Comprehensive detection of recurring genomic abnormalities: a targeted sequencing approach for multiple myeloma.

ABSTRACT: Recent genomic research efforts in multiple myeloma have revealed clinically relevant molecular subgroups beyond conventional cytogenetic classifications. Implementing these advances in clinical trial design and in routine patient care requires a new generation of molecular diagnostic tools. Here, we present a custom capture next-generation sequencing (NGS) panel designed to identify rearrangements involving the IGH locus, arm level, and focal copy number aberrations, as well as frequently mutated genes in multiple myeloma in a single assay. We sequenced 154 patients with plasma cell disorders and performed a head-to-head comparison with the results from conventional clinical assays, i.e., fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarray. Our cus

SUBMITTER: Yellapantula V 

PROVIDER: S-EPMC6906304 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature