HRA010055
Title:
Genetics of sporadic hypertrophic cardiomyopathy
Release date:
2025-01-15
Description:
This project aims to identify novel gene mutations in sporadic hypertrophic cardiomyopathy (HCM), particularly in patients with unexplained cases. We performed whole exome sequencing (WES) on HCM patients from Fuwai Hospital and Xi'an Jiaotong University First Affiliated Hospital to explore potential pathogenic variants. Patients selected for the study have left ventricular outflow tract obstruction and no family history of HCM. The project seeks to provide insights into early diagnosis, personalized treatment, and better clinical management of HCM through genetic analysis.
Data Accessibility:   
Controlled access Request Data
BioProject:
Study type:
Disease Study
Disease name:
hypertrophic cardiomyopathy
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
DAC name:
HCM Genome Access Committee
Contact person:
Wang Yibo
Email:
yibowang@hotmail.com
Description:
The Data Access Committee (DAC) is responsible for reviewing and authorizing requests for controlled access to data in accordance with the terms of consent and national research ethics regulations. The DAC members are primarily from the institutions involved in sample collection and data generation. This DAC will focus on managing access to the genomic and clinical data related to the sporadic hypertrophic cardiomyopathy (HCM) study.
Individuals & samples
Submitter:   Wang Yibo / yibowang@hotmail.com
Organization:   Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College
Submission date:   2024-12-02
Requests:   -