Subject ID, sample ID, and sample use variable obtained from subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.

pht002322
Description

pht002322

Subject ID
Description

SUBJECT_ID

Type de données

string

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

SAMPLE_ID

Type de données

string

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

SAMPLE_USE

Type de données

text

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C0370003

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