Nanopore sequencing of full-length MEFV gene Version 1
External LinkWe aimed to develop an affordable nanopore sequencing method for detecting full-length MEFV gene mutations, which would aid in the diagnosis and screening of FMF. We employed a multiplex amplicon sequencing approach, allowing for the processing of up to 12 samples on both Flow cells and Flongle flow cells. The results demonstrated near-complete concordance between nanopore variant calling and qPCR genotypes. Moreover, nanopore sequencing identified additional variants confirmed by whole exome sequencing.
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Created: 24th Jun 2026 at 06:11
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Version 1 (earliest) Created 24th Jun 2026 at 06:11 by Arsen Arakelyan
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Projects: Sex-specific differences in long-term gamma and simGCRsim-associated alterations in differential gene expression in the heart tissue, Functional Genomics of Vine, Molecular Profiling of Cancer Metastases, Omics-Based Insights into Human Long-Term Exposure to Environmental Metals, Biological pathway activity analysis, ML approaches for omic data analysis, Tools for Telomere Biology, Mental disorders and aging brain, Armenian Wine Genome Program, Study of the molecular mechanisms of familial Mediterranean fever using genetic engineering and functional genomics, Molecular characterization of cancers with long-read RNA sequencing, Low dose radiation risks: present research and future perspectives, Third International Congress "CRISPR-2025", International Summit in Immuno-Oncology, Molecular Diagnostics in Oncology and Related Fields of Medicine, Discovery of new antiviral compounds by combining in silico and in vitro methods, African swine fever virus, Whole genome and whole exome sequencing based analysis of diversity of genomic variants in Armenian population
Institutions: Institute of Molecular Biology NAS RA, Armenian Bioinformatics Institute
https://orcid.org/0000-0002-6851-1056
Cellular dysfunction, the fundamental basis of all human diseases, underpins the pathophysiology of numerous disorders. This program presents a overview of research initiatives focused on advancing human health through the development of diagnostic, preventive, and therapeutic strategies. These projects are conducted in collaboration with multiple research institutions and are supported by diverse grant funding mechanisms.
Projects: Study of the molecular mechanisms of familial Mediterranean fever using genetic engineering and functional genomics, Development of induced pluripotent stem cell bank of patients with Familial Mediterranean Fever
Web page: Not specified
In this project genetic engineering and functional genomics approaches will be used to describe molecular mechanisms of FMF. Using DNA/RNA samples obtained from FMF patients and healthy subjects MEFV nanopore gene sequencing will be performed to identify genetic variants and possibly find novel putative functional variants. The impact of genetic variants on transcriptome landscape will be studies by RNA-sequencing using nanopore sequencing device. Based on MEFV sequencing data and patients clinical ...
Programme: Cellular basis of diseases
Public web page: Not specified
Start date: 1st Sep 2021
End date: 31st Aug 2024
Abstract (Expand)
Authors: Lilit Ghukasyan, Gisane Khachatryan, Tamara Sirunyan, Arpine Minasyan, Siras Hakobyan, Andranik Chavushyan, Varduhi Hayrapetyan, Hovsep Ghazaryan, Gevorg Martirosyan, Gohar Mkrtchyan, Valentina Vardanyan, Vahan Mukuchyan, Ashot Davidyants, Roksana Zakharyan, Arsen Arakelyan
Date Published: 29th Nov 2024
Publication Type: Journal
