Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example.
作者： Sylvia De Brakeleer , Jacques De Grève , Willy Lissens , Erik Teugels
DOI: 10.1002/HUMU.22297
关键词:
摘要: Pathogenic Alu element insertions are rarely reported, whereas their occurrence is expected to be much higher. containing alleles usually out-competed during the PCR process and consequently undetectable with classical screening methods. However, introduction of next generation sequencing (NGS) technology in diagnostic field, new opportunities emerging. NGS data for a particular genomic region can seen as summation all individual sequences (reads) obtained that no longer mean this sum it case traditional Sanger sequencing. Because each single read covering generated from different template molecule, presence one mutant must theoretically sufficient identify mutation. identification reads bearing remains challenging several wet/dry bench parameters need optimized. Hereby we present proof principle NGS-based mutation procedure allowing detection inherited within any predefined sequence by investigating 2 cases: c.1739_1740insAlu BRCA1 c.156_157insAlu BRCA2.
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