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.

Lien

dbGap study = phs000581

Mots-clés

  1. 26/10/2022 26/10/2022 - Simon Heim
  2. 13/12/2022 13/12/2022 - Kristina Keller
Détendeur de droits

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

Téléchargé le

13 décembre 2022

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

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

Sample ID, body site where samples were obtained, and analyte type of samples obtained from subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.

pht003207
Description

pht003207

De-identified sample ID
Description

Lab_Sample_Name

Type de données

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Body site where sample was collected
Description

Body_site

Type de données

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type
Description

analyte_type

Type de données

string

Alias
UMLS CUI [1,1]
C4744818

Similar models

Sample ID, body site where samples were obtained, and analyte type of samples 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)
Type de données
Alias
Item Group
pht003207
Lab_Sample_Name
Item
De-identified sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
Body_site
Item
Body site where sample was collected
string
C0449705 (UMLS CUI [1,1])
analyte_type
Item
Analyte type
string
C4744818 (UMLS CUI [1,1])

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