Structural variation in the human genome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-02

AUTHORS

Lars Feuk, Andrew R. Carson, Stephen W. Scherer

ABSTRACT

The first wave of information from the analysis of the human genome revealed SNPs to be the main source of genetic and phenotypic human variation. However, the advent of genome-scanning technologies has now uncovered an unexpectedly large extent of what we term 'structural variation' in the human genome. This comprises microscopic and, more commonly, submicroscopic variants, which include deletions, duplications and large-scale copy-number variants - collectively termed copy-number variants or copy-number polymorphisms - as well as insertions, inversions and translocations. Rapidly accumulating evidence indicates that structural variants can comprise millions of nucleotides of heterogeneity within every genome, and are likely to make an important contribution to human diversity and disease susceptibility. More... »

PAGES

85-97

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nrg1767

DOI

http://dx.doi.org/10.1038/nrg1767

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1033454038

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16418744


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