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Providing Comprehensive Genetics in Myeloma: Focus on Linked-Read Whole-Genome Sequencing

By: Sarah Campen, PharmD
Posted: Wednesday, September 14, 2022

Linked-read whole-genome sequencing appears to allow for the detection of aberrations that are key to determining prognosis in multiple myeloma—from a low number of cells without the need for prior DNA purification, according to a study published in Blood Advances. This developing technology could provide more accurate clinical prognostics, facilitate genomic medicine initiatives, and greatly improve the stratification of patients included in clinical trials, explained Robert Månsson, PhD, of the Karolinska Institutet, Stockholm, and colleagues. “[Linked-read whole-genome sequencing] can, with relative ease, identify and resolve the structure of diverse [structural variants], making it an attractive solution for providing comprehensive genetics in multiple myeloma and other hematological malignancies with complex genomes,” they stated.

In this proof-of-principle study, the investigators analyzed fluorescence-activated single-cell–sorted cells from 37 patients with multiple myeloma using linked-read whole-genome sequencing. They found that linked-read whole-genome sequencing produced results very similar to fluorescence in situ hybridization (FISH)—96% of all copy number variations and recurrent translocations were concordantly identified by both methods. Outside of the regions identified by FISH, linked-read whole-genome sequencing discovered more than 150 additional structural variants and copy number variations across the cohort.

Analysis of the linked-read whole-genome sequencing data allowed for resolving the structure of diverse structural variants affecting the MYC and t(11;14) loci causing the duplication of genes and gene regulatory elements. Linked-read whole-genome sequencing also seems to provide accurate and straightforward identification of recurrent IGH and IGL translocations, which would allow for a quick screening of common structural variants in a clinical setting before performing more time-consuming analyses, according to the investigators.

Disclosure: The authors reported no conflicts of interest.

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