Data di Pubblicazione:
2024
Citazione:
Clinical bioinformatics desiderata for molecular tumor boards / Pallocca, M., Betti, M., Baldinelli, S., Palombo, R., Bucci, G., Mazzarella, L., Tonon, G., Ciliberto, G.. - In: BRIEFINGS IN BIOINFORMATICS. - ISSN 1467-5463. - 25:5(2024). [10.1093/bib/bbae447]
Abstract:
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.
Tipologia CRIS:
1.1.1 Articolo in rivista - Review
Keywords:
biobanking; clinical bioinformatics; clinical informatics; data engineering; decision support tools; molecular tumor board; molecular tumor registry; variant actionability; variant annotation
Elenco autori:
Pallocca, M.; Betti, M.; Baldinelli, S.; Palombo, R.; Bucci, G.; Mazzarella, L.; Tonon, G.; Ciliberto, G.
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