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Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel G MacArthur
doi: https://doi.org/10.1101/030841
James Zou
1Microsoft Research, One Memorial Drive, Cambridge MA, USA
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Gregory Valiant
2Computer Science Department, Stanford University, Palo Alto CA, USA
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Paul Valiant
3Computer Science Department, Brown University, Providence RI, USA
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Konrad Karczewski
4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA
5Broad Institute or MIT and Harvard, Cambridge MA, USA
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Siu On Chan
6Computer Science and Engineering, Chinese University of Hong Kong, Hong Kong, China.
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Kaitlin Samocha
4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA
5Broad Institute or MIT and Harvard, Cambridge MA, USA
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Monkol Lek
4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA
5Broad Institute or MIT and Harvard, Cambridge MA, USA
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7Exome Aggregation Consortium (ExAC), Cambridge MA, USA
Shamil Sunyaev
5Broad Institute or MIT and Harvard, Cambridge MA, USA
8Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston MA, USA
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Mark Daly
4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA
5Broad Institute or MIT and Harvard, Cambridge MA, USA
9Department of Medicine, Harvard Medical School, Boston MA, USA
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Daniel G MacArthur
4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA
5Broad Institute or MIT and Harvard, Cambridge MA, USA
9Department of Medicine, Harvard Medical School, Boston MA, USA
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Posted November 07, 2015.
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Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel G MacArthur
bioRxiv 030841; doi: https://doi.org/10.1101/030841
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Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel G MacArthur
bioRxiv 030841; doi: https://doi.org/10.1101/030841

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