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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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Bibliografske podrobnosti
izdano v:Wellcome Open Res
Main Authors: Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Format: Artigo
Jezik:Inglês
Izdano: F1000 Research Limited 2018
Teme:
Online dostop: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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