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VariantMetaCaller: automated fusion of variant calling pipelines for quantitative, precision-based filtering

BACKGROUND: The low concordance between different variant calling methods still poses a challenge for the wide-spread application of next-generation sequencing in research and clinical practice. A wide range of variant annotations can be used for filtering call sets in order to improve the precision...

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Bibliografische gegevens
Gepubliceerd in:BMC Genomics
Hoofdauteurs: Gézsi, András, Bolgár, Bence, Marx, Péter, Sarkozy, Peter, Szalai, Csaba, Antal, Péter
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2015
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4625715/
https://ncbi.nlm.nih.gov/pubmed/26510841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-015-2050-y
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