Abstract:
:Aneuploidy has been reported to occur at remarkably high levels in normal somatic tissues using Fluorescence In Situ Hybridization (FISH). Recently, these reports were contradicted by single-cell low-coverage whole genome sequencing (scL-WGS) analyses, which showed aneuploidy frequencies at least an order of magnitude lower. To explain these seemingly contradictory findings, we used both techniques to analyze artificially generated mock aneuploid cells and cells with natural random aneuploidy. Our data indicate that while FISH tended to over-report aneuploidies, a modified 2-probe approach can accurately detect low levels of aneuploidy. Further, scL-WGS tends to underestimate aneuploidy levels, especially in a polyploid background.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Andriani GA,Maggi E,Piqué D,Zimmerman SE,Lee M,Quispe-Tintaya W,Maslov A,Campisi J,Vijg J,Mar JC,Montagna Cdoi
10.1038/s41598-019-46606-wsubject
Has Abstractpub_date
2019-07-19 00:00:00pages
10508issue
1issn
2045-2322pii
10.1038/s41598-019-46606-wjournal_volume
9pub_type
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