ID
45475
Beschreibung
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
Stichworte
Versionen (2)
- 2022-10-26 2022-10-26 - Simon Heim
- 2022-12-13 2022-12-13 - Kristina Keller
Rechteinhaber
Ray E Hershberger, The Ohio State University, Columbus, OH, USA
Hochgeladen am
13 december 2022
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs000581 NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, subject source ID, consent group, and affection status of subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.
- Family ID, subject ID, mother ID, father ID, and sex of subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.
- 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.
- Subject ID, age onset, sex, ethnicity, and race of subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.
- 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.
Ähnliche Modelle
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, subject source ID, consent group, and affection status of subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.
- Family ID, subject ID, mother ID, father ID, and sex of subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.
- 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.
- Subject ID, age onset, sex, ethnicity, and race of subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.
- 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.
C0205091 (UMLS CUI [1,2])
C5232641 (UMLS CUI [1,3])
C0013516 (UMLS CUI [1,4])
C1142231 (UMLS CUI [1,5])
C0340427 (UMLS CUI [2,1])
C2322232 (UMLS CUI [2,2])
C1524062 (UMLS CUI [2,3])
C2322256 (UMLS CUI [2,4])