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Cavalleri, E.

Publications and source records attributed to Cavalleri, E..

4 recordsLinked to original sources

RNAcentral in 2026: Genes and literature integration

RNAcentral was founded in 2014 to serve as a comprehensive database of non-coding RNA sequences. It began by providing a single unified interface to more specialised resources, and now contains 45 million sequences. It has grown beyond providing a single interface to many specialised resources and now provides several services and analyses. These include secondary structure prediction with R2DT, sequence search, and analysis with Rfam. Since its last publication in 2021, RNAcentral has developed two major features. First, literature integration with the development of LitScan and LitSumm. LitScan automatically identifies and links relevant publications to RNA entries, while LitSumm uses natural language processing to generate functional summaries from the literature. Together, these tools address the critical challenge of connecting sequence data with scattered functional knowledge across thousands of publications. Secondly, RNAcentral has created gene level entries. Gene level entries represent a large structural change to RNAcentral. While RNAcentral previously organized data exclusively at the sequence level, we now group related transcripts into gene-centric views. This allows researchers to explore all isoforms, splice variants, and related sequences for a gene in a unified interface, better reflecting biological organization and facilitating comparative analyses. RNAcentral is freely available at: https://rnacentral.org.

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RNA Knowledge-Graph analysis through homogeneous embedding methods

MotivationWe recently introduced RNA-KG, an ontology-based knowledge graph that integrates biological data on RNAs from over 60 public databases. RNA-KG captures functional relationships and interactions between RNA molecules and other biomolecules, chemicals, and biomedical concepts such as diseases and phenotypes, all represented within graph-structured bio-ontologies. We present the first comprehensive computational analysis of RNA-KG, evaluating the potential of graph representation learning and machine learning models to predict node types and edges within the graph. ResultsWe performed node classification experiments to predict up to 81 distinct node types, and performed both generic and specific edge prediction tasks. Generic edge prediction focused on identifying the presence of an edge irrespective of its type, while specific edge prediction targeted specific interactions between ncRNAs, e.g. miRNA-miRNA or siRNA-mRNA, or relationships between ncRNA and biomedical concepts, e.g. miRNA-disease or lncRNA-Gene Ontology term relationships. Using embedding methods for homogeneous graphs, such as LINE and node2vec, in combination with machine learning models like decision trees and random forests, we achieved balanced accuracy exceeding 90% for the 20 most common node types and over 80% for most specific edge prediction tasks. These results show that simple embedding methods for homogeneous graphs can successfully predict nodes and edges of the RNA-KG, paving the way to discover novel ncRNA interactions and laying the foundation for further exploration and utilization of this rich information source to enhance prediction accuracy and support further research into the "RNA world". Code AvailabilityPython code to reproduce the experiments is available at https://github.com/AnacletoLAB/RNA-KG_homogeneous_emb_analysis

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Fine-tuning of conditional Transformers for the generation of functionally characterized enzymes

We introduce Finenzyme, a Protein Language Model (PLM) that employs a multifaceted learning strategy based on transfer learning from a decoder-based Transformer, conditional learning using specific functional keywords, and fine-tuning to model specific Enzyme Commission (EC) categories. Using Finenzyme, we investigate the conditions under which fine-tuning enhances the prediction and generation of EC categories, showing a two-fold perplexity improvement in EC-specific categories compared to a generalist model. Our extensive experimentation shows that Finenzyme generated sequences can be very different from natural ones while retaining similar tertiary structures, functions and chemical kinetics of their natural counterparts. Importantly, the embedded representations of the generated enzymes closely resemble those of natural ones, thus making them suitable for downstream tasks. Finally, we illustrate how Finenzyme can be used in practice to generate enzymes characterized by specific functions using in-silico directed evolution, a computationally inexpensive PLM fine-tuning procedure significantly enhancing and assisting targeted enzyme engineering tasks.

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Intrinsic-Dimension analysis for guiding dimensionality reduction and data fusion in multi-omics data processing

The advent of high-throughput sequencing technologies has revolutionized the field of multi-omics patient data analysis. While these techniques offer a wealth of information, they often generate datasets with dimensions far surpassing the number of available cases. This discrepancy in size gives rise to the challenging "small-sample-size" problem, significantly compromising the reliability of any subsequent estimate, whether supervised or unsupervised. This calls for effective dimensionality reduction techniques to transform high-dimensional datasets into lower-dimensional spaces, making the data manageable and facilitating subsequent analyses. Unfortunately, the definition of a proper di-mensionality reduction pipeline is not an easy task; besides the problem of identifying the best dimensionality reduction method, the definition of the dimension of the lower-dimensional space into which each dataset should be transformed is a crucial issue that influences all the subsequent analyses and should therefore be carefully considered. Further, the availability of multi-modal data calls for proper data-fusion techniques to produce an integrated patient-view into which redundant information is removed while salient and complementary information across views is leveraged to improve the performance and reliability of both unsupervised and supervised learning techniques. This paper proposes leveraging the intrinsic dimensionality of each view in a multi-modal dataset to define the dimensionality of the lower-dimensional space where the view is transformed by dimensionality reduction algorithms. Further, it presents a thorough experimental study that compares the traditional application of a unique-step of dimensionality reduction with a two-step approach, involving a prior feature selection followed by feature extraction. Through this comparative evaluation, we scrutinize the performance of widely used dimensionality reduction algorithms. Importantly, we also investigate their impact on unsupervised data-fusion techniques, which are pivotal in biomedical research. Our findings shed light on the most effective strategies for handling high-dimensional multi-omics patient data, offering valuable insights for future studies in this domain. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=159 HEIGHT=200 SRC="FIGDIR/small/576822v1_ufig1.gif" ALT="Figure 1"> View larger version (56K): org.highwire.dtl.DTLVardef@c39539org.highwire.dtl.DTLVardef@79f681org.highwire.dtl.DTLVardef@1269fcforg.highwire.dtl.DTLVardef@c5e31d_HPS_FORMAT_FIGEXP M_FIG C_FIG HighlightsO_LIWe introduce a flexible pipeline to guide in a principled way feature selection and feature extraction methods to reduce the high dimensions and to contrast the curse of dimensionality that affects multi-omics data. C_LIO_LIWe harness the power of cutting-edge Intrinsic Dimensionality (id) estimation through block-analysis, providing an unbiased estimation of the individual ids for each view within a multi-modal dataset. C_LIO_LIWe use an exhaustive set of diverse multi-omics cancer datasets from the well-known TCGA dataset to show that the automatic analysis of the distribution of the block-ids characterizing each omics-view leverages dimensionality reduction, by (1) evidencing feature noise and redundancy, and (2) providing an unbiased estimate of the id for each view, to be used for setting the dimension of the reduced space. This avoids empirical or heuristic choices and allows tailoring the reduction to each data-view. C_LIO_LIThe crucial information gained by block-analysis allowed proposing a two-step dimensionality-reduction approach combining feature selection and feature extraction. Our comparative evaluation shows the effectiveness of the proposed technique and its synergy with state-of-the-art data-fusion techniques applied in a multi-omics context. C_LIO_LIWe show that the proposed reduction pipeline leverages traditional dimensionality reduction and state-of-the-art data-fusion algorithms. Indeed, it obtains effective performance when predicting overall survival events with simple random forest classifiers, often preferred in the biomedical field due to their robustness, efficiency, and interpretable nature. C_LI

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