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Simulation of undiagnosed patients with novel genetic conditions
Rare Mendelian disorders pose a major diagnostic challenge and collectively affect 300–400 million patients worldwide. Many automated tools aim to uncover causal genes in patients with suspected genetic disorders, but evaluation of these tools is limited due to the lack of comprehensive benchmark da...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10570269/ https://www.ncbi.nlm.nih.gov/pubmed/37828001 http://dx.doi.org/10.1038/s41467-023-41980-6 |