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Effective variant filtering and expected candidate variant yield in studies of rare human disease

View ORCID ProfileBrent S. Pedersen, View ORCID ProfileJoe M. Brown, View ORCID ProfileHarriet Dashnow, Amelia D. Wallace, View ORCID ProfileMatt Velinder, Tatiana Tvrdik, Rong Mao, View ORCID ProfileD. Hunter Best, View ORCID ProfilePinar Bayrak-Toydemir, View ORCID ProfileAaron R. Quinlan
doi: https://doi.org/10.1101/2020.08.13.249532
Brent S. Pedersen
1Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
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  • ORCID record for Brent S. Pedersen
Joe M. Brown
1Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
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Harriet Dashnow
1Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
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Amelia D. Wallace
1Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
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Matt Velinder
1Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
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Tatiana Tvrdik
4Department of Pathology, University of Utah, Salt Lake City, Utah, USA
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Rong Mao
4Department of Pathology, University of Utah, Salt Lake City, Utah, USA
6ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA
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D. Hunter Best
4Department of Pathology, University of Utah, Salt Lake City, Utah, USA
5Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
6ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA
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Pinar Bayrak-Toydemir
4Department of Pathology, University of Utah, Salt Lake City, Utah, USA
6ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA
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Aaron R. Quinlan
1Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
2Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah, USA
3Utah Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA
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  • For correspondence: aaronquinlan@gmail.com
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Article Information

doi 
https://doi.org/10.1101/2020.08.13.249532
History 
  • August 26, 2020.

Article Versions

  • Version 1 (August 14, 2020 - 07:18).
  • Version 2 (August 14, 2020 - 15:09).
  • You are viewing Version 3, the most recent version of this article.
Copyright 
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 4.0 International license.

Author Information

  1. Brent S. Pedersen1,
  2. Joe M. Brown1,
  3. Harriet Dashnow1,
  4. Amelia D. Wallace1,
  5. Matt Velinder1,
  6. Tatiana Tvrdik4,
  7. Rong Mao4,6,
  8. D. Hunter Best4,5,6,
  9. Pinar Bayrak-Toydemir4,6 and
  10. Aaron R. Quinlan1,2,3,*
  1. 1Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
  2. 2Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah, USA
  3. 3Utah Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA
  4. 4Department of Pathology, University of Utah, Salt Lake City, Utah, USA
  5. 5Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
  6. 6ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA
  1. ↵*Corresponding author; email: aaronquinlan{at}gmail.com
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Posted August 26, 2020.
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Effective variant filtering and expected candidate variant yield in studies of rare human disease
Brent S. Pedersen, Joe M. Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pinar Bayrak-Toydemir, Aaron R. Quinlan
bioRxiv 2020.08.13.249532; doi: https://doi.org/10.1101/2020.08.13.249532
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Effective variant filtering and expected candidate variant yield in studies of rare human disease
Brent S. Pedersen, Joe M. Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pinar Bayrak-Toydemir, Aaron R. Quinlan
bioRxiv 2020.08.13.249532; doi: https://doi.org/10.1101/2020.08.13.249532

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