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Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance
Variants of Uncertain Significance (VUS) are genetic variants whose association with a disease phenotype has not been established. They are a common finding in sequencing-based genetic tests and pose a significant clinical challenge. The objective of this study was to assess the use of functional da...
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| 出版年: | NPJ Genom Med |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5539989/ https://ncbi.nlm.nih.gov/pubmed/28781887 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2016.1 |
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