Point mutations as a source of de novo genetic disease

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 ca...

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Bibliographic Details
Published inCurrent opinion in genetics & development Vol. 23; no. 3; pp. 257 - 263
Main Authors de Ligt, Joep, Veltman, Joris A, Vissers, Lisenka ELM
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.06.2013
Subjects
Genetic Diseases, Inborn - etiology
Genetic Diseases, Inborn - pathology
Genome, Human
Germ-Line Mutation - genetics
High-Throughput Nucleotide Sequencing
Humans
Medical Education
Phenotype
Point Mutation - genetics
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Summary: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.
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ISSN:0959-437X
1879-0380
DOI:10.1016/j.gde.2013.01.007