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Annotating pathogenic non-coding variants in genic regions
Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Tra...
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| 出版年: | Nat Commun |
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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 UK
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5550444/ https://ncbi.nlm.nih.gov/pubmed/28794409 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-00141-2 |
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