Mutation severity spectrum of rare alleles in the human genome is predictive of disease type

Jimin Pei; Lisa N. Kinch; Zbyszek Otwinowski; Nick V. Grishin

doi:10.1371/journal.pcbi.1007775

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Open Access

Peer-reviewed

Research Article

Mutation severity spectrum of rare alleles in the human genome is predictive of disease type

Jimin Pei,

Roles Formal analysis, Methodology, Software, Writing – original draft

Affiliation Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America
⨯
Lisa N. Kinch,

Roles Formal analysis, Writing – original draft

Affiliation Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America
⨯
Zbyszek Otwinowski,

Roles Conceptualization

Affiliation Departments of Biophysics and Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America
⨯
Nick V. Grishin

Roles Conceptualization, Methodology, Writing – review & editing

* E-mail: grishin@chop.swmed.edu

Affiliations Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America, Departments of Biophysics and Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America

http://orcid.org/0000-0003-4108-1153

⨯

Mutation severity spectrum of rare alleles in the human genome is predictive of disease type

Jimin Pei,
Lisa N. Kinch,
Zbyszek Otwinowski,
Nick V. Grishin

Published: May 15, 2020
https://doi.org/10.1371/journal.pcbi.1007775

About the Authors

Jimin Pei

Roles Formal analysis, Methodology, Software, Writing – original draft

Affiliation Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America

Lisa N. Kinch

Roles Formal analysis, Writing – original draft

Affiliation Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America

Zbyszek Otwinowski

Roles Conceptualization

Affiliation Departments of Biophysics and Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America

Nick V. Grishin

Roles Conceptualization, Methodology, Writing – review & editing

* E-mail: grishin@chop.swmed.edu

Affiliations Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America, Departments of Biophysics and Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America

http://orcid.org/0000-0003-4108-1153

Competing Interests

The authors have declared that no competing interests exist.

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Mutation databases
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Pathogens
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Neural networks
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Mitochondria
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Mutation
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Genetics of disease
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Protein sequencing
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Protein structure prediction
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