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Article

Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes

2021-01-15

Abstract excerpt

<h4>ABSTRACT</h4> Structural chromosomal variants [copy number variants (CNVs): losses/ gains and structural variants (SVs): inversions, balanced and unbalanced fusions/translocations] are important for diagnosis and risk-stratification of myelodysplastic syndromes (MDS). Optical genome mapping (OGM) is a novel single-platform cytogenomic technique that enables high-throughput, accurate and genome-wide detection o...

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Literature Corpus work
e4b08652-98c4-52cb-a5d9-774ba5bee307
DOI
10.1101/2021.01.13.21249611
Open publication

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Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic SyndromesDOI 10.1101/2021.01.13.21249611
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