Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study
Abstract Background Automation has been introduced into variant interpretation, but it is not known how automated variant interpretation performs on a stand‐alone basis. The purpose of this study was to evaluate a fully automated computerized approach. Method We reviewed all variants encountered in...
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| Автори: | , , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Wiley
2022-12-01
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| Серія: | Molecular Genetics & Genomic Medicine |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1002/mgg3.2085 |
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