ID

45525

Descripción

Principal Investigator: Wendy Raskind, University of Washington, Seattle, WA, USA MeSH: Nervous System Diseases,Ataxia,Charcot-Marie-Tooth Disease,Dyskinesia, Familial, with Facial Myokymia,Dystonia,Hereditary Sensory and Motor Neuropathy,Parkinsonian Disorders,Spinocerebellar Ataxias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000707 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. This dataset was obtained from exome analyses of people with hereditary neurologic disorders of unknown cause.

Link

dbGaP study = phs000707

Palabras clave

  1. 14/12/22 14/12/22 - Simon Heim
Titular de derechos de autor

Wendy Raskind, University of Washington, Seattle, WA, USA

Subido en

14 de diciembre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000707 Next Generation Mendelian Genetics: Hereditary Neurological Disorders

Subject - Sample Mapping - Sample Use

pht003715
Descripción

pht003715

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Descripción

SUBJID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
De-identified Sample ID
Descripción

SAMPID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Sample source
Descripción

SAMPLE_SOURCE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0370003
UMLS CUI [1,2]
C0449416
De-identified Source Sample ID
Descripción

SOURCE_SAMPLE_ID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C4684638
Use of samples. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
Descripción

SAMPLE_USE

Tipo de datos

string

Alias
UMLS CUI [1,1]
C3640077
UMLS CUI [1,2]
C0752046
UMLS CUI [1,3]
C3640077

Similar models

Subject - Sample Mapping - Sample Use

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht003715
C3846158 (UMLS CUI [1,1])
SUBJID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
SAMPID
Item
De-identified Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
SAMPLE_SOURCE
Item
Sample source
string
C0370003 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
SOURCE_SAMPLE_ID
Item
De-identified Source Sample ID
string
C1299222 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C4684638 (UMLS CUI [1,3])
SAMPLE_USE
Item
Use of samples. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
string
C3640077 (UMLS CUI [1,1])
C0752046 (UMLS CUI [1,2])
C3640077 (UMLS CUI [1,3])

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