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Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer

SIMPLE SUMMARY: The identification of germline copy number variants (CNVs) by targeted nextgeneration sequencing frequently relies on in silico prediction tools with unknown sensitivities. We investigated the performances of four in silico CNV prediction tools in 17 cancer predisposition genes in a...

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Detalhes bibliográficos
Publicado no:Cancers (Basel)
Main Authors: Lepkes, Louisa, Kayali, Mohamad, Blümcke, Britta, Weber, Jonas, Suszynska, Malwina, Schmidt, Sandra, Borde, Julika, Klonowska, Katarzyna, Wappenschmidt, Barbara, Hauke, Jan, Kozlowski, Piotr, Schmutzler, Rita K., Hahnen, Eric, Ernst, Corinna
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7794674/
https://ncbi.nlm.nih.gov/pubmed/33401422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cancers13010118
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