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. 2025 Aug 22;8:1264. doi: 10.1038/s42003-025-08695-4

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