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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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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Accés en línia: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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