Clinical bioinformatics desiderata for molecular tumor boards.

biobanking clinical bioinformatics clinical informatics data engineering decision support tools molecular tumor board molecular tumor registry variant actionability variant annotation

Journal

Briefings in bioinformatics
ISSN: 1477-4054
Titre abrégé: Brief Bioinform
Pays: England
ID NLM: 100912837

Informations de publication

Date de publication:
25 Jul 2024
Historique:
received: 18 12 2023
revised: 28 06 2024
accepted: 30 08 2024
medline: 22 9 2024
pubmed: 22 9 2024
entrez: 19 9 2024
Statut: ppublish

Résumé

Clinical Bioinformatics is a knowledge framework required to interpret data of medical interest via computational methods. This area became of dramatic importance in precision oncology, fueled by cancer genomic profiling: most definitions of Molecular Tumor Boards require the presence of bioinformaticians. However, all available literature remained rather vague on what are the specific needs in terms of digital tools and expertise to tackle and interpret genomics data to assign novel targeted or biomarker-driven targeted therapies to cancer patients. To fill this gap, in this article, we present a catalog of software families and human skills required for the tumor board bioinformatician, with specific examples of real-world applications associated with each element presented.

Identifiants

pubmed: 39297878
pii: 7761956
doi: 10.1093/bib/bbae447
pii:
doi:

Substances chimiques

Biomarkers, Tumor 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Italian Ministry of Health
ID : J47G22000300001
Organisme : European Union
Organisme : Italian NRRP
ID : IR0000031

Informations de copyright

© The Author(s) 2024. Published by Oxford University Press.

Auteurs

Matteo Pallocca (M)

Institute of Experimental Endocrinology and Oncology, National Research Council, Via Sergio Pansini, 5, 80131 Naples, Italy.

Martina Betti (M)

Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi, 53, 00144 Rome, Italy.

Sara Baldinelli (S)

Biostatistics, Bioinformatics and Clinical Trial Center, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi, 53, 00144 Rome, Italy.

Ramona Palombo (R)

Institute of Experimental Endocrinology and Oncology, National Research Council, Via Sergio Pansini, 5, 80131 Naples, Italy.

Gabriele Bucci (G)

Center for OMICS Sciences, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132 Milan, Italy.

Luca Mazzarella (L)

Division of Gastrointestinal Medical Oncology and Neuroendocrine Tumors, IRCCS IEO - European Institute of Oncology, Via Adamello 16, 20139 Milan, Italy.
Department of Experimental Oncology, IRCCS IEO - European Institute of Oncology, Via Adamello 16, 20139 Milan, Italy.

Giovanni Tonon (G)

Functional Genomics of Cancer Unit, Division of Experimental Oncology, and Center for Omics Sciences, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132 Milan, Italy.

Gennaro Ciliberto (G)

Scientific Direction, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi, 53, 00144 Rome, Italy.

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Classifications MeSH