A direct comparison of interphase FISH versus low-coverage single cell sequencing to detect aneuploidy reveals respective strengths and weaknesses

Grasiella A. Andriani, Elaine Maggi, Daniel Piqué, Samuel E. Zimmerman, Moonsook Lee, Wilber Quispe-Tintaya, Alexander Maslov, Judith Campisi, Jan Vijg, Jessica C. Mar, Cristina Montagna

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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.

Original languageEnglish (US)
Article number10508
JournalScientific reports
Issue number1
Publication statusPublished - Dec 1 2019


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