A brief history of human disease genetics View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-01-08

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

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. More... »

PAGES

179-189

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  • Journal

    TITLE

    Nature

    ISSUE

    7789

    VOLUME

    577

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41586-019-1879-7

    DOI

    http://dx.doi.org/10.1038/s41586-019-1879-7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1123949206

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/31915397


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