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Article

Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping.

Current protocols - 1 Jan 2023

Koppikar Pratik, Shenoy Suresh, Guruju Naga, Hegde Madhuri

Abstract excerpt

The introduction of optical genome mapping has improved time constraints and a lack of specificity from previous methodologies when performing genome-wide analyses of samples. Optical genome mapping allows for the detection of structural variations, aberrations, and functionality traits from a single stained molecule of DNA. Though the preparation time is increased compared to previously utilized visualization...

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PMID: 36648278
DOI: 10.1002/cpz1.629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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