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Study Description

This project was designed to describe genetic abnormalities in primary samples from patients with multiple myeloma by next generation sequencing.

We generated sequence data from multiple myeloma (MM) patients analyzing DNA both from tumor cells (purified from bone marrow using CD138 selection as a marker of plasma cells) and from normal peripheral blood cells (either whole blood or Ficoll-purified mononuclear cells). Using massively parallel sequencing technology (Illumina GA-2 or HiSeq)), we performed whole-genome sequencing (WGS) and/or whole-exome sequencing (WES). The initial set currently deposited contains data from 38 MM patients (23 patients surveyed by WGS and 16 patients by WES, with one patient analyzed by both approaches).

Genomes were sampled to high depth, obtaining an average of 33X coverage and 104X coverage for WGS and WES tumors, respectively. The normal samples had similar coverage. Our goal is to help researchers understand the complex genetic landscape of multiple myeloma and provide a resource for the generation of biological hypotheses.

  • Study Weblink: MMRF
  • Study Types: Tumor, Cohort
  • Number of study subjects that have individual level data available through Authorized Access: 38

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

The sequencing data deposited are the results of an ongoing collaborative effort between The Broad Institute and the Multiple Myeloma Research Consortium (MMRC) to uncover the molecular changes underlying multiple myeloma (MM) by genome sequencing of individual patient tumors.

Only samples appropriately consented for this study were used.

High quality DNA from myeloma frozen pellets with > 90% CD138+ cells after immunomagnetic enrichment were utilized for the sequencing effort.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina Genome Analyzer IIX N/A N/A
Whole Exome Sequencing Agilent SureSelect N/A N/A
Study History

Selected publications
Diseases/Traits Related to Study (MESH terms)
Authorized Data Access Requests
Study Attribution

  • Principal Investigator
    • Todd Golub. Broad Institute of MIT and Harvard Dana Farber Cancer Institute, Boston, MA, USA
  • Funding Source
    • Multiple Myeloma Research Foundation, Norwalk, CT, USA

Acknowledgement Statement: Please cite/reference the use of dbGaP data by including the dbGaP accession phs000348.v1.p1. Additionally, use the following statement to acknowledge the submitter(s) of this study:

Funding support for the 'Towards a Genomic Understanding of Myeloma' project was provided by the Multiple Myeloma Research Foundation in collaboration with the Multiple Myeloma Research Consortium. Assistance with data generation, processing and analysis was provided by the Broad Institute Genome Sequencing, Genetic Analysis, and Biological Samples Platforms. The datasets used for the analyses described in this manuscript were obtained from dbGaP at through dbGaP accession number phs000348.v1.p1.