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Research Article

Searching for missing heritability: Designing rare variant association studies

Or Zuk, Stephen F. Schaffner, Kaitlin Samocha, Ron Do, Eliana Hechter, Sekar Kathiresan, Mark J. Daly, Benjamin M. Neale, Shamil R. Sunyaev, and Eric S. Lander
PNAS first published January 17, 2014; https://doi.org/10.1073/pnas.1322563111
Or Zuk
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
bToyota Technological Institute at Chicago, Chicago, IL 60637;
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Stephen F. Schaffner
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
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Kaitlin Samocha
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
cAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114;
dProgram in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02114;
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Ron Do
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
eCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;
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Eliana Hechter
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
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Sekar Kathiresan
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
eCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;
fCardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114;
gDepartment of Medicine, Harvard Medical School, Boston, MA 02115;
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Mark J. Daly
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
cAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114;
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Benjamin M. Neale
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
cAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114;
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Shamil R. Sunyaev
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
hDivision of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 20115;
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Eric S. Lander
aBroad Institute of Harvard and MIT, Cambridge, MA 02142;
iDepartment of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139; and
jDepartment of Systems Biology, Harvard Medical School, Boston, MA 02115
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  • For correspondence: lander@broadinstitute.org
  1. Contributed by Eric S. Lander, December 10, 2013 (sent for review September 23, 2013)

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Designing rare variant association studies
Or Zuk, Stephen F. Schaffner, Kaitlin Samocha, Ron Do, Eliana Hechter, Sekar Kathiresan, Mark J. Daly, Benjamin M. Neale, Shamil R. Sunyaev, Eric S. Lander
Proceedings of the National Academy of Sciences Jan 2014, 201322563; DOI: 10.1073/pnas.1322563111

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Designing rare variant association studies
Or Zuk, Stephen F. Schaffner, Kaitlin Samocha, Ron Do, Eliana Hechter, Sekar Kathiresan, Mark J. Daly, Benjamin M. Neale, Shamil R. Sunyaev, Eric S. Lander
Proceedings of the National Academy of Sciences Jan 2014, 201322563; DOI: 10.1073/pnas.1322563111
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