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An open resource for accurately benchmarking small variant and reference calls
Benchmark small variant calls are required for developing, optimizing and assessing the performance of sequencing and bioinformatics methods. Here, as part of the Genome in a Bottle Consortium (GIAB), we apply a reproducible, cloud-based pipeline to integrate multiple short and linked read sequencin...
| Autores principales: | , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6500473/ https://www.ncbi.nlm.nih.gov/pubmed/30936564 http://dx.doi.org/10.1038/s41587-019-0074-6 |