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Genome annotation for clinical genomic diagnostics: strengths and weaknesses
The Human Genome Project and advances in DNA sequencing technologies have revolutionized the identification of genetic disorders through the use of clinical exome sequencing. However, in a considerable number of patients, the genetic basis remains unclear. As clinicians begin to consider whole-genom...
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| 出版年: | Genome Med |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5448149/ https://ncbi.nlm.nih.gov/pubmed/28558813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0441-1 |
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