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...

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Detalles Bibliográficos
Autores principales: Molina-Mora, Jose Arturo, Solano-Vargas, Mariela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Methodology Article
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

Internet

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

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