How the human genome transformed study of rare diseases

Fowzan S. Alkuraya ()

Nature, 2021, vol. 590, issue 7845, 218-219

Abstract: Mendelian diseases are caused by mutations in a single gene. The first draft of the human genome, published in 2001, had broad implications for how these diseases are diagnosed, managed and prevented.

Keywords: Genetics; Genomics; Medical research; History (search for similar items in EconPapers)
Date: 2021
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DOI: 10.1038/d41586-021-00294-7

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