Academic Journal
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
| Τίτλος: | Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort |
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| Συγγραφείς: | Kong, Sek WonAff1, Aff2, IDs4152502500480w_cor1, Lee, In-HeeAff1, Collen, Lauren V.Aff2, Aff3, Field, MichaelAff2, Aff3, Manrai, Arjun K.Aff4, Snapper, Scott B.Aff2, Aff3, Mandl, Kenneth D.Aff1, Aff2, Aff4 |
| Πηγή: | npj Genomic Medicine. 10(1) |
| Βάση Δεδομένων: | Springer Nature Journals |
| ISSN: | 20567944 |
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| DOI: | 10.1038/s41525-025-00480-w |