Whole genome sequencing is a specialized function requiring expertise, special instruments and facilities along with informatics capabilities. This function cannot be performed in individual laboratories. Whole genome sequencing is also evolving rapidly and constantly improving the read capabilities, number of samples per run and informatics capabilities. There is only limited number of facilities available worldwide with such capabilities. Welcome Trust Sanger Institute (WTSI) is a leader in sequencing the human genome, contributing one third of all the sequences and has made numerous contributions to other large genomes, Idad efforts to sequence pathogens and disease vectors and mouse Rl strain genomes. WTSI is committed to continually appraising new sequencing technologies, using in-house testing wherever possible, and will use whatever future technology is most suitable and cost-effective for the applications demanded by the science pursued at the Institute. The purpose of Core D is to provide for comprehensive genomic sequence analyses by utilizing a state of the art 'next generation' sequencing platform for both the sequencing of all coding exons/miRNA genes and the identification and characterization of genome-wide rearrangements at base-pair resolution in samples detailed in Projects 1 and 2. To meet these goals, in Core D we will pursue the following specific aims: to generate comprehensive somatic mutation data for all coding exons and miRNA genes from selected samples from patients progressing from monoclonal gammopathy of underemined significance (MGUS) smoldering multiple myeloma (SMM) to active multiple myeloma (MM) or MM evolution from diagnosis to relapse (Specific Aim 1); and to generate a genome-wide rean^angement data at base-pair resolution from selected samples to explore genomic changes during MM evolution from diagnosis to relapse (Specific Aim 2). Further, the core will provide bioinformatics expertise in the management and analysis of data produced within the core to support the projects.

Public Health Relevance

The core will perform high output whole genome sequencing, uniformly analyze clinical sample both to investigate for genomic and transcriptomic changes in MGUS vs MM and correlate changes in MM with various clinical groups.

National Institute of Health (NIH)
National Cancer Institute (NCI)
Research Program Projects (P01)
Project #
Application #
Study Section
Special Emphasis Panel (ZCA1-RPRB-J (O1))
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Dana-Farber Cancer Institute
United States
Zip Code
Zeid, Rhamy; Lawlor, Matthew A; Poon, Evon et al. (2018) Enhancer invasion shapes MYCN-dependent transcriptional amplification in neuroblastoma. Nat Genet 50:515-523
Maura, F; Petljak, M; Lionetti, M et al. (2018) Biological and prognostic impact of APOBEC-induced mutations in the spectrum of plasma cell dyscrasias and multiple myeloma cell lines. Leukemia 32:1044-1048
Bae, J; Hideshima, T; Zhang, G L et al. (2018) Identification and characterization of HLA-A24-specific XBP1, CD138 (Syndecan-1) and CS1 (SLAMF7) peptides inducing antigens-specific memory cytotoxic T lymphocytes targeting multiple myeloma. Leukemia 32:752-764
O'Donnell, Elizabeth K; Laubach, Jacob P; Yee, Andrew J et al. (2018) A phase 2 study of modified lenalidomide, bortezomib and dexamethasone in transplant-ineligible multiple myeloma. Br J Haematol 182:222-230
Guo, Guangwu; Raje, Noopur S; Seifer, Charles et al. (2018) Genomic discovery and clonal tracking in multiple myeloma by cell-free DNA sequencing. Leukemia 32:1838-1841
Szalat, R; Samur, M K; Fulciniti, M et al. (2018) Nucleotide excision repair is a potential therapeutic target in multiple myeloma. Leukemia 32:111-119
Nair, Shiny; Sng, Joel; Boddupalli, Chandra Sekhar et al. (2018) Antigen-mediated regulation in monoclonal gammopathies and myeloma. JCI Insight 3:
Gullà, A; Hideshima, T; Bianchi, G et al. (2018) Protein arginine methyltransferase 5 has prognostic relevance and is a druggable target in multiple myeloma. Leukemia 32:996-1002
Mazzotti, Céline; Buisson, Laure; Maheo, Sabrina et al. (2018) Myeloma MRD by deep sequencing from circulating tumor DNA does not correlate with results obtained in the bone marrow. Blood Adv 2:2811-2813
Miannay, Bertrand; Minvielle, Stéphane; Magrangeas, Florence et al. (2018) Constraints on signaling network logic reveal functional subgraphs on Multiple Myeloma OMIC data. BMC Syst Biol 12:32

Showing the most recent 10 out of 218 publications