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Set-theory based benchmarking of three different variant callers for targeted sequencing
BACKGROUND: Next generation sequencing (NGS) technologies have improved the study of hereditary diseases. Since the evaluation of bioinformatics pipelines is not straightforward, NGS demands effective strategies to analyze data that is of paramount relevance for decision making under a clinical scen...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7791862/ https://www.ncbi.nlm.nih.gov/pubmed/33413082 http://dx.doi.org/10.1186/s12859-020-03926-3 |