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Genome Mapping Nomenclature

1 Jan 2023

Abstract excerpt

BACKGROUND: Genome Mapping Technologies (optical and electronic) use ultra-high molecular weight DNA to detect structural variation and have application in constitutional genetic disorders, hematological neoplasms, and solid tumors. Genome mapping can detect balanced and unbalanced structural variation, copy number changes, and haplotypes. The technique is analogous to chromosomal microarray analysis, although...

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PMID: 38071973
DOI: 10.1159/000535684

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