Cited by 40Single-cell and spatial transcriptomicsGene expression and cancer classificationBioinformatics and Genomic Networks

Sparsely-connected autoencoder (SCA) for single cell RNAseq data mining

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Alessandri, Luca, Cordero, Francesca, Beccuti, Marco, Licheri, Nicola, Arigoni, Maddalena, Olivero, Martina, Di Renzo, Maria Flavia, Sapino, Anna +1 more·2021·npj Systems Biology and Applications

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Abstract

Single-cell RNA sequencing (scRNAseq) is an essential tool to investigate cellular heterogeneity. Thus, it would be of great interest being able to disclose biological information belonging to cell subpopulations, which can be defined by clustering analysis of scRNAseq data. In this manuscript, we report a tool that we developed for the functional mining of single cell clusters based on Sparsely-Connected Autoencoder (SCA). This tool allows uncovering hidden features associated with scRNAseq data. We implemented two new metrics, QCC (Quality Control of Cluster) and QCM (Quality Control of Model), which allow quantifying the ability of SCA to reconstruct valuable cell clusters and to evaluate the quality of the neural network achievements, respectively. Our data indicate that SCA encoded space, derived by different experimentally validated data (TF targets, miRNA targets, Kinase targets, and cancer-related immune signatures), can be used to grasp single cell cluster-specific functional features. In our implementation, SCA efficacy comes from its ability to reconstruct only specific clusters, thus indicating only those clusters where the SCA encoding space is a key element for cells aggregation. SCA analysis is implemented as module in rCASC framework and it is supported by a GUI to simplify it usage for biologists and medical personnel.

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  • Effective integration of healthcare data with molecular, genomic, disease-level, and drug-level knowledge can help generate more accurate and interpretable predictions about biological systems of health and disease.

    “Effective integration of healthcare data with knowledge about molecular, genomic, disease-level, and drug-level data can help generate more accurate and interpretable predictions about the biological systems of health and disease [224].”

    From Graph representation learning in biomedicine and healthcare (2022) · cites this paper as [224]

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Authors
Alessandri, L., Cordero, F., Beccuti, M., Licheri, N., Arigoni, M., Olivero, M., Di Renzo, M. F., Sapino, A., & Calogero, R.
Affiliations
  • University of Turin (IT)
  • Candiolo Cancer Institute (IT)
Corresponding author
Calogero, Raffaele
Venue
npj Systems Biology and Applications
Published
2021-01-05
Volume
7
Issue
1
Pages
1-1
ISSN
2056-7189 (ISSN-L)
OpenAlex
W3119638436
Cited by
40
References
51
Citations by year
2026: 2 · 2025: 3 · 2024: 3 · 2023: 5 · 2022: 15 · 2021: 12
FWCI
2.74
Type
journal article
Language
en
Open access
Locations
  • npj Systems Biology and Applications (publishedVersion, cc-by)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Single-cell and spatial transcriptomics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
Keywords
single-cell RNA sequencing, cell clustering, cell subpopulations, quality control metrics, miRNA target genes, kinase targets, cellular heterogeneity
MeSH terms
Exome Sequencing, Algorithms, Base Sequence, Humans, Software, Cluster Analysis, Neural Networks, Computer, Sequence Analysis, RNA, Systems Biology, Data Mining, Single-Cell Analysis

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