Article
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
Human mutation - 1 Jun 2010
Cooper David N, Chen Jian-Min, Ball Edward V, Howells Katy, Mort Matthew, Phillips Andrew D, Chuzhanova Nadia, Krawczak Michael, Kehrer-Sawatzki Hildegard, Stenson Peter D
Abstract excerpt
The number of reported germline mutations in human nuclear genes, either underlying or associated with inherited disease, has now exceeded 100,000 in more than 3,700 different genes. The availability of these data has both revolutionized the study of the morbid anatomy of the human genome and facilitated "personalized genomics." With approximately 300 new "inherited disease genes" (and approximately 10,000 new...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.