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
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Beschreibung

BODY_SITE

Datentyp

string

Alias
UMLS CUI [1,1]
C0449705
Analyte Type
Beschreibung

ANALYTE_TYPE

Datentyp

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Beschreibung

IS_TUMOR

Datentyp

string

Alias
UMLS CUI [1,1]
C0475752

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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