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Evaluation of an optimized germline exomes pipeline using BWA-MEM2 and Dragen-GATK tools
The next-generation sequencing (NGS) technology represents a significant advance in genomics and medical diagnosis. Nevertheless, the time it takes to perform sequencing, data analysis, and variant interpretation is a bottleneck in using next-generation sequencing in precision medicine. For accurate...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10399881/ https://www.ncbi.nlm.nih.gov/pubmed/37535628 http://dx.doi.org/10.1371/journal.pone.0288371 |