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

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

The identification of germline copy number variants (CNVs) by targeted next-generation sequencing (NGS) frequently relies on in silico CNV prediction tools with unknown sensitivities. We investigated the performances of four in silico CNV prediction tools, including one commercial (Sophia Genetics D...

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Bibliographic Details
Main Authors: Louisa Lepkes, Mohamad Kayali, Britta Blümcke, Jonas Weber, Malwina Suszynska, Sandra Schmidt, Julika Borde, Katarzyna Klonowska, Barbara Wappenschmidt, Jan Hauke, Piotr Kozlowski, Rita K. Schmutzler, Eric Hahnen, Corinna Ernst
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Cancers
Subjects:
breast/ovarian cancer susceptibility genes
HBOC
CNV
multigene panel sequencing
Online Access:https://www.mdpi.com/2072-6694/13/1/118

Internet

https://www.mdpi.com/2072-6694/13/1/118

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