Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

Aaron M. Wenger; Paul Peluso; William J. Rowell; Pi-Chuan Chang; Richard J. Hall; Gregory T. Concepcion; Jana Ebler; Arkarachai Fungtammasan; Alexey Kolesnikov; Nathan D. Olson; Armin Töpfer; Michael Alonge; Medhat Mahmoud; Yufeng Qian; Chen-Shan Chin; Adam M. Phillippy; Michael C. Schatz; Gene Myers; Mark A. DePristo; Jue Ruan; Tobias Marschall; Fritz J. Sedlazeck; Justin M. Zook; Heng Li; Sergey Koren; Andrew Carroll; David R. Rank; Michael W. Hunkapiller

doi:10.1101/519025

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Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

View ORCID ProfileAaron M. Wenger, Paul Peluso, View ORCID ProfileWilliam J. Rowell, Pi-Chuan Chang, Richard J. Hall, Gregory T. Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D. Olson, Armin Töpfer, Michael Alonge, View ORCID ProfileMedhat Mahmoud, View ORCID ProfileYufeng Qian, View ORCID ProfileChen-Shan Chin, Adam M. Phillippy, Michael C. Schatz, Gene Myers, Mark A. DePristo, View ORCID ProfileJue Ruan, Tobias Marschall, View ORCID ProfileFritz J. Sedlazeck, View ORCID ProfileJustin M. Zook, View ORCID ProfileHeng Li, Sergey Koren, Andrew Carroll, David R. Rank, Michael W. Hunkapiller

doi: https://doi.org/10.1101/519025

Aaron M. Wenger

1Pacific Biosciences, Menlo Park, CA, USA

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Paul Peluso

1Pacific Biosciences, Menlo Park, CA, USA

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William J. Rowell

1Pacific Biosciences, Menlo Park, CA, USA

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Pi-Chuan Chang

2Google Inc., Mountain View, CA, USA

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Richard J. Hall

1Pacific Biosciences, Menlo Park, CA, USA

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Gregory T. Concepcion

1Pacific Biosciences, Menlo Park, CA, USA

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Jana Ebler

3Center for Bioinformatics, Saarland University, Saarbrücken, Germany

4Max Planck Institute for Informatics, Saarland Informatics Campus E1.4, Saarbrücken, Germany

5Graduate School of Computer Science, Saarland University, Saarland Informatics Campus E1.3, Saarbrücken, Germany

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Arkarachai Fungtammasan

6DNAnexus, Mountain View, CA, USA

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Alexey Kolesnikov

2Google Inc., Mountain View, CA, USA

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Nathan D. Olson

7National Institute of Standards and Technology, Gaithersburg, MD, USA

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Armin Töpfer

1Pacific Biosciences, Menlo Park, CA, USA

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Michael Alonge

8Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA

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Medhat Mahmoud

9Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA

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Yufeng Qian

1Pacific Biosciences, Menlo Park, CA, USA

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Chen-Shan Chin

6DNAnexus, Mountain View, CA, USA

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Adam M. Phillippy

10Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, MD, USA

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Michael C. Schatz

8Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA

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Gene Myers

11Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany

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Mark A. DePristo

2Google Inc., Mountain View, CA, USA

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Jue Ruan

12Agricultural Genomics Institute, Chinese Academy of Agriculture Sciences, Shenzen, China

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Tobias Marschall

3Center for Bioinformatics, Saarland University, Saarbrücken, Germany

4Max Planck Institute for Informatics, Saarland Informatics Campus E1.4, Saarbrücken, Germany

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Fritz J. Sedlazeck

9Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA

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Justin M. Zook

7National Institute of Standards and Technology, Gaithersburg, MD, USA

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Heng Li

13Dana-Farber Cancer Institute, Boston, MA, USA

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Sergey Koren

10Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, Bethesda, MD, USA

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Andrew Carroll

2Google Inc., Mountain View, CA, USA

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David R. Rank

1Pacific Biosciences, Menlo Park, CA, USA

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For correspondence: mhunkapiller@pacb.com drank@pacb.com

Michael W. Hunkapiller

1Pacific Biosciences, Menlo Park, CA, USA

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For correspondence: mhunkapiller@pacb.com drank@pacb.com

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Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

Aaron M. Wenger, Paul Peluso, William J. Rowell, Pi-Chuan Chang, Richard J. Hall, Gregory T. Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D. Olson, Armin Töpfer, Michael Alonge, Medhat Mahmoud, Yufeng Qian, Chen-Shan Chin, Adam M. Phillippy, Michael C. Schatz, Gene Myers, Mark A. DePristo, Jue Ruan, Tobias Marschall, Fritz J. Sedlazeck, Justin M. Zook, Heng Li, Sergey Koren, Andrew Carroll, David R. Rank, Michael W. Hunkapiller

bioRxiv 519025; doi: https://doi.org/10.1101/519025

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