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

PURPOSE: 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. METHODS: Array comparative genomic hybridization, a...

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Detalhes bibliográficos
Main Authors: Boone, Philip M., Soens, Zachry T., Campbell, Ian M., Stankiewicz, Pawel, Cheung, Sau Wai, Patel, Ankita, Beaudet, Arthur L., Plon, Sharon E., Shaw, Chad A., McGuire, Amy L., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3705759/
https://ncbi.nlm.nih.gov/pubmed/22878507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.95
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