PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

Author:

Zhang Peng1ORCID,Bigio Benedetta1,Rapaport Franck1,Zhang Shen-Ying1,Casanova Jean-Laurent12345,Abel Laurent123,Boisson Bertrand123,Itan Yuval67

Affiliation:

1. St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA

2. Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France

3. Imagine Institute, Paris Descartes University, Paris, France

4. Howard Hughes Medical Institute, New York, NY, USA

5. Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris, France

6. The Charles Bronfman Institute for Personalized Medicine

7. Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA

Funder

National Institute of Allergy and Infectious Diseases

NIAID

National Institutes of Health

NIH

Rockefeller University

Charles Bronfman Institute for Personalized Medicine

Icahn School of Medicine at Mount Sinai

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

Reference22 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. OMIM.org: online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res,2015

3. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies;Casanova;J. Exp. Med,2014

4. IRF4 haploinsufficiency in a family with Whipple's disease;Guerin;Elife,2018

5. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes;Gussow;Genome Biol,2016

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