Distribution and medical impact of loss-of-function variants in the Finnish founder population.

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Published in PLoS Genet on July 31, 2014

Authors

Elaine T Lim1, Peter Würtz2, Aki S Havulinna3, Priit Palta4, Taru Tukiainen5, Karola Rehnström6, Tõnu Esko7, Reedik Mägi8, Michael Inouye9, Tuuli Lappalainen10, Yingleong Chan11, Rany M Salem12, Monkol Lek5, Jason Flannick13, Xueling Sim14, Alisa Manning15, Claes Ladenvall16, Suzannah Bumpstead6, Eija Hämäläinen4, Kristiina Aalto17, Mikael Maksimow17, Marko Salmi18, Stefan Blankenberg19, Diego Ardissino20, Svati Shah21, Benjamin Horne22, Ruth McPherson23, Gerald K Hovingh24, Muredach P Reilly25, Hugh Watkins26, Anuj Goel26, Martin Farrall26, Domenico Girelli27, Alex P Reiner28, Nathan O Stitziel29, Sekar Kathiresan30, Stacey Gabriel15, Jeffrey C Barrett6, Terho Lehtimäki31, Markku Laakso32, Leif Groop16, Jaakko Kaprio33, Markus Perola34, Mark I McCarthy35, Michael Boehnke14, David M Altshuler13, Cecilia M Lindgren36, Joel N Hirschhorn12, Andres Metspalu8, Nelson B Freimer37, Tanja Zeller19, Sirpa Jalkanen18, Seppo Koskinen38, Olli Raitakari39, Richard Durbin6, Daniel G MacArthur5, Veikko Salomaa3, Samuli Ripatti40, Mark J Daly5, Aarno Palotie41, Sequencing Initiative Suomi (SISu) Project

Author Affiliations

1: Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, United States of America.
2: Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland; Computational Medicine, Institute of Health Sciences, University of Oulu, Oulu, Finland.
3: Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland.
4: Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
5: Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
6: Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
7: Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America; Estonian Genome Center, University of Tartu, Tartu, Estonia; Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Children's Hospital Boston, Boston, Massachusetts, United States of America.
8: Estonian Genome Center, University of Tartu, Tartu, Estonia.
9: Medical Systems Biology, Department of Pathology and Department of Microbiology & Immunology, The University of Melbourne, Parkville, Victoria, Australia.
10: Department of Genetics, Stanford University, Stanford, California, United States of America; Stanford Center for Computational, Evolutionary and Human Genomics, Stanford, California, United States of America.
11: Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, United States of America; Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Children's Hospital Boston, Boston, Massachusetts, United States of America.
12: Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Divisions of Endocrinology and Genetics and Center for Basic and Translational Obesity Research, Children's Hospital Boston, Boston, Massachusetts, United States of America.
13: Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
14: Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
15: Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America.
16: Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Lund University Diabetes Center, Department of Clinical Sciences, Diabetes & Endocrinology, Skåne University Hospital, Lund University, Malmö, Sweden.
17: MediCity, University of Turku, Turku, Finland.
18: Department of Medical Microbiology and Immunology, University of Turku and National Institute for Health and Welfare, Turku, Finland.
19: University Heart Centre Hamburg, Clinic for General and Interventional Cardiology, Hamburg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Hamburg, Germany.
20: Division of Cardiology, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy.
21: Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States of America.
22: Intermountain Heart Institute, Intermountain Medical Center, Salt Lake City, Utah, United States of America.
23: Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
24: Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
25: Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
26: Division of Cardiovascular Medicine, Radcliffe Department of Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
27: University of Verona School of Medicine, Department of Medicine, Verona, Italy.
28: Department of Epidemiology, University of Washington, Seattle, Washington, United States of America.
29: Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, United States of America.
30: Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
31: Department of Clinical Chemistry, Fimlab Laboratories, University of Tampere School of Medicine, Tampere, Finland.
32: Department of Medicine, University of Eastern Finland, Kuopio, Finland.
33: Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; University of Helsinki, Hjelt Institute, Dept of Public Health, Helsinki, Finland; National Institute for Health and Welfare, Dept of Mental Health and Substance Abuse Services, Helsinki, Finland.
34: Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
35: Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, United Kingdom; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Headington, Oxford, United Kingdom.
36: Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
37: University of California Los Angeles Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, United States of America.
38: Department of Health, Functional Capacity and Welfare, National Institute for Health and Welfare, Helsinki, Finland.
39: Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland; Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, Finland.
40: Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom; University of Helsinki, Hjelt Institute, Dept of Public Health, Helsinki, Finland; Department of Biometry, Hjelt Institute, University of Helsinki, Helsinki, Finland.
41: Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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