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Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods
A high-confidence, comprehensive human variant set is critical in assessing accuracy of sequencing algorithms, which are crucial in precision medicine based on high-throughput sequencing. Although recent works have attempted to provide such a resource, they still do not encompass all major types of...
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| Publicat a: | Sci Rep |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4585973/ https://ncbi.nlm.nih.gov/pubmed/26412485 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep14493 |
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