Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients

To evaluate seven bioinformatics platforms for automated AI-based genomic variant prioritization and classification.

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Bibliographic Details
Main Authors:	Bastida-Lertxundi Nerea, Martí-Carrera Itxaso, Laña-Ruíz Borja, Martínez-Múgica Barbosa Otilia, Muguerza-Iraola Raquel, Sáez-Villaverde Raquel, Crettaz Julien S.
Format:	Article
Language:	English
Published:	De Gruyter 2025-03-01
Series:	Advances in Laboratory Medicine
Subjects:	automated prioritization automated classification artificial intelligence whole exome tertiary analysis bioinformatics tool
Online Access:	https://doi.org/10.1515/almed-2025-0031
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