Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases
Summary: Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants. We describe our experience incorporating the ClinGen Gene-Disease Clinical Validity framework in our interpretation a...
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主要な著者: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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フォーマット: | 図書 |
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Elsevier,
2023-02-01T00:00:00Z.
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請求記号: |
A1234.567 |
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所蔵 1 | 利用可 |