Single cell (sc) technologies mark a conceptual and methodological breakthrough in our way to study cells, the base units of life. Thanks to these technological developments, large-scale initiatives are currently ongoing aimed at mapping of all the cell types in the human body, with the ambitious aim to gain a cell-level resolution of physiological development and disease. Since its broad applicability and ease of interpretation scRNA-seq is probably the most common sc-based application. This assay uses high throughput RNA sequencing to capture gene expression profiles at the sc-level. Subsequently, under the assumption that differences in transcriptional programs correspond to distinct cellular identities, ad-hoc computational methods are used to infer cell types from gene expression patterns. A wide array of computational methods were developed for this task. However, depending on the underlying algorithmic approach and associated computational requirements, each method might have a specific range of application, with implications that are not always clear to the end user. Here we will provide a concise overview on state-of-the-art computational methods for cell identity annotation in scRNA-seq, tailored for new users and non-computational scientists. To this end, we classify existing tools in five main categories, and discuss their key strengths, limitations and range of application.

Mapping Cell Identity from scRNA-seq: A primer on computational methods / D. Traversa, M. Chiara. - In: COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL. - ISSN 2001-0370. - 27:(2025), pp. 1559-1569. [10.1016/j.csbj.2025.03.051]

Mapping Cell Identity from scRNA-seq: A primer on computational methods

D. Traversa
Primo
Conceptualization
;
M. Chiara
Ultimo
Writing – Review & Editing
2025

Abstract

Single cell (sc) technologies mark a conceptual and methodological breakthrough in our way to study cells, the base units of life. Thanks to these technological developments, large-scale initiatives are currently ongoing aimed at mapping of all the cell types in the human body, with the ambitious aim to gain a cell-level resolution of physiological development and disease. Since its broad applicability and ease of interpretation scRNA-seq is probably the most common sc-based application. This assay uses high throughput RNA sequencing to capture gene expression profiles at the sc-level. Subsequently, under the assumption that differences in transcriptional programs correspond to distinct cellular identities, ad-hoc computational methods are used to infer cell types from gene expression patterns. A wide array of computational methods were developed for this task. However, depending on the underlying algorithmic approach and associated computational requirements, each method might have a specific range of application, with implications that are not always clear to the end user. Here we will provide a concise overview on state-of-the-art computational methods for cell identity annotation in scRNA-seq, tailored for new users and non-computational scientists. To this end, we classify existing tools in five main categories, and discuss their key strengths, limitations and range of application.
No
English
Cell identity; Cell type annotation; RNAseq; ScRNAseq; Transcriptomics
Settore BIOS-08/A - Biologia molecolare
Review essay
Esperti anonimi
Pubblicazione scientifica
   National Center for Gene Therapy and Drugs based on RNA Technology (CN3 RNA)
   CN3 RNA
   MINISTERO DELL'UNIVERSITA' E DELLA RICERCA
   CN00000041

   ELIXIR x NextGenerationIT: Consolidamento dell'Infrastruttura Italiana per i Dati Omici e la Bioinformatica (ElixirxNextGenIT)
   ElixirxNextGenIT
   MINISTERO DELL'UNIVERSITA' E DELLA RICERCA
2025
gen-2025
Elsevier
27
1559
1569
11
Pubblicato
Periodico con rilevanza internazionale
orcid
Aderisco
info:eu-repo/semantics/article
Mapping Cell Identity from scRNA-seq: A primer on computational methods / D. Traversa, M. Chiara. - In: COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL. - ISSN 2001-0370. - 27:(2025), pp. 1559-1569. [10.1016/j.csbj.2025.03.051]
open
Prodotti della ricerca::01 - Articolo su periodico
2
262
Article (author)
Periodico con Impact Factor
D. Traversa, M. Chiara
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1166475
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