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Variant detection sensitivity and biases in whole genome and exome sequencing
BACKGROUND: Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations. Despite rapidly falling whole genome sequencing (WGS) costs, much research and increasingly the clinical use of sequence data is likely to remain...
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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: |
BioMed Central
2014
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4122774/ https://ncbi.nlm.nih.gov/pubmed/25038816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-247 |
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