VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses

Author:

Tichkule Swapnil12ORCID,Myung Yoochan34ORCID,Naung Myo T12,Ansell Brendan R E1,Guy Andrew J5,Srivastava Namrata6,Mehra Somya7,Cacciò Simone M8,Mueller Ivo1,Barry Alyssa E79,van Oosterhout Cock10ORCID,Pope Bernard11121314ORCID,Ascher David B34ORCID,Jex Aaron R115

Affiliation:

1. Population Health and Immunity, Walter and Eliza Hall Institute of Medical Research , Melbourne , Australia

2. Department of Medical Biology, University of Melbourne , Melbourne , Australia

3. Systems and Computational Biology, Bio21 Institute, University of Melbourne , Melbourne , Australia

4. Computational Biology and Clinical Informatics, Baker Heart and Diabetes , Melbourne , Australia

5. School of Science, RMIT University , Melbourne , Australia

6. Department of Data Science and AI, Monash University , Melbourne , Australia

7. Life Sciences Discipline, Burnet Institute , Melbourne , Australia

8. Department of Infectious Disease, Istituto Superiore di Sanità , Rome , Italy

9. Institute of Mental and Physical Health and Clinical Translation (IMPACT) and School of Medicine, Deakin University , Geelong , Australia

10. School of Environmental Sciences, University of East Anglia, Norwich Research Park , Norwich , UK

11. Melbourne Bioinformatics, University of Melbourne , Melbourne , Australia

12. Australian BioCommons , Sydney , Australia

13. Department of Clinical Pathology, University of Melbourne , Melbourne , Australia

14. Department of Surgery (Royal Melbourne Hospital), University of Melbourne , Melbourne , Australia

15. Faculty of Veterinary and Agricultural Sciences, University of Melbourne , Melbourne , Australia

Abstract

AbstractLarge-scale comparative genomics- and population genetic studies generate enormous amounts of polymorphism data in the form of DNA variants. Ultimately, the goal of many of these studies is to associate genetic variants to phenotypes or fitness. We introduce VIVID, an interactive, user-friendly web application that integrates a wide range of approaches for encoding genotypic to phenotypic information in any organism or disease, from an individual or population, in three-dimensional (3D) space. It allows mutation mapping and annotation, calculation of interactions and conservation scores, prediction of harmful effects, analysis of diversity and selection, and 3D visualization of genotypic information encoded in Variant Call Format on AlphaFold2 protein models. VIVID enables the rapid assessment of genes of interest in the study of adaptive evolution and the genetic load, and it helps prioritizing targets for experimental validation. We demonstrate the utility of VIVID by exploring the evolutionary genetics of the parasitic protist Plasmodium falciparum, revealing geographic variation in the signature of balancing selection in potential targets of functional antibodies.

Funder

National Health and Medical Research Council

Victorian Health and Medical Research Fellowship

Publisher

Oxford University Press (OUP)

Subject

Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

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