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

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 Rep

journal_title

Scientific reports

authors

Andriani GA,Maggi E,Piqué D,Zimmerman SE,Lee M,Quispe-Tintaya W,Maslov A,Campisi J,Vijg J,Mar JC,Montagna C

doi

10.1038/s41598-019-46606-w

subject

Has Abstract

pub_date

2019-07-19 00:00:00

pages

10508

issue

1

issn

2045-2322

pii

10.1038/s41598-019-46606-w

journal_volume

9

pub_type

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