Englisch

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.

6 Formulare  
  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.
pht003711
Beschreibung

pht003711

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschreibung

SUBJECT_ID

Datentyp

string

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

SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate
Beschreibung

SAMPLE_SOURCE

Datentyp

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C2347026
Sample ID used in the Source Repository
Beschreibung

SOURCE_SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Sample use. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
Beschreibung

SAMPLE_USE

Datentyp

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063
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Ähnliche Modelle

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.

6 Formulare
  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
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht003711
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_SOURCE
Item
Source repository where samples originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
SOURCE_SAMPLE_ID
Item
Sample ID used in the Source Repository
string
C1299222 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
SAMPLE_USE
Item
Sample use. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
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