Literature DB >> 29151588

Prioritizing diversity in human genomics research.

Lucia A Hindorff1, Vence L Bonham1, Lawrence C Brody1, Margaret E C Ginoza1, Carolyn M Hutter1, Teri A Manolio1, Eric D Green1.   

Abstract

Recent studies have highlighted the imperatives of including diverse and under-represented individuals in human genomics research and the striking gaps in attaining that inclusion. With its multidecade experience in supporting research and policy efforts in human genomics, the National Human Genome Research Institute is committed to establishing foundational approaches to study the role of genomic variation in health and disease that include diverse populations. Large-scale efforts to understand biology and health have yielded key scientific findings, lessons and recommendations on how to increase diversity in genomic research studies and the genomic research workforce. Increased attention to diversity will increase the accuracy, utility and acceptability of using genomic information for clinical care.

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Year:  2017        PMID: 29151588      PMCID: PMC6532668          DOI: 10.1038/nrg.2017.89

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  73 in total

1.  Merging and emerging cohorts: necessary but not sufficient.

Authors:  Francis S Collins; Teri A Manolio
Journal:  Nature       Date:  2007-01-18       Impact factor: 49.962

2.  Genomics for the world.

Authors:  Carlos D Bustamante; Esteban González Burchard; Francisco M De la Vega
Journal:  Nature       Date:  2011-07-13       Impact factor: 49.962

Review 3.  Accounting for ancestry: population substructure and genome-wide association studies.

Authors:  Chao Tian; Peter K Gregersen; Michael F Seldin
Journal:  Hum Mol Genet       Date:  2008-10-15       Impact factor: 6.150

4.  Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

Authors:  Jonathan Cohen; Alexander Pertsemlidis; Ingrid K Kotowski; Randall Graham; Christine Kim Garcia; Helen H Hobbs
Journal:  Nat Genet       Date:  2005-01-16       Impact factor: 38.330

5.  Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Authors:  Yambazi Banda; Mark N Kvale; Thomas J Hoffmann; Stephanie E Hesselson; Dilrini Ranatunga; Hua Tang; Chiara Sabatti; Lisa A Croen; Brad P Dispensa; Mary Henderson; Carlos Iribarren; Eric Jorgenson; Lawrence H Kushi; Dana Ludwig; Diane Olberg; Charles P Quesenberry; Sarah Rowell; Marianne Sadler; Lori C Sakoda; Stanley Sciortino; Ling Shen; David Smethurst; Carol P Somkin; Stephen K Van Den Eeden; Lawrence Walter; Rachel A Whitmer; Pui-Yan Kwok; Catherine Schaefer; Neil Risch
Journal:  Genetics       Date:  2015-06-19       Impact factor: 4.562

6.  The study is open: Participants are now recruiting investigators.

Authors:  Sharon F Terry
Journal:  Sci Transl Med       Date:  2017-01-04       Impact factor: 17.956

Review 7.  Diversity in the biomedical research workforce: developing talent.

Authors:  Richard McGee; Suman Saran; Terry A Krulwich
Journal:  Mt Sinai J Med       Date:  2012 May-Jun

8.  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

Review 9.  Exploring pathways to trust: a tribal perspective on data sharing.

Authors:  Rosalina James; Rebecca Tsosie; Puneet Sahota; Myra Parker; Denise Dillard; Ileen Sylvester; John Lewis; Joseph Klejka; LeeAnna Muzquiz; Polly Olsen; Ron Whitener; Wylie Burke
Journal:  Genet Med       Date:  2014-05-15       Impact factor: 8.822

10.  Genome science and health disparities: a growing success story?

Authors:  Charles Rotimi; Daniel Shriner; Adebowale Adeyemo
Journal:  Genome Med       Date:  2013-07-29       Impact factor: 11.117

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  133 in total

1.  Pathways Between a Polygenic Score for Educational Attainment and Higher Educational Attainment in an African American Sample.

Authors:  Jill A Rabinowitz; Sally I-Chun Kuo; Benjamin Domingue; Mieka Smart; William Felder; Kelly Benke; Brion S Maher; Nicholas S Ialongo; George Uhl
Journal:  Behav Genet       Date:  2019-11-23       Impact factor: 2.805

Review 2.  Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications.

Authors:  Krishna G Aragam; Pradeep Natarajan
Journal:  Circ Res       Date:  2020-04-23       Impact factor: 17.367

3.  Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid.

Authors:  Kanagaraj Subramanian; Darren M Hutt; Samantha M Scott; Vijay Gupta; Shu Mao; William E Balch
Journal:  J Biol Chem       Date:  2020-04-30       Impact factor: 5.157

4.  A Global Collaborative to Advance Genomic Medicine.

Authors:  Geoffrey S Ginsburg
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

5.  Diversity in the Era of Precision Medicine - From Bench to Bedside Implementation.

Authors:  Abdullah Mamun; Nana Y Nsiah; Meenakshi Srinivasan; Ayyappa Chaturvedula; Riyaz Basha; Deanna Cross; Harlan P Jones; Karabi Nandy; Jamboor K Vishwanatha
Journal:  Ethn Dis       Date:  2019-07-18       Impact factor: 1.847

6.  Defining and Achieving Health Equity in Genomic Medicine.

Authors:  Sonya Jooma; Michael J Hahn; Lucia A Hindorff; Vence L Bonham
Journal:  Ethn Dis       Date:  2019-02-21       Impact factor: 1.847

Review 7.  Evaluating the promise of inclusion of African ancestry populations in genomics.

Authors:  Amy R Bentley; Shawneequa L Callier; Charles N Rotimi
Journal:  NPJ Genom Med       Date:  2020-02-25       Impact factor: 8.617

Review 8.  Genetic-Driven Druggable Target Identification and Validation.

Authors:  Matteo Floris; Stefania Olla; David Schlessinger; Francesco Cucca
Journal:  Trends Genet       Date:  2018-05-23       Impact factor: 11.639

Review 9.  Disease-Associated Genetic Variation in Human Mitochondrial Protein Import.

Authors:  Emmanuelle Nicolas; Rossella Tricarico; Michelle Savage; Erica A Golemis; Michael J Hall
Journal:  Am J Hum Genet       Date:  2019-05-02       Impact factor: 11.025

10.  Using the Data We Have: Improving Diversity in Genomic Research.

Authors:  Teri A Manolio
Journal:  Am J Hum Genet       Date:  2019-08-01       Impact factor: 11.025

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