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Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients
View ORCID ProfileSali M.K. Farhan, Daniel P. Howrigan, Liam E. Abbott, Andrea E. Byrnes, Claire Churchhouse, Hemali Phatnani, Bradley N. Smith, Simon D. Topp, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Amelie Gubitz, Joseph R. Klim, Daniel A. Mordes, Sulagna Ghosh, CReATe Consortium, FALS Consortium, ALSGENS Consortium, Kevin Eggan, Rosa Rademakers, Jacob L. McCauley, Rebecca Schüle, Stephan Züchner, Michael Benatar, J. Paul Taylor, Mike A. Nalls, Bryan Traynor, Christopher E. Shaw, David B. Goldstein, Matthew B. Harms, Mark J. Daly, Benjamin M. Neale
doi: https://doi.org/10.1101/307835
Sali M.K. Farhan
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA.
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Daniel P. Howrigan
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA.
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Liam E. Abbott
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA.
Andrea E. Byrnes
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA.
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Claire Churchhouse
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA.
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Hemali Phatnani
4Center for Genomics of Neurodegenerative Disease, New York Genome Center, New York, NY 10013, USA.
Bradley N. Smith
5United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, SE5 9NU, U.K.
Simon D. Topp
5United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, SE5 9NU, U.K.
Evadnie Rampersaud
6Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA.
Gang Wu
6Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA.
Joanne Wuu
7Department of Neurology, University of Miami, Miami, FL 33136, USA.
Amelie Gubitz
8National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20824, USA.
Joseph R. Klim
9Department of Stem Cell and Regenerative Biology, Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.
Daniel A. Mordes
9Department of Stem Cell and Regenerative Biology, Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.
Sulagna Ghosh
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
9Department of Stem Cell and Regenerative Biology, Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.
Kevin Eggan
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
9Department of Stem Cell and Regenerative Biology, Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.
Rosa Rademakers
10Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Jacob L. McCauley
11John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
12The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
Rebecca Schüle
13Center for Neurology and Hertie Institute für Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany. German Center for Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany.
Stephan Züchner
11John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
12The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
Michael Benatar
7Department of Neurology, University of Miami, Miami, FL 33136, USA.
J. Paul Taylor
14Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
15Department of Cell and Molecular Biology, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA.
Mike A. Nalls
16Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
17Data Tecnica International, Glen Echo, MD 20812, USA.
Bryan Traynor
18Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA.
19Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.
Christopher E. Shaw
5United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, SE5 9NU, U.K.
20Centre for Brain Research, University of Auckland, Auckland, New Zealand.
David B. Goldstein
21Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Matthew B. Harms
22Department of Neurology, Columbia University, New York, NY 10032, USA.
Mark J. Daly
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA.
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Benjamin M. Neale
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA.
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Posted April 25, 2018.
Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients
Sali M.K. Farhan, Daniel P. Howrigan, Liam E. Abbott, Andrea E. Byrnes, Claire Churchhouse, Hemali Phatnani, Bradley N. Smith, Simon D. Topp, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Amelie Gubitz, Joseph R. Klim, Daniel A. Mordes, Sulagna Ghosh, CReATe Consortium, FALS Consortium, ALSGENS Consortium, Kevin Eggan, Rosa Rademakers, Jacob L. McCauley, Rebecca Schüle, Stephan Züchner, Michael Benatar, J. Paul Taylor, Mike A. Nalls, Bryan Traynor, Christopher E. Shaw, David B. Goldstein, Matthew B. Harms, Mark J. Daly, Benjamin M. Neale
bioRxiv 307835; doi: https://doi.org/10.1101/307835
Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients
Sali M.K. Farhan, Daniel P. Howrigan, Liam E. Abbott, Andrea E. Byrnes, Claire Churchhouse, Hemali Phatnani, Bradley N. Smith, Simon D. Topp, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Amelie Gubitz, Joseph R. Klim, Daniel A. Mordes, Sulagna Ghosh, CReATe Consortium, FALS Consortium, ALSGENS Consortium, Kevin Eggan, Rosa Rademakers, Jacob L. McCauley, Rebecca Schüle, Stephan Züchner, Michael Benatar, J. Paul Taylor, Mike A. Nalls, Bryan Traynor, Christopher E. Shaw, David B. Goldstein, Matthew B. Harms, Mark J. Daly, Benjamin M. Neale
bioRxiv 307835; doi: https://doi.org/10.1101/307835
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