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ID

45183

Descrição

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

Palavras-chave

  1. 20/08/2022 20/08/2022 - Simon Heim
  2. 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos

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

Transferido a

12 de outubro de 2022

DOI

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Licença

Creative Commons BY 4.0

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    dbGaP phs000348 Towards a Genomic Understanding of Myeloma

    The subject sample mapping data table contains a mapping of study subject IDs to sample IDs and sample use. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.

    pht002229
    Descrição

    pht002229

    Subject ID
    Descrição

    SUBJID

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C2348585
    Sample ID
    Descrição

    SAMPID

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C1299222
    Data Types generated for sample. Seq_DNA_SNP_MAF_Ind: Sample(s) were used to generate aggregate mutation annotation file (.maf) with individual SNP genotypes; Seq_DNA_SNP_MAF_Sum: Samples were used to generate aggregate mutation annotation file (.maf); Seq_DNA_WholeExome: Whole exome sequencing; Seq_DNA_WholeGenome: Whole genome sequencing
    Descrição

    SAMPLE_USE

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C1609081

    Similar models

    The subject sample mapping data table contains a mapping of study subject IDs to sample IDs and sample use. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    Alias
    Item Group
    pht002229
    SUBJID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    SAMPID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    SAMPLE_USE
    Item
    Data Types generated for sample. Seq_DNA_SNP_MAF_Ind: Sample(s) were used to generate aggregate mutation annotation file (.maf) with individual SNP genotypes; Seq_DNA_SNP_MAF_Sum: Samples were used to generate aggregate mutation annotation file (.maf); Seq_DNA_WholeExome: Whole exome sequencing; Seq_DNA_WholeGenome: Whole genome sequencing
    string
    C1609081 (UMLS CUI [1,1])

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