Please use this identifier to cite or link to this item: http://10.9.150.37:8080/dspace//handle/atmiyauni/2033
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dc.contributor.authorPatel, K-
dc.contributor.authorBhatt, A. D-
dc.contributor.authorShah, K.,-
dc.contributor.authorWaghela, B. N-
dc.contributor.authorPandit, R. J. R. J.-
dc.contributor.authorSheth, H.-
dc.contributor.authorJoshi, M.-
dc.date.accessioned2024-11-25T11:13:51Z-
dc.date.available2024-11-25T11:13:51Z-
dc.date.issued2021-
dc.identifier.citationPatel, K. M., Bhatt, A. D., Shah, K., Waghela, B. N., Pandit, R. J., Sheth, H., ... & Joshi, M. N. (2021). Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing. Frontiers in Genetics, 12, 770350.en_US
dc.identifier.urihttp://10.9.150.37:8080/dspace//handle/atmiyauni/2033-
dc.description.abstractMuscular Dystrophies (MDs) are a group of inherited diseases and heterogeneous in nature. To date, 40 different genes have been reported for the occurrence and/or progression of MDs. This study was conducted to demonstrate the application of next-generation sequencing (NGS) in developing a time-saving and cost-effective diagnostic method to detect single nucleotide variants (SNVs) and copy number variants (CNVs) in a single test. A total of 123 cases clinically suspected of MD were enrolled in this study. Amplicon panel-based diagnosis was carried out for 102 (DMD/BMD) cases and the results were further screened using multiplex ligation-dependent probe amplification (MLPA). Whilst in the case of LGMD (N = 19) and UMD (N = 2), only NGS panel-based analysis was carried out. We identified the large deletions in 74.50% (76/102) of the cases screened with query DMD or BMD. Further, the large deletion in CAPN3 gene (N = 3) and known SNV mutations (N = 4) were identified in LGMD patients. Together, the total diagnosis rate for this amplicon panel was 70.73% (87/123) which demonstrated the utility of panel-based diagnosis for high throughput, affordable, and time-saving diagnostic strategy. Collectively, present study demonstrates that the panel based NGS sequencing could be superior over to MLPA.en_US
dc.language.isoenen_US
dc.publisherFrontiers in Geneticsen_US
dc.subjectnext generation sequencingen_US
dc.subjectmultiplex ligation-dependent probe amplificationen_US
dc.subjectmuscular dystrophyen_US
dc.subjectbecker muscular dystrophyen_US
dc.subjectlimb-girdle muscularen_US
dc.subjectdystrophies, congenitalen_US
dc.titleMolecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencingen_US
dc.typeArticleen_US
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