Point mutations as a source of de novo genetic disease.

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.

journal_name

Curr Opin Genet Dev

authors

de Ligt J,Veltman JA,Vissers LE

doi

10.1016/j.gde.2013.01.007

subject

Has Abstract

pub_date

2013-06-01 00:00:00

pages

257-63

issue

3

eissn

0959-437X

issn

1879-0380

pii

S0959-437X(13)00017-8

journal_volume

23

pub_type

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