How the human genome transformed study of rare diseases

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. An improved understanding of Mendelian diseases over two decades.
Author(s): Fowzan S. Alkuraya Author Affiliations: How the human genome transformed study of rare diseases When the first draft of the human genome was published[sup.1] [sup.,] [sup.2] , it was [...]