VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants.
Rare and ultra-rare genetic conditions are estimated to impact nearly 1 in 17 people worldwide, yet accurately pinpointing the diagnostic variants underlying each of these conditions remains a formidable challenge. Because comprehensive, in vivo functional assessment of all possible genetic variants...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Public Library of Science (PLoS)
2025-09-01
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| Serier: | PLoS Computational Biology |
| Online adgang: | https://doi.org/10.1371/journal.pcbi.1013414 |
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