Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease
Objective: Whole Exome Sequencing (WES) is an effective diagnostic method for complicated and multi-system involved rare diseases. However, annotation and analysis of the WES result, especially for single case analysis still remain a challenge. Here, we introduce a method called phenotype-driven des...
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Автори: | , , , , , , |
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Формат: | Книга |
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Frontiers Media S.A.,
2019-01-01T00:00:00Z.
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A1234.567 |
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