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Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies

2022-12-29 genetic and genomic medicine Title + abstract only
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Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Standard-of-care (SOC) methods such as karyotyping and fluorescence in situ hybridization (FISH), employed globally for the past three decades have significant limitations in the resolution or the number of recurrent aberrations that can be simultaneously assessed, respectively. Next-generation sequencing (NGS) based technologies are now widely used to detect clinically significant sequence variants b...

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