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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| Main Authors: | Bastida-Lertxundi Nerea, Martí-Carrera Itxaso, Laña-Ruíz Borja, Martínez-Múgica Barbosa Otilia, Muguerza-Iraola Raquel, Sáez-Villaverde Raquel, Crettaz Julien S. |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2025-03-01
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| Series: | Advances in Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/almed-2025-0031 |
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