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Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing

Eunhee Han, Jaeeun Yoo, Hyojin Chae, Seungok Lee, Do‐Hoon Kim, Kwang-Joong Kim, Yonggoo Kim, Myungshin Kim

2020Clinica Chimica Acta17 citationsDOI

Topics & Concepts

Sanger sequencingMultiplex ligation-dependent probe amplificationIndelBiologyGeneticsINDEL MutationComputational biologyDNA sequencingAmpliconMultiplexGenePolymerase chain reactionGenotypeExonSingle-nucleotide polymorphismBRCA gene mutations in cancerGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases
Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing | Litcius