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...

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Detalles Bibliográficos
Autores principales: Alsentzer, Emily, Finlayson, Samuel G., Li, Michelle M., Kobren, Shilpa N., Kohane, Isaac S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
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

Internet

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

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