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Cisterna Garcia, A.

Publications and source records attributed to Cisterna Garcia, A..

2 recordsLinked to original sources

Antimicrobial peptide databases and prediction tools: Toward a standard evaluation framework

Antimicrobial resistance (AMR) has a profound impact on animal and human health and is associated with substantial morbidity, mortality and public health costs. There is a clear need to develop novel, effective antibiotic agents, which can overcome the current AMR crisis. Antimicrobial peptides (AMPs) may offer such a solution and have attracted growing attention for their potential to combat AMR. In parallel, the growing availability of peptide sequences in public databases has stimulated the development of numerous machine learning and deep learning tools to predict antimicrobial activity computationally. However, it remains unclear how reliably these tools can be compared, as existing studies often rely on heterogeneous datasets and inconsistent evaluation protocols that may lead to data leakage and inflated performance estimates. This raises a central question: what evaluation criteria and benchmark resources are needed to enable fair, reproducible, and biologically meaningful assessment of AMP prediction tools? We address this question by focusing specifically on antibacterial peptides (ABPs). We first provide an overview of AMP databases relevant to antibacterial activity and compare their content, redundancy, and experimental metadata. We then critically assess existing computational tools for ABP prediction, highlighting key limitations related to dataset construction, affinity to certain sequences, data leakage, and inconsistent performance reporting. Based on these limitations, we propose a reference evaluation framework designed to improve comparability, reproducibility, and practical utility in ABP prediction. Finally, we provide targeted recommendations for AMP databases and future tool development to support more robust progress in the computational discovery of ABPs.

bioinformatics↗

PhenoExam: an R package and Web application for the examination of phenotypes linked to genes and gene sets

Gene set based phenotype enrichment analysis (detecting phenotypic terms that emerge as significant in a set of genes) can improve the rate of genetic diagnoses amongst other research purposes. To facilitate diverse phenotype analysis, we developed PhenoExam, a freely available R package for tool developers and a web interface for users, which performs: (1) phenotype and disease enrichment analysis on a gene set; (2) measures statistically significant phenotype similarities between gene sets and (3) detects significant differential phenotypes or disease terms across different databases. PhenoExam achieves these tasks by integrating databases or resources such as the HPO, MGD, CRISPRbrain, CTD, ClinGen, CGI, OrphaNET, UniProt, PsyGeNET, and Genomics England Panel App. PhenoExam accepts both human and mouse genes as input. We developed PhenoExam to assist a variety of users, including clinicians, computational biologists and geneticists. It can be used to support the validation of new gene-to-disease discoveries, and in the detection of differential phenotypes between two gene sets (a phenotype linked to one of the gene set but no to the other) that are useful for differential diagnosis and to improve genetic panels. We validated PhenoExam performance through simulations and its application to real cases. We demonstrate that PhenoExam is effective in distinguishing gene sets or Mendelian diseases with very similar phenotypes through projecting the disease-causing genes into their annotation-based phenotypic spaces. We also tested the tool with early onset Parkinsons disease and dystonia genes, to show phenotype-level similarities but also potentially interesting differences. More specifically, we used PhenoExam to validate computationally predicted new genes potentially associated with epilepsy. Therefore, PhenoExam effectively discovers links between phenotypic terms across annotation databases through effective integration. The R package is available at https://github.com/alexcis95/PhenoExam and the Web tool is accessible at https://snca.atica.um.es/PhenoExamWeb/.

bioinformatics↗