ID

45183

Beskrivning

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.

Länk

dbGaP study = phs000348

Nyckelord

  1. 2022-08-20 2022-08-20 - Simon Heim
  2. 2022-10-12 2022-10-12 - Adrian Schulz
Rättsinnehavare

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

Uppladdad den

12 oktober 2022

DOI

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Licens

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
Beskrivning

pht002229

Subject ID
Beskrivning

SUBJID

Datatyp

string

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

SAMPID

Datatyp

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
Beskrivning

SAMPLE_USE

Datatyp

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
Typ
Description | Question | Decode (Coded Value)
Datatyp
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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