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 subject phenotype data table is collected from patients diagnosed with multiple myeloma. The phenotype variables collected were sociodemography (n=2 variables; gender and race), physical observations (n=4 variables; presence and absence of lytic lesions, survival status and age of diagnosis), laboratory measurements (n=14 variables; heavy and light chain class, M-spike, hemoglobin levels, platelet counts, CRP, kappa and lambda levels, creatinine, calcium, LDH and albumin serum levels), and treatment history (n=1 variable).

pht002230
Beschreibung

pht002230

Unique Participant Identifier
Beschreibung

SUBJID

Datentyp

string

Alias
UMLS CUI [1,1]
C2348585
Age of the participant at the time of diagnosis of their Primary Disease
Beschreibung

Age at Diagnosis

Datentyp

text

Maßeinheiten
  • Years
Alias
UMLS CUI [1,1]
C1828181
Years
Participant's gender as Male or Female
Beschreibung

Gender

Datentyp

string

Alias
UMLS CUI [1,1]
C0079399
Participant's race using US census definitions
Beschreibung

Race

Datentyp

string

Alias
UMLS CUI [1,1]
C0034510
The main disease(s) for which the participant has been asked to donate a sample for study
Beschreibung

Primary Disease

Datentyp

string

Alias
UMLS CUI [1,1]
C0277554
UMLS CUI [1,2]
C0370003
UMLS CUI [1,3]
C1880177
The participant's treatment history for Primary Disease
Beschreibung

Treatment History

Datentyp

string

Alias
UMLS CUI [1,1]
C0814462
UMLS CUI [1,2]
C0205225
UMLS CUI [1,3]
C0012634
Immunoglobulin heavy chain class
Beschreibung

Heavy chain class

Datentyp

string

Alias
UMLS CUI [1,1]
C0021034
Immunoglobulin light chain class
Beschreibung

Light chain class

Datentyp

string

Alias
UMLS CUI [1,1]
C0021038
M-spike (g/dL)
Beschreibung

M-spike

Datentyp

text

Maßeinheiten
  • g/dL
Alias
UMLS CUI [1,1]
C0242071
Hemoglobin (g/dL)
Beschreibung

Hemoglobin

Datentyp

text

Maßeinheiten
  • g/dL
Alias
UMLS CUI [1,1]
C0019046
UMLS CUI [1,2]
C1274040
UMLS CUI [1,3]
C0022885
UMLS CUI [1,4]
C1522609
Platelets (10^9/L)
Beschreibung

Platelet Count

Datentyp

text

Maßeinheiten
  • 10^9/L
Alias
UMLS CUI [1,1]
C0005821
UMLS CUI [1,2]
C0456524
Beta2-microglobulin (ug/dL)
Beschreibung

Beta2-microglobulin

Datentyp

text

Maßeinheiten
  • ug/dL
Alias
UMLS CUI [1,1]
C1274040
UMLS CUI [1,2]
C0022885
UMLS CUI [1,3]
C1522609
UMLS CUI [1,4]
C0005149
C-Reactive Protein (CRP) (mg/dL)
Beschreibung

CRP

Datentyp

text

Maßeinheiten
  • mg/dL
Alias
UMLS CUI [1,1]
C0201657
Serum free light chain kappa (mg/dL)
Beschreibung

Serum free light chain kappa

Datentyp

text

Maßeinheiten
  • mg/dL
Alias
UMLS CUI [1,1]
C0021036
Serum free light chain lambda (mg/dL)
Beschreibung

Serum free light chain lambda

Datentyp

text

Maßeinheiten
  • mg/dL
Alias
UMLS CUI [1,1]
C0021037
Serum free light chain ratio (kappa:lambda)
Beschreibung

Serum free light chain ratio

Datentyp

text

Alias
UMLS CUI [1,1]
C4700609
Serum creatinine (mg/dL)
Beschreibung

Serum creatinine

Datentyp

text

Maßeinheiten
  • mg/dL
Alias
UMLS CUI [1,1]
C0201976
Serum calcium (mg/dL)
Beschreibung

Serum calcium

Datentyp

text

Maßeinheiten
  • mg/dL
Alias
UMLS CUI [1,1]
C0201925
Serum LDH (U/L)
Beschreibung

Serum LDH

Datentyp

text

Maßeinheiten
  • U/L
Alias
UMLS CUI [1,1]
C0202113
Serum albumin (g/dL)
Beschreibung

Serum albumin

Datentyp

text

Maßeinheiten
  • g/dL
Alias
UMLS CUI [1,1]
C0201838
Lytic lesions
Beschreibung

Lytic lesions

Datentyp

string

Alias
UMLS CUI [1,1]
C0221204
Evidence for presence of lytic lesions
Beschreibung

