Genomic characterisation of MGUS
UID: 10658
- Description
- Dataset Description from EGA: "The hematological malignancy multiple myeloma (MM), also called Kahler's disease or plasma cell (PC) myeloma, is characterized by a clonal expansion of PCs originating in the bone marrow (BM). The expansion of these cells leads to an overproduction of antibodies and results in typical symptoms such as anemia, renal failure and bone lesions. All cases of MM are preceded by the asymptomatic, non-malignant pre-stage monoclonal gammopathy of undetermined significance (MGUS). Of all MGUS patients, only 1% per year will progress to MM. Despite efforts to elucidate the molecular mechanisms underlying the MGUS-to-MM progression, its pathogenesis still remains largely unknown. Additionally, the genetic profiles of MGUS patients have only been limitedly investigated due to the only incidental finding of MGUS, the difficulties in BM sampling and isolating a sufficient number of aberrant PCs from the BM aspirates of MGUS patients. Consequently, reliable biomarkers to individually predict which MGUS patients will progress to MM and which will not, are lacking. Therefore, it is highly required to study the molecular pathogenesis of MGUS and the role of genetic events in relation to the malignant transformation to MM. "
There are 42 samples.
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Access via EGA
CRAM files of whole genome sequencing
Accession #: EGAD00001006363 - Access Restrictions
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Application Required
- Access Instructions
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Studies associated with the dataset are listed and linked by accession numbers at the bottom of the page. - Associated Publications
- Data Type
- Dataset Format(s)
- CRAM
- Data Tool(s)
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WGS
- Dataset Size
- 1.8 TB
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