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PMID: 31915397 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Review

A brief history of human disease genetics.

Nature ·Vol. 577 ·No. 7789 ·2020-00-00 ·Pages 179-189

Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI

Abstract

A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition.

MeSH Terms
Animals Genetic Testing Genetic Variation Genomics Genotype Humans Phenotype Rare Diseases/genetics
Authors & Affiliations
18 authors, click to expand affiliations / ORCID
Claussnitzer Melina
Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. | Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA. | Institute of Nutritional Science, University of Hohenheim, Stuttgart, Germany.
Cho Judy H
Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. | Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. | Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Collins Rory
Nuffield Department of Population Health (NDPH), University of Oxford, Oxford, UK. | UK Biobank, Stockport, UK.
Cox Nancy J
Vanderbilt Genetics Institute and Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Dermitzakis Emmanouil T
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. | Health 2030 Genome Center, Geneva, Switzerland.
Hurles Matthew E
Wellcome Sanger Institute, Hinxton, UK.
Kathiresan Sekar
Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA. | Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. | Verve Therapeutics, Cambridge, MA, USA.
Kenny Eimear E
Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. | Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. | Center for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Lindgren Cecilia M
Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA. | Big Data Institute at the Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK. | Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
MacArthur Daniel G
Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA. | Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. | Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
North Kathryn N
Murdoch Children's Research Institute, Parkville, Victoria, Australia. | University of Melbourne, Parkville, Victoria, Australia.
Plon Sharon E
Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. | Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX, USA.
Rehm Heidi L
Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA. | Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. | Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. | Department of Pathology, Harvard Medical School, Boston, MA, USA.
Risch Neil
Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Rotimi Charles N
Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA.
Shendure Jay
Department of Genome Sciences, University of Washington, Seattle, WA, USA. | Brotman Baty Institute for Precision Medicine, Magnuson Health Sciences Building, Seattle, WA, USA. | Howard Hughes Medical Institute, Seattle, WA, USA.
Soranzo Nicole
Wellcome Sanger Institute, Hinxton, UK. | Department of Haematology, University of Cambridge, Cambridge, UK.
McCarthy Mark I
Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK. [email protected]. | Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK. [email protected]. | Oxford NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK. [email protected]. | Human Genetics, Genentech, South San Francisco, CA, USA. [email protected].
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Article Info
Journal
Nature
Abbr.
Nature
ISSN
1476-4687
DOI
10.1038/s41586-019-1879-7
Email
[email protected]
Published
2020-00-00
Epub
2020-00-08
Pages
179-189
Language
English
Region
England
NLM ID
0410462
PMCID
PMC7405896
Subset
IM
Grants
NIDDK NIH HHS · U01 DK085545 · United States
Wellcome Trust · 203141 · United Kingdom
NIDDK NIH HHS · R01 DK098032 · United States
Wellcome Trust · 106130 · United Kingdom
NIDDK NIH HHS · U01 DK062422 · United States
NHLBI NIH HHS · R01 HL104608 · United States
NIDDK NIH HHS · R01 DK106593 · United States
Wellcome Trust · United Kingdom
NHGRI NIH HHS · U01 HG009086 · United States
NICHD NIH HHS · P50 HD028138 · United States
Wellcome Trust · 098381 · United Kingdom
NIMHD NIH HHS · U54 MD010722 · United States
NIDDK NIH HHS · U24 DK062429 · United States
NHGRI NIH HHS · U01 HG009610 · United States
Howard Hughes Medical Institute · United States
NIDDK NIH HHS · R01 DK110113 · United States
NHGRI NIH HHS · U01 HG006485 · United States
NIDDK NIH HHS · U01 DK062429 · United States
NIDDK NIH HHS · U01 DK105535 · United States
NHGRI NIH HHS · U01 HG009080 · United States
Wellcome Trust · 212259 · United Kingdom
NHGRI NIH HHS · U41 HG009649 · United States
Wellcome Trust · 090532 · United Kingdom
NHGRI NIH HHS · R01 HG010297 · United States
NIMH NIH HHS · R01 MH113362 · United States
External Links
PubMed source DOI: 10.1038/s41586-019-1879-7 PMC Full Text View journal details
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