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O36: Moving on from cytogenetics: The evolution from squash preparations to next generation sequencing and the importance of microarray analysis*

Year: 2023

Type: article

Abstract: Cytogenetics has progressed from squash preparations for morphological examination of chromosomes to microarray analysis, and is beginning to evolve to optical mapping and next generation sequencing. However, the underlying importance of detecting copy number change and uniparental disomy has not changed, and has only been amplified. This study not only indicates the efficacy and usefulness of this technology, but has broad implications of the utilization and interpretation of microarray analysis as technologies advance.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2023.100462

Authors: Stuart Schwartz, Alexandra Arreola, Inder Gadi, Gloria Haskell, Patrick Lennon, Andrea Penton, Karen Phillips, Venkateswara Potluri, James Tepperberg

Institution: LabCorp (United States)

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W4324117141

FWCI:

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