Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: The BRCA1/BRCA2 Example

Human Mutation

Volumn 34, Issue 5, 2013, Pages 785-791

  De Brakeleer, Sylvia ^a   De Grève, Jacques ^a   Lissens, Willy ^a   Teugels, Erik ^a  

^a VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

Author keywords

Alu insertion; BRCA1; BRCA2; Mutation screen; NGS

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ALU SEQUENCE; ARTICLE; CANCER DIAGNOSIS; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; PATHOGENESIS; PRIORITY JOURNAL;

BASE SEQUENCE; GENES, BRCA1; GENES, BRCA2; HUMANS; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SOFTWARE;

EID: 84876304580     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22297     Document Type: Article

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