English

Sample ID, analtype type, body site where sample was obtained, tumor status of sample, sequencing center, genotyping center, and histological type of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.

6 forms  
pht006236
Description

pht006236

Alias
UMLS CUI [1,1]
C3846158
De-identified sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Description

BODY_SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type
Description

ANALYTE_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C4744818
Histological type
Description

HISTOLOGICAL_TYPE

Data type

text

Alias
UMLS CUI [1,1]
C0449574
Tumor status
Description

IS_TUMOR

Data type

text

Alias
UMLS CUI [1,1]
C0475752
Name of the center which conducted genotyping
Description

GENOTYPING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C0027365
UMLS CUI [1,2]
C5575037
UMLS CUI [1,3]
C1285573
Name of the center which conducted sequencing
Description

SEQUENCING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C0027365
UMLS CUI [1,2]
C5575037
UMLS CUI [1,3]
C1561491
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Similar models

Sample ID, analtype type, body site where sample was obtained, tumor status of sample, sequencing center, genotyping center, and histological type of participants involved in the "Biesecker Lab (NHGRI) Whole Genome Medical Sequencing for Gene Discovery" project.

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht006236
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified sample ID
string
C4684638 (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])
HISTOLOGICAL_TYPE
Item
Histological type
text
C0449574 (UMLS CUI [1,1])
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
IS_TUMOR
Code List
Tumor status
CL Item
Is not a tumor (N)
C0027651 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
CL Item
Is tumor (Y)
C0027651 (UMLS CUI [1,1])
GENOTYPING_CENTER
Item
Name of the center which conducted genotyping
string
C0027365 (UMLS CUI [1,1])
C5575037 (UMLS CUI [1,2])
C1285573 (UMLS CUI [1,3])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing
string
C0027365 (UMLS CUI [1,1])
C5575037 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
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