Fig. 1
From: Mosaic autosomal aneuploidies are detectable from single-cell RNAseq data
Successful detection of aneuploidies from scRNA-seq data. a Overview of the method. Cells with aneuploid chromosomes (purple and green) have altered levels of transcription of genes on the affected chromosome (less and more, respectively). For a given chromosome and cell, we compute a score for how deviant the overall expression of genes on that chromosome is relative to that in other cells. b We applied our method to 8-cell stage mouse embryos that were sequenced via a parallel genome and transcriptome method (G&T-seq). Our method performs well compared to the ground truth provided by genomic sequencing (sensitivity 78.0%, specificity 99.5%, FDR 11.4%). The chromosome with high Z-score in embryo F is not called as aneuploid as it does not pass an effect size threshold (“Methods” section)