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: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

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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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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