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ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series [version 2; referees: 2 approved]

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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Bibliografiske detaljer
Principais autores: Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman
Format: Artigo
Sprog:Inglês
Udgivet: Wellcome 2018-10-01
Serier:Wellcome Open Research
Online adgang:https://wellcomeopenresearch.org/articles/3-108/v2
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