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GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data
BACKGROUND: NGS technology represents a powerful alternative to the standard Sanger sequencing in the context of clinical setting. The proprietary software that are generally used for variant calling often depend on preset parameters that may not fit in a satisfactory manner for different genes. GAT...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374681/ https://www.ncbi.nlm.nih.gov/pubmed/28361668 http://dx.doi.org/10.1186/s12859-017-1537-8 |