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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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Dettagli Bibliografici
Pubblicato in:Wellcome Open Res
Autori principali: Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Natura: Artigo
Lingua:Inglês
Pubblicazione: F1000 Research Limited 2018
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Accesso online: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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