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An online locus-specific mutation database for familial hypertrophic cardiomyopathy
1Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia. dfung@med.usyd.edu.au
Human Mutation
|September 30, 1999
Summary
This study presents an online database detailing 123 familial hypertrophic cardiomyopathy (FHC) mutations. This resource aids researchers and clinicians in understanding genotype/phenotype correlations for FHC.
Area of Science:
- Cardiology
- Genetics
- Bioinformatics
Background:
- Familial hypertrophic cardiomyopathy (FHC) is a genetic heart condition.
- Understanding genotype-phenotype correlations is crucial for FHC research and clinical practice.
- Existing resources for FHC-associated mutations may be fragmented or outdated.
Purpose of the Study:
- To establish a comprehensive, updated, locus-specific online mutation database for familial hypertrophic cardiomyopathy (FHC).
- To facilitate the publication of novel FHC mutation data.
- To support research into genotype/phenotype correlations in FHC.
Main Methods:
- Development of a locus-specific mutation database.
- Implementation of CGI/HTTP methods for data retrieval.
- Creation of an HTML interface for web browser access.
Main Results:
- Cataloguing of 123 FHC-associated mutations.
- Inclusion of ancillary data relevant to FHC mutations.
- Provision of a queryable online resource via a web browser.
Conclusions:
- The developed online database serves as a valuable resource for researchers and clinicians studying FHC.
- The database facilitates access to summarised and updated information on FHC mutations.
- This resource aids in advancing the understanding of genotype/phenotype correlations in familial hypertrophic cardiomyopathy.