Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

Christopher A. Cassa; Donate Weghorn; Daniel J. Balick; Daniel M. Jordan; David Nusinow; Kaitlin E. Samocha; Anne O'Donnell Luria; Daniel G. MacArthur; Mark J. Daly; David R. Beier; Shamil R. Sunyaev

doi:10.1101/075523

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Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

View ORCID ProfileChristopher A. Cassa, Donate Weghorn, Daniel J. Balick, Daniel M. Jordan, David Nusinow, Kaitlin E. Samocha, Anne O'Donnell Luria, Daniel G. MacArthur, Mark J. Daly, David R. Beier, Shamil R. Sunyaev

doi: https://doi.org/10.1101/075523

Christopher A. Cassa

1Brigham and Women’s Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA

2Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA

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ORCID record for Christopher A. Cassa

Donate Weghorn

1Brigham and Women’s Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA

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Daniel J. Balick

1Brigham and Women’s Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA

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Daniel M. Jordan

3Department of Genetic and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA

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David Nusinow

1Brigham and Women’s Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA

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Kaitlin E. Samocha

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

5Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA

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Anne O'Donnell Luria

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

6Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA

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Daniel G. MacArthur

2Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

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Mark J. Daly

2Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

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David R. Beier

7Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute, Seattle, WA, USA

8Dept. of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA

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For correspondence: ssunyaev@rics.bwh.harvard.edu David.Beier@seattlechildrens.org

Shamil R. Sunyaev

1Brigham and Women’s Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA

2Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA

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For correspondence: ssunyaev@rics.bwh.harvard.edu David.Beier@seattlechildrens.org

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Posted September 16, 2016.

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Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

Christopher A. Cassa, Donate Weghorn, Daniel J. Balick, Daniel M. Jordan, David Nusinow, Kaitlin E. Samocha, Anne O'Donnell Luria, Daniel G. MacArthur, Mark J. Daly, David R. Beier, Shamil R. Sunyaev

bioRxiv 075523; doi: https://doi.org/10.1101/075523

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Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

Christopher A. Cassa, Donate Weghorn, Daniel J. Balick, Daniel M. Jordan, David Nusinow, Kaitlin E. Samocha, Anne O'Donnell Luria, Daniel G. MacArthur, Mark J. Daly, David R. Beier, Shamil R. Sunyaev

bioRxiv 075523; doi: https://doi.org/10.1101/075523

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