Table 2.
Selected tools and resources for the identification of malignant cells in scRNA-seq data
| Resource | Type/readout | Comments | Availability and references |
|---|---|---|---|
| InferCNV | Copy number alterations | Arguably the most widely used method for CNA detection in scRNA-seq | https://github.com/broadinstitute/infercnv23 |
| CopyKAT | Among top performers in recent benchmarks, especially when using only gene expression matrix | https://github.com/navinlabcode/copykat24 | |
| Numbat | Exploits allelic imbalance to improve CNA prediction; requires sequencing reads | https://github.com/kharchenkolab/numbat27 | |
| LISI | Inter-patient heterogeneity | A simple metric of patient mixing | https://github.com/immunogenomics/LISI45 |
| scIntegrationMetrics | Implements per-cell-type LISI and additional metrics | https://github.com/carmonalab/scIntegrationMetrics129 | |
| scAllele | Single nucleotide alterations | SNA detection tailored for scRNA-seq | https://github.com/gxiaolab/scAllele50 |
| Monopogen | SNA calling (germline + somatic) leveraging linkage disequilibrium from reference panels | https://github.com/KChen-lab/Monopogen51 | |
| STAR-fusion | Fusion transcripts | Primarily designed for bulk RNA-seq, but can be adapted for single-cell data | https://github.com/STAR-Fusion/STAR-Fusion62 |
| scFusion | Specific for gene fusion detection at single-cell resolution | https://github.com/XiDsLab/scFusion65 | |
| UCell | Gene signature scoring | Simple and robust rank-based gene set scoring | https://github.com/carmonalab/UCell130 |
| GSVA | Implements methods for gene set enrichment analysis | https://github.com/rcastelo/GSVA131 | |
| scATOMIC | Automated classifier | Integrated pipeline for cell type classification, including malignant vs. normal cells | https://github.com/copykat-lab/scATOMIC82 |
| Ikarus | Relies on DEG signatures between normal and malignant cells | https://github.com/BIMSBbioinfo/ikarus122 | |
| scMalignantFinder | Uses logistic regression trained on curated pan‑cancer gene signatures and DEGs | https://github.com/Jonyyqn/scMalignantFinder123 | |
| OncoDB | Database | Collates expression profiles for cancer vs. normal tissues | https://oncodb.org/81 |
| 3CA | Provides robust transcriptional meta-programs for several cancer types | https://www.weizmann.ac.il/sites/3CA/114 | |
| HPA | Includes scRNA-seq expression profiles for many tissues and cell types | https://www.proteinatlas.org/132 |