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This sample attributes table includes body site where sample was extracted, analyte type, tumor status, histological type, DNA extraction method, genotyping and sequencing center.

6 forms  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, subject aliases, and affection status.
    3. The pedigree table includes subject ID, family ID, father and mother ID, and subject gender to link subjects of the same family.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are 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. The data table also includes sample aliases and sample use.
    5. This subject phenotype table includes subject gender, ancestry, ethnicity, race, paternal and maternal age at proband's birth, blood draw age, subject's relationship to proband, and final diagnosis. Physical observations include Tanner staging (n=6 variables) and CHARGE physical exam (n=9 variables). Laboratory measurements include serotonin (WB5HT) measurements (n=6 variables), karotype abnormalities, fragile-X test, duplication testing, and MRI. Psychological and Psychiatric Measurements include the following: cognitive measurments (n=11 variables), ADI-R (n=21 variables), VABS-II (n=6 variables), ADOS (n=12 variables), PPVT-4 (n=4 variables), EOWPVT (n=4 variables), CELF (n=3 variables), PLS-4 (n=4 variables), ABC-CV (n=6 variables), SCQ (n=3 variables), SRS (n=11 variables), RBS-R (n=9 variables), OCI-R (n=8 variables), CRI (n=4 variables), BAPQ (n=11 variables), PRL (n=9 variables), and SST (n=4 variables).
    6. This sample attributes table includes body site where sample was extracted, analyte type, tumor status, histological type, DNA extraction method, genotyping and sequencing center.
pht003713
Description

pht003713

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
Tumor status
Description

Tumor status

Data type

string

Alias
UMLS CUI [1,1]
C0475752
Cell or tissue type or subtype of sample
Description

HISTOLOGICAL_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0007634
UMLS CUI [1,3]
C0332307
UMLS CUI [2,1]
C2347026
UMLS CUI [2,2]
C0007634
UMLS CUI [2,3]
C0449560
UMLS CUI [3,1]
C1292533
UMLS CUI [3,2]
C0332307
UMLS CUI [4,1]
C1292533
UMLS CUI [4,2]
C0449560
DNA extraction method used at RUCDR
Description

DNA_ExtMethod

Data type

string

Alias
UMLS CUI [1,1]
C0449341
UMLS CUI [1,2]
C0012854
Name of the center which conducted genotyping
Description

GENOTYPING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1285573
Name of the center which conducted sequencing
Description

SEQUENCING_CENTER

Data type

string

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1561491
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Similar models

This sample attributes table includes body site where sample was extracted, analyte type, tumor status, histological type, DNA extraction method, genotyping and sequencing center.

6 forms
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, subject aliases, and affection status.
    3. The pedigree table includes subject ID, family ID, father and mother ID, and subject gender to link subjects of the same family.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are 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. The data table also includes sample aliases and sample use.
    5. This subject phenotype table includes subject gender, ancestry, ethnicity, race, paternal and maternal age at proband's birth, blood draw age, subject's relationship to proband, and final diagnosis. Physical observations include Tanner staging (n=6 variables) and CHARGE physical exam (n=9 variables). Laboratory measurements include serotonin (WB5HT) measurements (n=6 variables), karotype abnormalities, fragile-X test, duplication testing, and MRI. Psychological and Psychiatric Measurements include the following: cognitive measurments (n=11 variables), ADI-R (n=21 variables), VABS-II (n=6 variables), ADOS (n=12 variables), PPVT-4 (n=4 variables), EOWPVT (n=4 variables), CELF (n=3 variables), PLS-4 (n=4 variables), ABC-CV (n=6 variables), SCQ (n=3 variables), SRS (n=11 variables), RBS-R (n=9 variables), OCI-R (n=8 variables), CRI (n=4 variables), BAPQ (n=11 variables), PRL (n=9 variables), and SST (n=4 variables).
    6. This sample attributes table includes body site where sample was extracted, analyte type, tumor status, histological type, DNA extraction method, genotyping and sequencing center.
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003713
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])
Tumor status
Item
Tumor status
string
C0475752 (UMLS CUI [1,1])
HISTOLOGICAL_TYPE
Item
Cell or tissue type or subtype of sample
string
C2347026 (UMLS CUI [1,1])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])
DNA_ExtMethod
Item
DNA extraction method used at RUCDR
string
C0449341 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
GENOTYPING_CENTER
Item
Name of the center which conducted genotyping
string
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1285573 (UMLS CUI [1,3])
SEQUENCING_CENTER
Item
Name of the center which conducted sequencing
string
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
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