Englisch

Sample ID, analyte type, tumor status, and array platform used genotyping of participants with Moebius Syndrome and related congenital facial weakness disorders and involved in the "Birth Defects: Moebius Syndrome and Related Congenital Facial Weakness Disorders" project.

6 Formulare  
pht010794
Beschreibung

pht010794

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

SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C1299222
Analyte Type [DNA]
Beschreibung

ANALYTE_TYPE

Datentyp

text

Alias
UMLS CUI [1,1]
C4744818
UMLS CUI [1,2]
C0012854
Tumor status
Beschreibung

IS_TUMOR

Datentyp

text

Alias
UMLS CUI [1,1]
C0475752
SNP array platform used to perform SNP genotyping; Capture kit used for short-read pair-end WES; or Sequencing platform used to perform short-read pair-end WGS [SNP array (HumanOmni2-5Exome-8-v1-1-A; InfiniumOmni2-5Exome-8v1-3_A2; HumanOmni2.5-4v1_B); WES (Nimblegen SeqCap EZ Exome v2.0; Agilent SureSelect Human All Exon V4; Illumina TruSeq 1.0); WGS (Illumina)]
Beschreibung

PLATFORM

Datentyp

string

Alias
UMLS CUI [1,1]
C3897601
UMLS CUI [1,2]
C1285573
UMLS CUI [1,3]
C3640077
UMLS CUI [1,4]
C5401061
UMLS CUI [1,5]
C3640076
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Ähnliche Modelle

Sample ID, analyte type, tumor status, and array platform used genotyping of participants with Moebius Syndrome and related congenital facial weakness disorders and involved in the "Birth Defects: Moebius Syndrome and Related Congenital Facial Weakness Disorders" project.

6 Formulare
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht010794
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
ANALYTE_TYPE
Item
Analyte Type [DNA]
text
C4744818 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
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])
PLATFORM
Item
SNP array platform used to perform SNP genotyping; Capture kit used for short-read pair-end WES; or Sequencing platform used to perform short-read pair-end WGS [SNP array (HumanOmni2-5Exome-8-v1-1-A; InfiniumOmni2-5Exome-8v1-3_A2; HumanOmni2.5-4v1_B); WES (Nimblegen SeqCap EZ Exome v2.0; Agilent SureSelect Human All Exon V4; Illumina TruSeq 1.0); WGS (Illumina)]
string
C3897601 (UMLS CUI [1,1])
C1285573 (UMLS CUI [1,2])
C3640077 (UMLS CUI [1,3])
C5401061 (UMLS CUI [1,4])
C3640076 (UMLS CUI [1,5])
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