Genetic landscape of SMM
UID: 10783
Publisher(s): UAMS (University of Arkansas for Medical Sciences) Myeloma Center- Description
- Dataset Description from EGA: "Identifying high risk smoldering myeloma patients and progression mechanism is a prerequisite to implement effective inception strategies and curve myeloma related morbidity and mortality. We hypothesize that genomics may help identify determinants of progression that may help predict outcome and offer effective chemo preventive targets.
Eighty-two patients underwent a custom targeted panel sequencing with an additional capture for the translocation loci. These results were compared to 223 newly diagnosed patients (EGAS00001003223 and EGAD00001004117) and 17 MGUS and 10 early myeloma patients. DNA was obtained from either CD138+ cells from the bone marrow of multiple myeloma patients (tumor) or from stem cell harvests or peripheral blood cells from the same patient (control). 100 ng of DNA was fragmented, end-repaired, and adapters ligated using the HyperPlus kit (KAPA Biosystems). After PCR amplification the libraries were hybridized with probes against either a targeted panel consisting of 140 genes and chromosomal regions (Nimblegen) using SeqCap reagents (Nimblegen). Hybridized libraries underwent further amplification before being sequenced on a NextSeq500 (Illumina) using 75 bp paired end reads.
Overall, these data highlight the importance of dysregulation of the MAPK pathway in the progression to MM. "
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Access via EGA
241 Samples from myeloma patients
Accession #: EGAD00001005285 - Access Restrictions
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Application Required
- Access Instructions
- The European Genome-Phenome Archive (EGA) provides a service for the permanent archiving and distribution of personally identifiable genetic and phenotypic data resulting from biomedical research projects. Data at EGA was collected from individuals whose consent agreements authorise data release only for specific research use to bona fide researchers. Strict protocols govern how information is managed, stored and distributed by the EGA project.
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- Data Type
- Equipment Used
- Dataset Format(s)
- BAM
- Data Tool(s)
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WXS
- Dataset Size
- 960.31 GB
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