Incidental copy-number variants identified by routine genome testing in a clinical population | Zendy

Philip M. Boone | Zendy; Zachry T. Soens | Zendy; Ian M. Campbell | Zendy; Paweł Stankiewicz | Zendy; Sau Wai Cheung | Zendy; Ankita Patel | Zendy; Arthur L. Beaudet | Zendy; Sharon E. Plon | Zendy; Chad A. Shaw | Zendy; Amy L. McGuire | Zendy; James R. Lupski | Zendy

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Incidental copy-number variants identified by routine genome testing in a clinical population

Author(s) -

Philip M. Boone,

Zachry T. Soens,

Ian M. Campbell,

Paweł Stankiewicz,

Sau Wai Cheung,

Ankita Patel,

Arthur L. Beaudet,

Sharon E. Plon,

Chad A. Shaw,

Amy L. McGuire,

James R. Lupski

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2012.95

Subject(s) - copy number variation , genetics , copy number analysis , biology , comparative genomic hybridization , gene , human genome , population , genome , disease , medicine , pathology , environmental health

Mutational load of susceptibility variants has not been studied on a genomic scale in a clinical population, nor has the potential to identify these mutations as incidental findings during clinical testing been systematically ascertained.

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