Myeloma Genome Project Panel is a Comprehensive Targeted Genomics Panel for Molecular Profiling of Patients with Multiple Myeloma.

ABSTRACT:

Purpose

We designed a comprehensive multiple myeloma targeted sequencing panel to identify common genomic abnormalities in a single assay and validated it against known standards.

Experimental design

The panel comprised 228 genes/exons for mutations, 6 regions for translocations, and 56 regions for copy number abnormalities (CNA). Toward panel validation, targeted sequencing was conducted on 233 patient samples and further validated using clinical FISH (translocations), multiplex ligation probe analysis (MLPA; CNAs), whole-genome sequencing (WGS; CNAs, mutations, translocations), or droplet digital PCR (ddPCR) of known standards (mutations).

Results

Canonical immunoglobulin heavy chain translocations were detected in 43.2% of patients by sequencing, and aligned with F

SUBMITTER: Sudha P 

PROVIDER: S-EPMC9250632 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature