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Open Access
Peer-reviewed
Research Article
Testing for an Unusual Distribution of Rare Variants
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Benjamin M. Neale ,
Contributed equally to this work with: Benjamin M. Neale, Manuel A. Rivas
* E-mail: bneale@broadinstitute.org(BMN); mjdaly@chgr.mgh.harvard.edu(MJD); Kathryn.roeder@gmail.com (KR)
Affiliations The Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Manuel A. Rivas ,
Contributed equally to this work with: Benjamin M. Neale, Manuel A. Rivas
Affiliations The Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Benjamin F. Voight,
Affiliations The Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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David Altshuler,
Affiliations The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America, Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, United States of America
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Bernie Devlin,
Affiliation Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America
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Marju Orho-Melander,
Affiliation Department of Clinical Sciences Malmö, Diabetes and Cardiovascular Diseases, Genetic Epidemiology CRC, University Hospital Malmö, Malmö, Sweden
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Sekar Kathiresan,
Affiliations The Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America, Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America
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Shaun M. Purcell,
Affiliations The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, United States of America
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Kathryn Roeder ,
* E-mail: bneale@broadinstitute.org(BMN); mjdaly@chgr.mgh.harvard.edu(MJD); Kathryn.roeder@gmail.com (KR)
¶These authors also contributed equally to this work.
Affiliation Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America
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Mark J. Daly
* E-mail: bneale@broadinstitute.org(BMN); mjdaly@chgr.mgh.harvard.edu(MJD); Kathryn.roeder@gmail.com (KR)
¶These authors also contributed equally to this work.
Affiliations The Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
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Testing for an Unusual Distribution of Rare Variants
- Benjamin M. Neale,
- Manuel A. Rivas,
- Benjamin F. Voight,
- David Altshuler,
- Bernie Devlin,
- Marju Orho-Melander,
- Sekar Kathiresan,
- Shaun M. Purcell,
- Kathryn Roeder,
- Mark J. Daly

- Published: March 3, 2011
- https://doi.org/10.1371/journal.pgen.1001322