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Using high-resolution variant frequencies to empower clinical genome interpretation
View ORCID ProfileNicola Whiffin, Eric Minikel, View ORCID ProfileRoddy Walsh, View ORCID ProfileAnne O’Donnell-Luria, View ORCID ProfileKonrad Karczewski, Alexander Y Ing, View ORCID ProfilePaul JR Barton, Birgit Funke, View ORCID ProfileStuart A Cook, Daniel MacArthur, View ORCID ProfileJames S Ware
doi: https://doi.org/10.1101/073114
Nicola Whiffin
1National Heart & Lung Institute, Imperial College London
2NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield Hospitals & Imperial College London
Eric Minikel
3Analytic & Translational Genetics Unit, Massachusetts General Hospital, Boston MA
4Program in Medical and Population Genetics, Broad Institute of MIT & Harvard, Cambridge MA
Roddy Walsh
1National Heart & Lung Institute, Imperial College London
2NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield Hospitals & Imperial College London
Anne O’Donnell-Luria
3Analytic & Translational Genetics Unit, Massachusetts General Hospital, Boston MA
4Program in Medical and Population Genetics, Broad Institute of MIT & Harvard, Cambridge MA
Konrad Karczewski
3Analytic & Translational Genetics Unit, Massachusetts General Hospital, Boston MA
4Program in Medical and Population Genetics, Broad Institute of MIT & Harvard, Cambridge MA
Alexander Y Ing
5Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA
6Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston MA
Paul JR Barton
1National Heart & Lung Institute, Imperial College London
2NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield Hospitals & Imperial College London
Birgit Funke
6Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston MA
7Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge MA
Stuart A Cook
1National Heart & Lung Institute, Imperial College London
2NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield Hospitals & Imperial College London
8National Heart Centre Singapore, Singapore
9Duke-National University of Singapore, Singapore
Daniel MacArthur
3Analytic & Translational Genetics Unit, Massachusetts General Hospital, Boston MA
4Program in Medical and Population Genetics, Broad Institute of MIT & Harvard, Cambridge MA
10Department of Medicine, Harvard Medical School, Boston MA
James S Ware
1National Heart & Lung Institute, Imperial College London
2NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield Hospitals & Imperial College London
4Program in Medical and Population Genetics, Broad Institute of MIT & Harvard, Cambridge MA
11MRC Clinical Sciences Centre, Imperial College London
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Posted November 02, 2016.
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 JR Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur, James S Ware
bioRxiv 073114; doi: https://doi.org/10.1101/073114
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 JR Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur, James S Ware
bioRxiv 073114; doi: https://doi.org/10.1101/073114
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