Deep structured learning for variant prioritization in Mendelian diseases
Abstract 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 ense...
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| Главные авторы: | , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Portfolio
2023-07-01
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| Серии: | Nature Communications |
| Online-ссылка: | https://doi.org/10.1038/s41467-023-39306-7 |
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