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Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context
As the use of next-generation sequencing (NGS) for the Mendelian diseases diagnosis is expanding, the performance of this method has to be improved in order to achieve higher quality. Typically, performance measures are considered to be designed in the context of each application and, therefore, acc...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868350/ https://www.ncbi.nlm.nih.gov/pubmed/31511888 http://dx.doi.org/10.1093/nar/gkz775 |