ID

45538

Description

Principal Investigator: Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA MeSH: Mendelian Conditions,Alstrom Syndrome,Arrhythmogenic Right Ventricular Dysplasia,Syndactyly,Craniofacial Abnormalities,Neurofibromatoses,Ullrich congenital muscular dystrophy,Aortic Aneurysm, Thoracic,Rubinstein-Taybi Syndrome,Acne Inversa,Achondroplasia,Exostoses, Multiple Hereditary,Arthrogryposis, Renal Dysfunction, And Cholestasis,Van Den Ende-Gupta Syndrome,BO Syndrome 3,SMDCRD,Loeys-Dietz Syndrome, Type 1a,Cardiomyopathy, Dilated,OI, Type VI,Sotos Syndrome,Charcot-Marie-Tooth Disease,Microcephaly https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000711 The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

Link

dbGaP study = phs000711

Keywords

  1. 12/29/22 12/29/22 - Simon Heim
Copyright Holder

Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA

Uploaded on

December 29, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000711 Baylor Hopkins Center for Mendelian Genomics (BH CMG)

This subject sample mapping data table includes a 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.

pht003722
Description

pht003722

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

SUBJID

Data type

string

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

SAMPID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222

Similar models

This subject sample mapping data table includes a 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.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003722
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])

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