Multi-Platform Assessment of DNA Sequencing Performance using Human and Bacterial Reference Genomes in the ABRF Next-Generation Sequencing Study
Scott W Tighe,
Charles M Nicolet,
Justin M Zook,
Wayne E. Clarke,
Michael M Khayat,
Phoebe K Laaguiby,
Zachary T Herbert,
George S Grills,
Shawn E. Levy,
Gary P Schroth,
Fritz J. Sedlazeck,
Don A Baldwin,
Christopher E Mason
Posted 24 Jul 2020
bioRxiv DOI: 10.1101/2020.07.23.218602
Posted 24 Jul 2020
Massively parallel DNA sequencing is a critical tool for genomics research and clinical diagnostics. Here, we describe the Association of Biomolecular Resource Facilities (ABRF) Next-Generation Sequencing Phase II Study to measure quality and reproducibility of DNA sequencing. Replicates of human and bacterial reference DNA samples were generated across multiple sequencing platforms, including well-established technologies such as Illumina, ThermoFisher Ion Torrent, and Pacific Biosciences, as well as emerging technologies such as BGI, Genapsys, and Oxford Nanopore. A total of 202 datasets were generated to investigate the performance of a total of 16 sequencing platforms, including mappability of reads, coverage and error rates in difficult genomic regions, and detection of small-scale polymorphisms and large-scale structural variants. This study provides a comprehensive baseline resource for continual benchmarking as chemistries, methods, and platforms evolve for DNA sequencing. ### Competing Interest Statement G.P.S is employed by Illumina Inc. All other authors declare no competing financial interests.
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