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Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
Andrea Ganna, F. Kyle Satterstrom, Seyedeh M Zekavat, Indraniel Das, Mitja I. Kurki, Claire Churchhouse, Jessica Alfoldi, Alicia R. Martin, Aki S. Havulinna, Andrea Byrnes, Wesley K. Thompson, Philip R. Nielsen, Konrad J. Karczewski, Elmo Saarentaus, Manuel A. Rivas, Namrata Gupta, Olli Pietiläinen, Connor A Emdin, Francesco Lescai, Jonas Bybjerg-Grauholm, Jason Flannick, on behalf of GoT2D/T2D-GENES consortium, Josep Mercader, Miriam Udlerg, on behalf of SIGMA consortium, Helmsley IBD Exome Sequencing Project, FinMetSeq Consortium, iPSYCH-Broad Consortium, Markku Laakso, Veikko Salomaa, Christina Hultman, Samuli Ripatti, Eija Hämäläinen, Jukka S Moilanen, Jarmo Körkkö, Outi Kuismin, Merete Nordentoft, David M. Hougaard, Ole Mors, Thomas Werge, Preben Bo Mortensen, Daniel MacArthur, Mark J. Daly, Patrick F. Sullivan, Adam E. Locke, Aarno Palotie, Anders D. Børglum, Sekar Kathiresan, Benjamin M. Neale
doi: https://doi.org/10.1101/148247
Andrea Ganna
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
4Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
F. Kyle Satterstrom
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Seyedeh M Zekavat
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Center for Genomic Medicine, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, MA, USA.
Indraniel Das
6McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
7Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA.
Mitja I. Kurki
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
8Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland.
Claire Churchhouse
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jessica Alfoldi
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Alicia R. Martin
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Aki S. Havulinna
8Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland.
16Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA.
Andrea Byrnes
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wesley K. Thompson
9Department of Psychiatry, University of California, San Diego, USA.
10Institute of Biological Psychiatry, MHC Sct. Hans, Mental Health Services Copenhagen, Roskilde, Denmark.
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
12KG Jebsen Centre for Psychosis Research, Norway Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Philip R. Nielsen
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
13National Centre for Register-based Research, School of Business and Social Sciences, Aarhus University, Aarhus, Denmark.
14Centre for Integrated Register-based Research, Aarhus University, Aarhus, Denmark.
Konrad J. Karczewski
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Elmo Saarentaus
8Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland.
Manuel A. Rivas
15Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Namrata Gupta
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Olli Pietiläinen
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
16Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA.
Connor A Emdin
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Francesco Lescai
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
17iSEQ, Center for Integrative Sequencing, Aarhus University, Aarhus, Denmark
18Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark.
Jonas Bybjerg-Grauholm
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
19Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark
Jason Flannick
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Center for Genomic Medicine, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, MA, USA.
Josep Mercader
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Center for Genomic Medicine, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, MA, USA.
Miriam Udlerg
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Center for Genomic Medicine, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, MA, USA.
Markku Laakso
20Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland
Veikko Salomaa
21Department of Health, THL-National Institute for Health and Welfare, Helsinki, Finland.
Christina Hultman
4Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Samuli Ripatti
8Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland.
22Department of Public Health, University of Helsinki, Helsinki, Finland.
23Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Eija Hämäläinen
8Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland.
Jukka S Moilanen
24Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland
Jarmo Körkkö
24Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland
Outi Kuismin
24Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland
Merete Nordentoft
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
25Mental Health Services in the Capital Region of Denmark, Mental Health Center Copenhagen, University of Copenhagen, Copenhagen, Denmark.
David M. Hougaard
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
19Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark
Ole Mors
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
26Psychosis Research Unit, Aarhus University Hospital, Risskov, Denmark.
Thomas Werge
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
10Institute of Biological Psychiatry, MHC Sct. Hans, Mental Health Services Copenhagen, Roskilde, Denmark.
27Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Preben Bo Mortensen
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
13National Centre for Register-based Research, School of Business and Social Sciences, Aarhus University, Aarhus, Denmark.
14Centre for Integrated Register-based Research, Aarhus University, Aarhus, Denmark.
17iSEQ, Center for Integrative Sequencing, Aarhus University, Aarhus, Denmark
Daniel MacArthur
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mark J. Daly
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Patrick F. Sullivan
4Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
28Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA.
Adam E. Locke
6McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
7Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA.
Aarno Palotie
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
8Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland.
Anders D. Børglum
11The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
17iSEQ, Center for Integrative Sequencing, Aarhus University, Aarhus, Denmark
18Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark.
Sekar Kathiresan
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Center for Genomic Medicine, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, MA, USA.
Benjamin M. Neale
1Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Article usage
Posted June 09, 2017.
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
Andrea Ganna, F. Kyle Satterstrom, Seyedeh M Zekavat, Indraniel Das, Mitja I. Kurki, Claire Churchhouse, Jessica Alfoldi, Alicia R. Martin, Aki S. Havulinna, Andrea Byrnes, Wesley K. Thompson, Philip R. Nielsen, Konrad J. Karczewski, Elmo Saarentaus, Manuel A. Rivas, Namrata Gupta, Olli Pietiläinen, Connor A Emdin, Francesco Lescai, Jonas Bybjerg-Grauholm, Jason Flannick, on behalf of GoT2D/T2D-GENES consortium, Josep Mercader, Miriam Udlerg, on behalf of SIGMA consortium, Helmsley IBD Exome Sequencing Project, FinMetSeq Consortium, iPSYCH-Broad Consortium, Markku Laakso, Veikko Salomaa, Christina Hultman, Samuli Ripatti, Eija Hämäläinen, Jukka S Moilanen, Jarmo Körkkö, Outi Kuismin, Merete Nordentoft, David M. Hougaard, Ole Mors, Thomas Werge, Preben Bo Mortensen, Daniel MacArthur, Mark J. Daly, Patrick F. Sullivan, Adam E. Locke, Aarno Palotie, Anders D. Børglum, Sekar Kathiresan, Benjamin M. Neale
bioRxiv 148247; doi: https://doi.org/10.1101/148247
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
Andrea Ganna, F. Kyle Satterstrom, Seyedeh M Zekavat, Indraniel Das, Mitja I. Kurki, Claire Churchhouse, Jessica Alfoldi, Alicia R. Martin, Aki S. Havulinna, Andrea Byrnes, Wesley K. Thompson, Philip R. Nielsen, Konrad J. Karczewski, Elmo Saarentaus, Manuel A. Rivas, Namrata Gupta, Olli Pietiläinen, Connor A Emdin, Francesco Lescai, Jonas Bybjerg-Grauholm, Jason Flannick, on behalf of GoT2D/T2D-GENES consortium, Josep Mercader, Miriam Udlerg, on behalf of SIGMA consortium, Helmsley IBD Exome Sequencing Project, FinMetSeq Consortium, iPSYCH-Broad Consortium, Markku Laakso, Veikko Salomaa, Christina Hultman, Samuli Ripatti, Eija Hämäläinen, Jukka S Moilanen, Jarmo Körkkö, Outi Kuismin, Merete Nordentoft, David M. Hougaard, Ole Mors, Thomas Werge, Preben Bo Mortensen, Daniel MacArthur, Mark J. Daly, Patrick F. Sullivan, Adam E. Locke, Aarno Palotie, Anders D. Børglum, Sekar Kathiresan, Benjamin M. Neale
bioRxiv 148247; doi: https://doi.org/10.1101/148247
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