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Optical Genome Mapping: Clinical Validation and Diagnostic Utility for Enhanced Cytogenomic Analysis of Hematological Neoplasms

2022-03-15

Abstract excerpt

Hematological neoplasms are predominantly defined by chromosomal aberrations that include structural variations (SVs) and copy number variations (CNVs). The current standard-of-care (SOC) genetic testing for the detection of SVs and CNVs relies on a combination of traditional cytogenetic techniques that include karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarrays (CMA). These techniq...

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Literature Corpus work
5dd39e62-56a0-580f-958d-0c04bee3869b
DOI
10.1101/2022.03.14.22272363
Open publication

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Optical Genome Mapping: Clinical Validation and Diagnostic Utility for Enhanced Cytogenomic Analysis of Hematological NeoplasmsDOI 10.1101/2022.03.14.22272363
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