Fine-scale structural variation of the human genome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-05-15

AUTHORS

Eray Tuzun, Andrew J Sharp, Jeffrey A Bailey, Rajinder Kaul, V Anne Morrison, Lisa M Pertz, Eric Haugen, Hillary Hayden, Donna Albertson, Daniel Pinkel, Maynard V Olson, Evan E Eichler

ABSTRACT

Inversions, deletions and insertions are important mediators of disease and disease susceptibility1. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. These data provide a fine-scale structural variation map of the human genome and the requisite sequence precision for subsequent genetic studies of human disease. More... »

PAGES

727-732

Journal

TITLE

Nature Genetics

ISSUE

7

VOLUME

37

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1562

    DOI

    http://dx.doi.org/10.1038/ng1562

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1014017119

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/15895083


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