PT  - JOURNAL ARTICLE
AU  - Christian Dillard
AU  - Evgenia Ulianova
AU  - NM Prashant
AU  - Hongyu Liu
AU  - Nathan Edwards
AU  - Anelia Horvath
TI  - A wealth of novel cell-specific expressed SNVs from tumor and normal scRNA-seq datasets
AID  - 10.1101/2022.06.12.495797
DP  - 2022 Jan 01
TA  - bioRxiv
PG  - 2022.06.12.495797
4099  - http://biorxiv.org/content/early/2022/06/15/2022.06.12.495797.short
4100  - http://biorxiv.org/content/early/2022/06/15/2022.06.12.495797.full
AB  - We demonstrate a novel variant calling strategy using barcode-stratified alignments on 25 tumor and normal 10XGenomics scRNA-seq datasets (>200,000 cells). Our approach identified 24,528 exonic non-dbSNP single cell expressed (sce)SNVs, a third of which are shared across multiple samples. The novel sceSNVs include unreported somatic and germline variants, as well as RNA-originating variants; some are expressed in up to 17% of the cells, and many are found in known cancer genes. Our findings suggest that there is an unacknowledged repertoire of expressed genetic variants, possibly recurrent and common across samples, in the normal and cancer transcriptome.Competing Interest StatementThe authors have declared no competing interest.