A brief history of human disease genetics,Nature

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A brief history of human disease genetics
Nature ( IF 50.5 ) Pub Date : 2020-01-08 , DOI: 10.1038/s41586-019-1879-7
Melina Claussnitzer _{1,

2,

3} , Judy H Cho _{4,

5,

6} , Rory Collins _{7,

8} , Nancy J Cox ₉ , Emmanouil T Dermitzakis _{10,

11} , Matthew E Hurles ₁₂ , Sekar Kathiresan _{2,

13,

14} , Eimear E Kenny _{4,

6,

15} , Cecilia M Lindgren _{2,

16,

17} , Daniel G MacArthur _{2,

13,

18} , Kathryn N North _{19,

20} , Sharon E Plon _{21,

22} , Heidi L Rehm _{2,

13,

18,

23} , Neil Risch ₂₄ , Charles N Rotimi ₂₅ , Jay Shendure _{26,

27,

28} , Nicole Soranzo _{12,

29} , Mark I McCarthy _{17,

30,

31,

32}

Affiliation

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.
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.
Nuffield Department of Population Health (NDPH), University of Oxford, Oxford, UK.
UK Biobank, Stockport, UK.
Vanderbilt Genetics Institute and Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Health 2030 Genome Center, Geneva, Switzerland.
Wellcome Sanger Institute, Hinxton, UK.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Verve Therapeutics, Cambridge, MA, USA.
Center for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, 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.
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
University of Melbourne, Parkville, Victoria, Australia.
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.
Department of Pathology, Harvard Medical School, Boston, MA, USA.
Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA.
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.
Department of Haematology, University of Cambridge, Cambridge, UK.
Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK.
Oxford NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.
Human Genetics, Genentech, South San Francisco, CA, USA.

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. This Review describes progress in the study of human genetics, in which rapid advances in technology, foundational genomic resources and analytical tools have contributed to the understanding of the mechanisms responsible for many rare and common diseases and to preventative and therapeutic strategies for many of these conditions.

中文翻译：

人类疾病遗传学简史

人类遗传学的一个主要目标是识别影响生物医学特征的 DNA 序列变异，特别是那些与人类疾病的发生和进展相关的特征。在过去的 25 年里，技术、基础基因组资源和分析工具的进步以及大量基因型和表型数据的获取改变了实现这一目标的进展。基因发现极大地提高了我们对许多罕见和常见疾病的机制的理解，并推动了新型预防和治疗策略的发展。医疗创新将越来越注重提供针对个体遗传倾向模式的护理。这篇综述描述了人类遗传学研究的进展，其中技术、基础基因组资源和分析工具的快速进步有助于理解许多罕见和常见疾病的机制，以及许多这些疾病的预防和治疗策略。

更新日期：2020-01-08

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