ID

45475

Description

Principal Investigator: Ray E Hershberger, The Ohio State University, Columbus, OH, USA MeSH: Cardiomyopathy, Dilated,Familial dilated cardiomyopathy,Idiopathic dilation cardiomyopathy https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000581 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. The goals for this project are to conduct exome sequencing for novel dilated cardiomyopathy (DCM) gene discovery in families with DCM. These families have already been sequenced for 15 DCM genes, accounting for approximately 75% of known genetic cause, without rare coding variants identified.

Link

dbGap study = phs000581

Keywords

  1. 10/26/22 10/26/22 - Simon Heim
  2. 12/13/22 12/13/22 - Kristina Keller
Copyright Holder

Ray E Hershberger, The Ohio State University, Columbus, OH, USA

Uploaded on

December 13, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000581 NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy)

Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.

pht003205
Description

pht003205

Subject ID
Description

SUBJID

Data type

string

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

SAMPID

Data type

string

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

SAMP_SOURCE

Data type

string

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

SOURCE_SAMPID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505
Sample Use
Description

SAMPLE_USE

Data type

text

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

Similar models

Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003205
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMP_SOURCE
Item
Source repository where samples originate
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SAMPID
Item
Sample ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
Item
Sample Use
text
C1524063 (UMLS CUI [1,1])
C0370003 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
Whole exome sequencing data available through SRA (WES_SRA)

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