Article
Mitigating false-positive associations in rare disease gene discovery.
Human mutation - 1 Oct 2015
Akle Sebastian, Chun Sung, Jordan Daniel M, Cassa Christopher A
Abstract excerpt
Clinical sequencing is expanding, but causal variants are still not identified in the majority of cases. These unsolved cases can aid in gene discovery when individuals with similar phenotypes are identified in systems such as the Matchmaker Exchange. We describe risks for gene discovery in this growing set of unsolved cases. In a set of rare disease cases with the same phenotype, it is not difficult to find two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.