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Abstract

October - December 2023 | Vol. 16 | Issue 4 | 20-21
Optical Genome Mapping and Long Read Sequencing: Mirror of the Genome
Niladri Das, Sreeja Shankar
Department of Medical Genetics, SGPGIMS, Lucknow.
Address for Correspondence Email: me.niladri.das@gmail.com
 
Abstract
This study compared current standard of care (SOC) methods used in clinical cytogenetics (chromosomal microarray, karyotyping, fluorescent in situ hybridization, Southern blot analysis, and PCR) with optical genome mapping (OGM). The authors evaluated a total of 409 samples (50 negative controls and 359 individuals with suspected genetic disorders who were referred for cytogenetic testing. Structural variants including copy number variants (CNVs), aneuploidies, regions of homozygosity, contractions in facioscapulohumeral dystrophy 1, and repeat expansion in FMR1 were analyzed. The American College of Medical Genetics and Genomics (ACMG) guidelines were used for the classification of variants. Intrasite and intersite reproducibility, concordance of technical and clinical classification, and ability to provide additional clinically relevant information were used as measures for comparing OGM with SOC. Majority of the samples (98%) yielded successful data for interpretation and analysis. Technical concordance with OGM was 99.5% and replicative analysis showed 100% concordance. Blinded analysis and variant classification agreement was 97.6% between SOC and OGM. Thus, the authors concluded that OGM is an alternative to SOC for rapid diagnosis of postnatal constitutional disorders due to its analytic validity and clinical utility.
 
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