Evidence for presence of lytic lesions

Datentyp

string

Alias
UMLS CUI [1,1]
C0332120
UMLS CUI [1,2]
C3854307
UMLS CUI [1,3]
C0221204
Evidence for absence of lytic lesions
Beschreibung

Evidence for absence of lytic lesions

Datentyp

string

Alias
UMLS CUI [1,1]
C0332120
UMLS CUI [1,2]
C0332197
UMLS CUI [1,3]
C0221204

Ähnliche Modelle

This subject phenotype data table is collected from patients diagnosed with multiple myeloma. The phenotype variables collected were sociodemography (n=2 variables; gender and race), physical observations (n=4 variables; presence and absence of lytic lesions, survival status and age of diagnosis), laboratory measurements (n=14 variables; heavy and light chain class, M-spike, hemoglobin levels, platelet counts, CRP, kappa and lambda levels, creatinine, calcium, LDH and albumin serum levels), and treatment history (n=1 variable).

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht002230
SUBJID
Item
Unique Participant Identifier
string
C2348585 (UMLS CUI [1,1])
Age at Diagnosis
Item
Age of the participant at the time of diagnosis of their Primary Disease
text
C1828181 (UMLS CUI [1,1])
Gender
Item
Participant's gender as Male or Female
string
C0079399 (UMLS CUI [1,1])
Race
Item
Participant's race using US census definitions
string
C0034510 (UMLS CUI [1,1])
Primary Disease
Item
The main disease(s) for which the participant has been asked to donate a sample for study
string
C0277554 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
C1880177 (UMLS CUI [1,3])
Treatment History
Item
The participant's treatment history for Primary Disease
string
C0814462 (UMLS CUI [1,1])
C0205225 (UMLS CUI [1,2])
C0012634 (UMLS CUI [1,3])
Heavy chain class
Item
Immunoglobulin heavy chain class
string
C0021034 (UMLS CUI [1,1])
Light chain class
Item
Immunoglobulin light chain class
string
C0021038 (UMLS CUI [1,1])
Item
M-spike (g/dL)
text
C0242071 (UMLS CUI [1,1])
Code List
M-spike (g/dL)
CL Item
not available (not available)
Item
Hemoglobin (g/dL)
text
C0019046 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
C0022885 (UMLS CUI [1,3])
C1522609 (UMLS CUI [1,4])
Code List
Hemoglobin (g/dL)
CL Item
not available (not available)
Item
Platelets (10^9/L)
text
C0005821 (UMLS CUI [1,1])
C0456524 (UMLS CUI [1,2])
Code List
Platelets (10^9/L)
CL Item
not available (not available)
Item
Beta2-microglobulin (ug/dL)
text
C1274040 (UMLS CUI [1,1])
C0022885 (UMLS CUI [1,2])
C1522609 (UMLS CUI [1,3])
C0005149 (UMLS CUI [1,4])
Code List
Beta2-microglobulin (ug/dL)
CL Item
not available (not available)
Item
C-Reactive Protein (CRP) (mg/dL)
text
C0201657 (UMLS CUI [1,1])
Code List
C-Reactive Protein (CRP) (mg/dL)
CL Item
not available (not available)
Item
Serum free light chain kappa (mg/dL)
text
C0021036 (UMLS CUI [1,1])
Code List
Serum free light chain kappa (mg/dL)
CL Item
not available (not available)
Item
Serum free light chain lambda (mg/dL)
text
C0021037 (UMLS CUI [1,1])
Code List
Serum free light chain lambda (mg/dL)
CL Item
not available (not available)
Item
Serum free light chain ratio (kappa:lambda)
text
C4700609 (UMLS CUI [1,1])
Code List
Serum free light chain ratio (kappa:lambda)
CL Item
not available (not available)
Item
Serum creatinine (mg/dL)
text
C0201976 (UMLS CUI [1,1])
Code List
Serum creatinine (mg/dL)
CL Item
not available (not available)
Item
Serum calcium (mg/dL)
text
C0201925 (UMLS CUI [1,1])
Code List
Serum calcium (mg/dL)
CL Item
not available (not available)
Item
Serum LDH (U/L)
text
C0202113 (UMLS CUI [1,1])
Code List
Serum LDH (U/L)
CL Item
not available (not available)
Item
Serum albumin (g/dL)
text
C0201838 (UMLS CUI [1,1])
Code List
Serum albumin (g/dL)
CL Item
not available (not available)
Lytic lesions
Item
Lytic lesions
string
C0221204 (UMLS CUI [1,1])
Evidence for presence of lytic lesions
Item
Evidence for presence of lytic lesions
string
C0332120 (UMLS CUI [1,1])
C3854307 (UMLS CUI [1,2])
C0221204 (UMLS CUI [1,3])
Evidence for absence of lytic lesions
Item
Evidence for absence of lytic lesions
string
C0332120 (UMLS CUI [1,1])
C0332197 (UMLS CUI [1,2])
C0221204 (UMLS CUI [1,3])

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