Description

Smoldering multiple myeloma (SMM) is an asymptomatic plasma cell disorder. It is associated with a high-risk of progression to multiple myeloma (MM). For this study, they performed targeted sequencing on 82 patients. The results showed fewer NRAS and FAM46C mutations with SMM, which is consistent with their role as drivers of the transition to MM. They also analyzed the change in clonal structure over time, where they examined 53 samples from nine patients at multiple time points.

This study includes whole exome sequencing and targeted panel data. The publication also contains supplementary data, which includes several tables. The tables contain data about incidence of copy number changes in SMM and MM based on copy number estimates from the targeted panel, summary of sample sequencing metrics, list of genes on the targeted panel, metrics of sequential samples, ddPCR primer and probe sequences, and list of loci included in the plot comparing SMM and MM copy number changes.

Subject of Study
Subject Domain
Population Age
Adult (19 years - 64 years)
Senior (65 years - 79 years)
Aged (80 years and over)
Keywords

Access

Restrictions
Free to All
Author Approval Required
Instructions
The targeted panel data and whole exome sequencing are deposited in the EGA database. These data are available under restricted access and access can be obtained by contacting Gareth Morgan via the EGA database. The remaining data are available within the article in the Supplementary Materials.
Access via EGA

Targeted panel data
Accession #: EGAD00001005056

Access via EGA

Whole exome sequencing
Accession #: EGAD00001005285

Associated Publications
Data Type
Equipment Used
AutoMACS Pro Separator
Illumina NextSeq 500
QX200 Droplet Reader
RoboSep
Software Used
BWA v0.7.12
Control-FREEC v3.0.0
FPfilter
Manta v0.29.6
NMF
QuantaSoft v1.7.4
Sequenza v3.0.0
Strelka v1.0.14
Variant Effect Predictor v85
Study Type
Observational
Grant Support
Multiple Myeloma Research Foundation/Multiple Myeloma Research Foundation
Perelman Family Foundation/Perelman Family Foundation
6020- 20/Leukemia & Lymphoma Society
Federation Francaise de Recherche sur le Myelome et les Gammapathies/Fondation de France