Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

ABSTRACT: We report a customized gene panel assay based on multiplex long-PCR followed by third generation sequencing on nanopore technology (MinION), designed to analyze five frequently mutated genes in chronic lymphocytic leukemia (CLL): TP53, NOTCH1, BIRC3, SF3B1 and MYD88. For this purpose, 12 patients were selected according to specific cytogenetic and molecular features significantly associated with their mutational status. In addition, simultaneous analysis of the targets genes was performed by molecular assays or Sanger Sequencing. Data analysis included mapping to the GRCh37 human reference genome, variant calling and annotation, and average sequencing depth/error rate analysis. The sequencing depth resulted on average higher for smaller amplicons, and the final breadth of coverage of the p

SUBMITTER: Orsini P 

PROVIDER: S-EPMC6081477 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature