ArticleIndian heart journal
Genotyping Indian patients with primary cardiomyopathies-analysis of database.
Article in Indian heart journal. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.Orphanet journal of rare diseases · 2024Article
- Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.Indian heart journalArticle
- Cardiogenetics: Closing the knowledge gap in India.Indian pacing and electrophysiology journalArticle
- Genetic testing of cardiomyopathies: Position statement of the Cardiological Society of India.Indian heart journalArticle
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionEach population has its own unique genotype. Genotyping data on Indian cardiomyopathy patients is lacking.
methodsWe aimed to create and analyse a database of sequence variations in Indian patients with primary cardiomyopathies. This included all data of the cardiomyopathy cohort at the Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh. In addition, all published papers in Pubmed containing sequence variations in Indian cardiomyopathy patients till December 2020 using specific search terms were included. Affected genes and sequence variations, methodologies and quality of clinical data was analysed. Novel sequence variations were documented.
resultsA database of 493 datasets including 417 different sequence variations was created. Of these, the PGIMER database had 137 datasets consisting of 94 different variants. Only 63 publications included genotyping data of Indian cardiomyopathy cohort from 2000 to 2020 reporting 335 sequence variations. Five (7.9%) studies were from institutions abroad. Of published variations, 35.1% were novel. Most studies carried out selective genotyping. Comprehensive genotyping using cardiomyopathy panels or whole exome sequencing was reported in only 9 (14.3%) publications.
conclusionDatabase of 417 different sequence variations in Indian cardiomyopathy patients was analysed. Over a third of all reported sequence variations in Indians were novel.
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