findings.

Authors:  Georgina Spies; Jolynne Mokaya; Jacqui Steadman; Nicole Schuitmaker; Martin Kidd; S M J Hemmings; Jonathan A Carr; Helena Kuivaniemi; Soraya Seedat
Journal:  J Community Genet       Date:  2020-11-20

2.  A framework for research into continental ancestry groups of the UK Biobank.

Authors:  Andrei-Emil Constantinescu; Ruth E Mitchell; Jie Zheng; Caroline J Bull; Nicholas J Timpson; Borko Amulic; Emma E Vincent; David A Hughes
Journal:  Hum Genomics       Date:  2022-01-29       Impact factor: 4.639

3.  Genetic correction strategies for Duchenne Muscular Dystrophy and their impact on the heart.

Authors:  Jamie R Johnston; Elizabeth M McNally
Journal:  Prog Pediatr Cardiol       Date:  2021-11-02

Review 4.  The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are heading.

Authors:  Geoffrey Ginsburg; Michelle Penny; W Gregory Feero; Mona Miller; Siobhan Addie; Sarah H Beachy
Journal:  Am J Hum Genet       Date:  2021-10-07       Impact factor: 11.025

5.  Prognostic value of polygenic risk scores for adults with psychosis.

Authors:  Isotta Landi; Deepak A Kaji; Liam Cotter; Tielman Van Vleck; Gillian Belbin; Michael Preuss; Ruth J F Loos; Eimear Kenny; Benjamin S Glicksberg; Noam D Beckmann; Paul O'Reilly; Eric E Schadt; Eric D Achtyes; Peter F Buckley; Douglas Lehrer; Dolores P Malaspina; Steven A McCarroll; Mark H Rapaport; Ayman H Fanous; Michele T Pato; Carlos N Pato; Tim B Bigdeli; Girish N Nadkarni; Alexander W Charney
Journal:  Nat Med       Date:  2021-09-06       Impact factor: 53.440

6.  Gosling: A Grammar-based Toolkit for Scalable and Interactive Genomics Data Visualization.

Authors:  Sehi L'Yi; Qianwen Wang; Fritz Lekschas; Nils Gehlenborg
Journal:  IEEE Trans Vis Comput Graph       Date:  2021-12-30       Impact factor: 4.579

7.  Variation among DNA banking consent forms: points for clinicians to bank on.

Authors:  Samuel J Huang; Laura M Amendola; Darci L Sternen
Journal:  J Community Genet       Date:  2022-07-14

8.  Genetic counseling and testing for Asian Americans: a systematic review.

Authors:  Jennifer L Young; Julie Mak; Talia Stanley; Michelle Bass; Mildred K Cho; Holly K Tabor
Journal:  Genet Med       Date:  2021-05-10       Impact factor: 8.822

9.  Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.

Authors:  Jennifer A Calvo; Briana Fritchman; Desiree Hernandez; Nicole S Persky; Cory M Johannessen; Federica Piccioni; Brian A Kelch; Sharon B Cantor
Journal:  Mol Cancer Res       Date:  2021-02-22       Impact factor: 5.852

Review 10.  Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder.

Authors:  India D Little; Chris Gunter
Journal:  Front Genet       Date:  2021-06-29       Impact factor: 4.599

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