ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed in a consistent, transparent and reproducible fashion, using independently, ort...

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Dades bibliogràfiques
Publicat a:Wellcome Open Res
Autors principals: Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Format: Artigo
Idioma:Inglês
Publicat: F1000 Research Limited 2018
Matèries:
Software Tool Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6234721/
https://ncbi.nlm.nih.gov/pubmed/30483600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.14754.2
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