Deep structured learning for variant prioritization in Mendelian diseases

Effective computer-aided or automated variant evaluations for monogenic diseases will expedite clinical diagnostic and research efforts of known and novel disease-causing genes. Here we introduce MAVERICK: a Mendelian Approach to Variant Effect pRedICtion built in Keras. MAVERICK is an ensemble of t...

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Detalles Bibliográficos
Autores principales: Danzi, Matt C., Dohrn, Maike F., Fazal, Sarah, Beijer, Danique, Rebelo, Adriana P., Cintra, Vivian, Züchner, Stephan
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/PMC10345112/
https://www.ncbi.nlm.nih.gov/pubmed/37443090
http://dx.doi.org/10.1038/s41467-023-39306-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345112/
https://www.ncbi.nlm.nih.gov/pubmed/37443090
http://dx.doi.org/10.1038/s41467-023-39306-7

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