Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2
作者： Tú Nguyen-Dumont , Zhi L Teo , Bernard J Pope , Fleur Hammet , Maryam Mahmoodi
关键词: Molecular diagnostics 、 Breast cancer 、 Ion semiconductor sequencing 、 Mutation (genetic algorithm) 、 Genetics 、 Massive parallel sequencing 、 PALB2 、 Biology 、 Human genetics 、 DNA microarray
摘要: Background Massively parallel sequencing (MPS) has revolutionised biomedical research and offers enormous capacity for clinical application. We previously reported Hi-Plex, a streamlined highly-multiplexed PCR-MPS approach, allowing given library to be sequenced with both the Ion Torrent TruSeq chemistries. Comparable efficiency was achieved using material derived from lymphoblastoid cell lines formalin-fixed paraffin-embedded tumour.
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