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      An Extensive Sequence Dataset of Gold-Standard Samples for Benchmarking and Development

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          Abstract

          Accurate standards and extensive development datasets are the foundation of technical progress. To facilitate benchmarking and development, we sequence 9 samples, covering the Genome in a Bottle truth sets on multiple instruments (NovaSeq, HiSeqX, HiSeq4000, PacBio Sequel II System) and sample preparations (PCR-Free, PCR-Positive) for both whole genome and multiple exome kits. We benchmark pipelines, quantifying strengths and limitations for sequencing and analysis methods. We identify variability within and between instruments, preparation methods, and analytical pipelines, across various sequencing depths. We discuss the relevance of this variability to downstream analyses, and strategies to reduce variability.

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          Journal
          bioRxiv
          December 11 2020
          Article
          10.1101/2020.12.11.422022
          7c297b3f-49e5-4166-916e-7b0af8b356a8
          © 2020

          Human biology,Genetics
          Human biology, Genetics

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