A MALDI-TOF mass spectrometry-based method for detection of copy number variations in BRCA1 and BRCA2 genes

A MALDI-TOF mass spectrometry-based method for detection of copy number variations in BRCA1 and BRCA2 genes

Background: Identifying germline mutations in BRCA1 and BRCA2 genes (BRCAs) would benefit the carriers in multiple aspects. In addition to single-nucleotide variations and small indels, copy number variations (CNVs) is also an indispensable component of identifiable mutations in BRCAs. A sensitive,...

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Bibliographic Details
Main Authors: Hongjun Zhou, Xin He, Jiadong Zhao, Zhu Mei, Xiayan Zhang, Wen Yuan, Hui Dong
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Molecular Biosciences
Subjects:
MALDI-TOF mass spectrometry
targeted sequencing
copy number variation
BRCA1
BRCA2
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1301652/full

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