Article
Point mutations as a source of de novo genetic disease.
Current opinion in genetics & development - 1 Jun 2013
de Ligt Joep, Veltman Joris A, Vissers Lisenka E L M
Abstract excerpt
Family-based next generation sequencing (NGS) has recently pointed to an important role for de novo germline point mutations in both rare and common genetic disorders associated with reduced fitness. In this review we highlight the impact of the mutational target size on the frequency of diseases caused by these de novo point mutations. In addition, we will discuss the human per-generation mutation rate, its...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.