Copy number variation in the genome; the human DMD gene as an example.

doi:10.1159/000095920

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Article

Copy number variation in the genome; the human DMD gene as an example.

Cytogenetic and genome research - 1 Jan 2006

White S J, den Dunnen J T

Abstract excerpt

Recent developments have yielded new technologies that have greatly simplified the detection of deletions and duplications, i.e., copy number variants (CNVs). These technologies can be used to screen for CNVs in and around specific genomic regions, as well as genome-wide. Several genome-wide studies have demonstrated that CNV in the human genome is widespread and may include millions of nucleotides. One of the...

Topics

Alleles
Dystrophin
Exons
Gene Deletion
Gene Duplication
Genetic Variation
Genome, Human
Genomics
Humans
Muscular Dystrophy, Duchenne
Mutation

Source

Open in PubMed

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PMID: 17124406
DOI: 10.1159/000095920

Genes

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