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Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders
PURPOSE: Given the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalysing previously generated genomic sequence data in light of new knowledge. METHODS: We tested this hypothesis in the UK-wide Deciphering Develo...
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| 出版年: | Genet Med |
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| 主要な著者: | , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5912505/ https://ncbi.nlm.nih.gov/pubmed/29323667 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.246 |
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