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Abstract

July - September 2023 | Vol. 16 | Issue 3 | 14-18
Next Generation Cytogenetics - Optical Genome Mapping
Sofia Banu, Kanakavalli M K, Chandreswara Raju Kataru, Divya Tej Sowpati, Karthik Bharadwaj Tallapaka
CSIR-Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, Telangana, India
Address for Correspondence Email: karthikt@ccmb.res.in
 
Abstract
Optical genome mapping (OGM) is a state-of-the-art technology that is being increasingly adopted by genomic laboratories across the world to detect structural variations (SVs). Conventional cytogenetic/ molecular genetic technologies used to detect SVs like insertions, deletions, inversions, duplications, and translocations have several limitations and/or are highly dependent on the technical expertise of the personnel. Next-generation sequencing which has revolutionized rare disease diagnosis with its ability to detect small genomic variants (such as single nucleotide variants and small indels) also has several shortcomings in identifying structural variations and certain repeat disorders like facioscapulohumeral dystrophy (FSHD). OGM has a significantly higher resolution than techniques such as karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray (CMA) and can detect a wider range of variants in a single assay. With a relatively simple workflow and automated analysis pipelines it is less operator dependent and produces robust and reproducible results with rapid turnaround times. Here, we discuss the technology and elucidate its utility in clinical diagnostic settings.
 
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