Robust and efficient annotation of cell states through gene signature scoring

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Authors: Laure Ciernik, Agnieszka Kraft, Florian Barkmann, Josephine Yates, Valentina Boeva
Cited by: 1
References: 71

Abstract

Gene signature scoring is integral to single-cell RNA sequencing (scRNA-seq) data analysis, particularly for unsupervised cellular state annotation based on maximum signature score values. However, this application requires robust and comparable score distributions across diverse signatures and experimental conditions. Our systematic evaluation of established scoring methodologies-Seurat, SCANPY, UCell, and JASMINE-across nine healthy and cancer scRNA-seq data sets demonstrates their insufficiency in fulfilling this requirement. To address this limitation, we present Adjusted Neighborhood Scoring (ANS), a deterministic algorithm with enhanced control gene selection that significantly improves score stability and cross-signature comparability, achieving cell-state annotation accuracy comparable to supervised methods. We demonstrate the practical utility of ANS by developing and validating a gene signature to differentiate cancer-associated fibroblasts from malignant cells undergoing epithelial-to-mesenchymal transition. Overall, ANS provides a robust and reliable gene signature scoring framework, significantly improving the accuracy of score-based annotation of cell types and states in single-cell studies.

Fields of Study & Subjects

Single-cell and spatial transcriptomics Cancer Genomics and Diagnostics Gene expression and cancer classification

Publication details

Journal / source
Genome Research
Publisher
Cold Spring Harbor Laboratory
Volume
36
Issue
3
Pages
630–644
Publication date
18 February 2026
Language
EN
Document type
Preprint