Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5893702 | Current Opinion in Genetics & Development | 2013 | 7 Pages |
Abstract
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 relation to advanced paternal age and how these factors affect the frequency of genetic disease caused by de novo events.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Developmental Biology
Authors
Joep de Ligt, Joris A Veltman, Lisenka ELM Vissers,