Evidence map›Paper›PMID 41566376›Full record

ArticleJournal of translational medicine2026

An open-source clinical bioinformatics pipeline for real-world NGS implementation: translating genomic variants into actionable treatment strategies in oncology.

Grete Francesca Privitera, Salvatore Alaimo, Giovanni Micale, Luca Giaimi, Marzia Mare, Sofia Paola Lombardo, Emanuele Martorana, Riccardo Villa, Alfredo Ferro, Stefano Forte and 1 more

Abstract read
In one paragraph

Article in Journal of translational medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Grete Francesca PriviteraDepartment of Clinical and Experimental Medicine, Bioinformatics Unit, University of Catania, Via Santa Sofia 89, 95123, Catania, Italy. grete.privitera@unict.it.
Salvatore AlaimoDepartment of Clinical and Experimental Medicine, Bioinformatics Unit, University of Catania, Via Santa Sofia 89, 95123, Catania, Italy. salvatore.alaimo@unict.it.
Giovanni MicaleDepartment of Clinical and Experimental Medicine, Bioinformatics Unit, University of Catania, Via Santa Sofia 89, 95123, Catania, Italy.
Luca GiaimiIstituto Oncologico del Mediterraneo, Via Penninazzo 7, 95029, Viagrande, Italy.
Marzia MareIstituto Oncologico del Mediterraneo, Via Penninazzo 7, 95029, Viagrande, Italy.
Sofia Paola LombardoIstituto Oncologico del Mediterraneo, Via Penninazzo 7, 95029, Viagrande, Italy.
Emanuele MartoranaIstituto Oncologico del Mediterraneo, Via Penninazzo 7, 95029, Viagrande, Italy.
Riccardo VillaIstituto Oncologico del Mediterraneo, Via Penninazzo 7, 95029, Viagrande, Italy.
Alfredo FerroDepartment of Clinical and Experimental Medicine, Bioinformatics Unit, University of Catania, Via Santa Sofia 89, 95123, Catania, Italy.
Stefano Forte *Istituto Oncologico del Mediterraneo, Via Penninazzo 7, 95029, Viagrande, Italy.
Alfredo Pulvirenti *Department of Clinical and Experimental Medicine, Bioinformatics Unit, University of Catania, Via Santa Sofia 89, 95123, Catania, Italy. alfredo.pulvirenti@unict.it.ORCID 0000-0002-9764-0295

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNext-Generation Sequencing (NGS) has become a cornerstone technology in clinical practice, yet its adoption presents significant challenges. Physicians and oncologists must manage vast amounts of genome-scale data and transform it into actionable insights for complex decision-making. While commercial systems exist to synthesize data from NGS experiments into clinical reports, many are hindered by limitations such as closed-source designs that restrict transparency and customization. Additionally, some fail to leverage publicly available genomic databases, missing opportunities to integrate valuable external data. Furthermore, the rigidity of many tools in accommodating diverse NGS panels limits their applicability across varied clinical scenarios.

methodsTo address these limitations, we developed OncoReport, an open-source tool that generates comprehensive reports from NGS analyses. By integrating publicly accessible databases, OncoReport provides a robust, user-friendly environment equipped with essential tools for NGS analysis. This design aims to enhance data interpretation and support informed clinical decision-making.

resultsRigorous testing has demonstrated OncoReport’s effectiveness in producing detailed, actionable reports that are clear and easy to use. By automating key aspects of the workflow, the tool significantly reduces manual effort and expedites the synthesis and interpretation of NGS results, making genomic insights more accessible to clinicians.

conclusionOncoReport offers a transparent, flexible, and efficient framework for clinicians to analyze and apply genomic data in patient care. By streamlining workflows and leveraging open-source principles, it empowers healthcare professionals to make informed, data-driven decisions. OncoReport is freely available at https://oncoreport.atlas.dmi.unict.it, with source code and issue tracking on GitHub: https://github.com/knowmics-lab/oncoreport .

Indexed as

Computational BiologyGenetic VariationGenomicsHigh-Throughput Nucleotide SequencingMedical OncologyNeoplasmsHumansSoftwareCancerDecision support systemsDrugsNext generation sequencingPersonalized medicine

Identifiers

PMID41566376
PMCPMC12905871

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.