Open AccessValidation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project
Author(s) -
Lomas Oliver C.,
Gooding Sarah,
Cabes Maite,
Dreau Helene,
Wilson Edward,
Polzella Paolo,
Ramasamy Karthik,
Hamblin Angela D.
Publication year - 2021
Publication title -
ejhaem
Language(s) - English
Resource type - Journals
ISSN - 2688-6146
DOI - 10.1002/jha2.276
Subject(s) - whole genome sequencing , genome , multiple myeloma , dna sequencing , computational biology , fish <actinopterygii> , copy number variation , biology , bioinformatics , medicine , genetics , gene , fishery
Multiple myeloma is characterized by chromosomal abnormalities and genetic variation, which may inform prognosis and guide treatment. This pilot study sought to examine the feasibility of incorporating Whole Genome Sequencing (WGS) alongside the routine laboratory evaluation of 14 patients with newly diagnosed multiple myeloma who had enrolled in the 100,000 Genomes Project. In all 14 cases, WGS data could be obtained in a timely fashion within existing clinical frameworks in a tertiary hospital setting. The data not only replicated standard‐of‐care FISH analysis of chromosomal abnormalities but also provided further chromosomal and molecular genetic insights that may influence patient management.