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Extensive and deep sequencing of the Venter/HuRef genome for developing and benchmarking genome analysis tools

View ORCID ProfileBo Zhou, View ORCID ProfileJoseph G. Arthur, View ORCID ProfileSteve S. Ho, View ORCID ProfileReenal Pattni, Wing H. Wong, View ORCID ProfileAlexander E. Urban
doi: https://doi.org/10.1101/281709
Bo Zhou
1Department of Psychiatry and Behavioral Sciences, Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
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Joseph G. Arthur
2Department of Statistics, Department of Biomedical Data Science, Bio-X Program, Stanford University, Stanford, California 94305, USA
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Steve S. Ho
1Department of Psychiatry and Behavioral Sciences, Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
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Reenal Pattni
1Department of Psychiatry and Behavioral Sciences, Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
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Wing H. Wong
2Department of Statistics, Department of Biomedical Data Science, Bio-X Program, Stanford University, Stanford, California 94305, USA
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Alexander E. Urban
1Department of Psychiatry and Behavioral Sciences, Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
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  • For correspondence: aeurban@stanford.edu
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ABSTRACT

We produced an extensive collection of deep re-sequencing datasets for the Venter/HuRef genome using the Illumina massively-parallel DNA sequencing platform. The original Venter genome sequence is a very-high quality phased assembly based on Sanger sequencing. Therefore, researchers developing novel computational tools for the analysis of human genome sequence variation for the dominant Illumina sequencing technology can test and hone their algorithms by making variant calls from these Venter/HuRef datasets and then immediately confirm the detected variants in the Sanger assembly, freeing them of the need for further experimental validation. This process also applies to implementing and benchmarking existing genome analysis pipelines. We prepared and sequenced 200 bp and 350 bp short-insert whole-genome sequencing libraries (sequenced to 100x and 40x genomic coverages respectively) as well as 2 kb, 5 kb, and 12 kb mate-pair libraries (43x, 97x, and 122x physical coverages respectively). Lastly, we produced a linked-read library (133x physical coverage) from which we also performed haplotype phasing.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted May 11, 2018.
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Extensive and deep sequencing of the Venter/HuRef genome for developing and benchmarking genome analysis tools
Bo Zhou, Joseph G. Arthur, Steve S. Ho, Reenal Pattni, Wing H. Wong, Alexander E. Urban
bioRxiv 281709; doi: https://doi.org/10.1101/281709
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Extensive and deep sequencing of the Venter/HuRef genome for developing and benchmarking genome analysis tools
Bo Zhou, Joseph G. Arthur, Steve S. Ho, Reenal Pattni, Wing H. Wong, Alexander E. Urban
bioRxiv 281709; doi: https://doi.org/10.1101/281709

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