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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Gepubliceerd in:Cancers (Basel)
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2021
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Article
Online toegang: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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