Home LiteratureArticle Details
PMID: 30535305 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

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

Bioinformatics (Oxford, England) ·Vol. 34 ·No. 24 ·2018-00-15 ·Pages 4307-4309

Zhang P, Bigio B, Rapaport F, Zhang SY, Casanova JL, Abel L, Boisson B, Itan Y

Abstract

Next-generation sequencing (NGS) generates large amounts of genomic data and reveals about 20 000 genetic coding variants per individual studied. Several mutation damage prediction scores are available to prioritize variants, but there is currently no application to help investigators to determine the relevance of the candidate genes and variants quickly and visually from population genetics data and deleteriousness scores. Here, we present PopViz, a user-friendly, rapid, interactive, mobile-compatible webserver providing a gene-centric visualization of the variants of any human gene, with (i) population-specific minor allele frequencies from the gnomAD population genetic database; (ii) mutation damage prediction scores from CADD, EIGEN and LINSIGHT and (iii) amino-acid positions and protein domains. This application will be particularly useful in investigations of NGS data for new disease-causing genes and variants, by reinforcing or rejecting the plausibility of the candidate genes, and by selecting and prioritizing, the candidate variants for experimental testing. PopViz webserver is freely accessible from http://shiva.rockefeller.edu/PopViz/. Supplementary data are available at Bioinformatics online.

MeSH Terms
Computational Biology Gene Frequency Genetic Variation Genomics High-Throughput Nucleotide Sequencing Humans Software
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Zhang Peng
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.
Bigio Benedetta
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.
Rapaport Franck
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.
Zhang Shen-Ying
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.
Casanova Jean-Laurent
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA. | Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France. | Imagine Institute, Paris Descartes University, Paris, France. | Howard Hughes Medical Institute, New York, NY, USA. | Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris, France.
Abel Laurent
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA. | Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France. | Imagine Institute, Paris Descartes University, Paris, France.
Boisson Bertrand
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA. | Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France. | Imagine Institute, Paris Descartes University, Paris, France.
Itan Yuval
The Charles Bronfman Institute for Personalized Medicine. | Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
References (22)
22 references, click to expand
  1. Exome and genome sequencing for inborn errors of immunity.
    J Allergy Clin Immunol. 2016 Oct;138(4):957-969 PMID: 27720020
  2. Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
    Cell. 2017 Feb 23;168(5):789-800.e10 PMID: 28235196
  3. Proteomics. Tissue-based map of the human proteome.
    Science. 2015 Jan 23;347(6220):1260419 PMID: 25613900
  4. UniProt: the universal protein knowledgebase.
    Nucleic Acids Res. 2017 Jan 4;45(D1):D158-D169 PMID: 27899622
  5. Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures.
    Am J Hum Genet. 2018 Mar 1;102(3):415-426 PMID: 29455857
  6. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.
    J Exp Med. 2014 Oct 20;211(11):2137-49 PMID: 25311508
  7. The human genome browser at UCSC.
    Genome Res. 2002 Jun;12(6):996-1006 PMID: 12045153
  8. Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data.
    Nat Genet. 2017 Apr;49(4):618-624 PMID: 28288115
  9. IRF4 haploinsufficiency in a family with Whipple's disease.
    Elife. 2018 Mar 14;7:null PMID: 29537367
  10. A method and server for predicting damaging missense mutations.
    Nat Methods. 2010 Apr;7(4):248-9 PMID: 20354512
  11. Guidelines for investigating causality of sequence variants in human disease.
    Nature. 2014 Apr 24;508(7497):469-76 PMID: 24759409
  12. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
    N Engl J Med. 2016 Mar 17;374(11):1032-1043 PMID: 26981933
  13. The mutation significance cutoff: gene-level thresholds for variant predictions.
    Nat Methods. 2016 Feb;13(2):109-10 PMID: 26820543
  14. Analysis of protein-coding genetic variation in 60,706 humans.
    Nature. 2016 Aug 17;536(7616):285-91 PMID: 27535533
  15. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.
    Genome Biol. 2016 Jan 18;17:9 PMID: 26781712
  16. Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
    Cell. 2018 Feb 22;172(5):952-965.e18 PMID: 29474921
  17. A general framework for estimating the relative pathogenicity of human genetic variants.
    Nat Genet. 2014 Mar;46(3):310-5 PMID: 24487276
  18. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.
    Nat Protoc. 2009;4(7):1073-81 PMID: 19561590
  19. The human gene damage index as a gene-level approach to prioritizing exome variants.
    Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20 PMID: 26483451
  20. A spectral approach integrating functional genomic annotations for coding and noncoding variants.
    Nat Genet. 2016 Feb;48(2):214-20 PMID: 26727659
  21. Ensembl 2018.
    Nucleic Acids Res. 2018 Jan 4;46(D1):D754-D761 PMID: 29155950
  22. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
    Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98 PMID: 25428349
Article Info
Journal
Bioinformatics (Oxford, England)
Abbr.
Bioinformatics
ISSN
1367-4811
Published
2018-00-15
Pages
4307-4309
Language
English
Region
England
NLM ID
9808944
PMCID
PMC6289133
Subset
IM
Grants
NIAID NIH HHS · P01 AI061093 · United States
NIAID NIH HHS · R01 AI088364 · United States
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com