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ID

45183

Beschreibung

Principal Investigator: Todd Golub, Broad Institute of MIT and Harvard Dana Farber Cancer Institute, Boston, MA, USA MeSH: Multiple Myeloma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000348 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.

Link

dbGaP study = phs000348

Stichworte

  1. 20.08.22 20.08.22 - Simon Heim
  2. 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber

Todd Golub, Broad Institute of MIT and Harvard Dana Farber Cancer Institute, Boston, MA, USA

Hochgeladen am

12. Oktober 2022

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs000348 Towards a Genomic Understanding of Myeloma

    This sample attributes data table is collected from patients diagnosed with multiple myeloma. Variables include body site where sample was collected, analyte type, and tumor status.

    pht002231
    Beschreibung

    pht002231

    De-identified Sample ID
    Beschreibung

    SAMPID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2346787 (Anonymous)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Body site where sample was collected
    Beschreibung

    BODY_SITE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Analyte Type
    Beschreibung

    ANALYTE_TYPE

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)
    Tumor status
    Beschreibung

    IS_TUMOR

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005

    Ähnliche Modelle

    This sample attributes data table is collected from patients diagnosed with multiple myeloma. Variables include body site where sample was collected, analyte type, and tumor status.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht002231
    SAMPID
    Item
    De-identified Sample ID
    string
    C2346787 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte Type
    string
    C4744818 (UMLS CUI [1,1])
    IS_TUMOR
    Item
    Tumor status
    string
    C0475752 (UMLS CUI [1,1])

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