Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

In the Human Gene Mutation Database (www.hgmd.org), microdeletions and microinsertions causing inherited disease (both defined as involving ≤20 bp of DNA) account for 8,399 (17%) and 3,345 (7%) logged mutations, in 940 and 668 genes, respectively. A positive correlation was noted between the microde...

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Veröffentlicht in:	Human mutation 2005-09, Vol.26 (3), p.205-213
Hauptverfasser:	Ball, Edward V., Stenson, Peter D., Abeysinghe, Shaun S., Krawczak, Michael, Cooper, David N., Chuzhanova, Nadia A.
Format:	Artikel
Sprache:	eng
Schlagworte:	complexity analysis Computational Biology - methods Databases, Genetic DNA polymerase DNA-Directed DNA Polymerase - genetics Gene Deletion Genes Genetic Diseases, Inborn - genetics Genetic disorders Genetic Variation Humans inherited disease meta-analysis microdeletion microinsertion Mutagenesis Mutation mutation hotspots Repetitive Sequences, Nucleic Acid Sequence Analysis, DNA - methods
Online-Zugang:	Volltext
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