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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Detalles Bibliográficos
Publicado en:Wellcome Open Res
Autores principales: Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Formato: Artigo
Lenguaje:Inglês
Publicado: F1000 Research Limited 2018
Materias:
Software Tool Article
Acceso en línea: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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