A MALDI-TOF mass spectrometry-based method for detection of copy number variations in BRCA1 and BRCA2 genes
Hongjun Zhou,
Xin He,
Jiadong Zhao
et al.
Abstract: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, rapid and throughput-flexible method to detect CNVs would be preferred to meet the rising clinical requirements for BRCAs testing.Methods: We developed a MALDI-TOF-MS-based method (MS assay) which included three ste… Show more
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