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
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