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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method
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Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method
Preprint Article Version 1 This version is not peer-reviewed Version 1 : Received: 30 January 2024 / Approved: 31 January 2024 / Online: 31 January 2024 (08:06:12 CET) Barseghyan, H.; Eisenreich, D.; Lindt, E.; Wendlandt, M.; Scharf, F.; Benet-Pages, A.; Sendelbach, K.; Neuhann, T.; Abicht, A.; Holinski-Feder, E.; Koehler, U. Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method. Preprints 2024, 2024012182.
Genes | Free Full-Text | Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement
1. Introduction Since the completion of the human genome project, the development of molecular technologies has helped many research investigators around the world to uncover the underlying genetic causes for hundreds of disorders [1].
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