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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

Tychele N. Turner, Christopher Douville, Dewey Kim, Peter D. Stenson, David N. Cooper, Aravinda Chakravarti, Rachel Karchin
doi: https://doi.org/10.1101/018648
Tychele N. Turner
1Predoctoral Training Program in Human Genetics and Molecular Biology, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
2Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
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Christopher Douville
3Departments of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21210 USA
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Dewey Kim
3Departments of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21210 USA
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Peter D. Stenson
4Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
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David N. Cooper
4Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
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Aravinda Chakravarti
2Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
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Rachel Karchin
3Departments of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21210 USA
5Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
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  • For correspondence: karchin@jhu.edu
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Posted April 27, 2015.
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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
Tychele N. Turner, Christopher Douville, Dewey Kim, Peter D. Stenson, David N. Cooper, Aravinda Chakravarti, Rachel Karchin
bioRxiv 018648; doi: https://doi.org/10.1101/018648
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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
Tychele N. Turner, Christopher Douville, Dewey Kim, Peter D. Stenson, David N. Cooper, Aravinda Chakravarti, Rachel Karchin
bioRxiv 018648; doi: https://doi.org/10.1101/018648

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