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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...

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Veröffentlicht in:BMC Bioinformatics
Hauptverfasser: Molina-Mora, Jose Arturo, Solano-Vargas, Mariela
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2021
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7791862/
https://ncbi.nlm.nih.gov/pubmed/33413082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-020-03926-3
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