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Using high-resolution variant frequencies to empower clinical genome interpretation

View ORCID ProfileNicola Whiffin, Eric Minikel, Roddy Walsh, View ORCID ProfileAnne O'Donnell-Luria, View ORCID ProfileKonrad Karczewski, Alexander Y Ing, View ORCID ProfilePaul J R Barton, Birgit Funke, View ORCID ProfileStuart A Cook, Daniel G MacArthur, James S Ware
doi: https://doi.org/10.1101/073114
Nicola Whiffin
Imperial College London;
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Eric Minikel
Broad Institute of MIT and Harvard;
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Roddy Walsh
Imperial College London;
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Anne O'Donnell-Luria
Broad Institute of MIT and Harvard;
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Konrad Karczewski
Analytic and Translational Genetics Unit;
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  • ORCID record for Konrad Karczewski
Alexander Y Ing
Laboratory for Molecular Medicine;
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Paul J R Barton
Imperial College London;
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Birgit Funke
Laboratory for Molecular Medicine;
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Stuart A Cook
Imperial College London;
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Daniel G MacArthur
Massachusetts General Hospital
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James S Ware
Imperial College London;
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  • For correspondence: j.ware@imperial.ac.uk
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Article Information

doi 
https://doi.org/10.1101/073114
History 
  • September 2, 2016.

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  • You are currently viewing an older version of this article (September 2, 2016 - 13:50).
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Copyright 
The copyright holder for this preprint is the author/funder. It is made available under a CC-BY-NC-ND 4.0 International license.

Author Information

  1. Nicola Whiffin1 (n.whiffin{at}csc.mrc.ac.uk),
  2. Eric Minikel2 (eminikel{at}broadinstitute.org),
  3. Roddy Walsh1 (r.walsh{at}imperial.ac.uk),
  4. Anne O'Donnell-Luria2 (anne.odonnell{at}childrens.harvard.edu),
  5. Konrad Karczewski3 (konradk{at}broadinstitute.org),
  6. Alexander Y Ing4 (aing{at}partners.org),
  7. Paul J R Barton1 (p.barton{at}imperial.ac.uk) (http://www.imperial.ac.uk/people/p.barton),
  8. Birgit Funke4 (bfunke{at}partners.org),
  9. Stuart A Cook1 (stuart.cook{at}csc.mrc.ac.uk),
  10. Daniel G MacArthur5 (macarthur{at}atgu.mgh.harvard.edu) and
  11. James S Ware1,6 (j.ware{at}imperial.ac.uk)
  1. 1 Imperial College London;
  2. 2 Broad Institute of MIT and Harvard;
  3. 3 Analytic and Translational Genetics Unit;
  4. 4 Laboratory for Molecular Medicine;
  5. 5 Massachusetts General Hospital
  1. ↵* Corresponding author; email: j.ware{at}imperial.ac.uk
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  • Posted September 2, 2016.

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Using high-resolution variant frequencies to empower clinical genome interpretation
Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne O'Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel G MacArthur, James S Ware
bioRxiv 073114; doi: https://doi.org/10.1101/073114
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Using high-resolution variant frequencies to empower clinical genome interpretation
Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne O'Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel G MacArthur, James S Ware
bioRxiv 073114; doi: https://doi.org/10.1101/073114

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