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Massively parallel sequencing and rare disease
Massively parallel sequencing has enabled the rapid, systematic identification of variants on a large scale. This has, in turn, accelerated the pace of gene discovery and disease diagnosis on a molecular level and has the potential to revolutionize methods particularly for the analysis of Mendelian...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2953741/ https://ncbi.nlm.nih.gov/pubmed/20846941 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq390 |
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