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

Large-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...

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Autores principales: Tichkule, Swapnil, Myung, Yoochan, Naung, Myo T, Ansell, Brendan R E, Guy, Andrew J, Srivastava, Namrata, Mehra, Somya, Cacciò, Simone M, Mueller, Ivo, Barry, Alyssa E, van Oosterhout, Cock, Pope, Bernard, Ascher, David B, Jex, Aaron R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9514033/
https://www.ncbi.nlm.nih.gov/pubmed/36103257
http://dx.doi.org/10.1093/molbev/msac196
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author Tichkule, Swapnil
Myung, Yoochan
Naung, Myo T
Ansell, Brendan R E
Guy, Andrew J
Srivastava, Namrata
Mehra, Somya
Cacciò, Simone M
Mueller, Ivo
Barry, Alyssa E
van Oosterhout, Cock
Pope, Bernard
Ascher, David B
Jex, Aaron R
author_facet Tichkule, Swapnil
Myung, Yoochan
Naung, Myo T
Ansell, Brendan R E
Guy, Andrew J
Srivastava, Namrata
Mehra, Somya
Cacciò, Simone M
Mueller, Ivo
Barry, Alyssa E
van Oosterhout, Cock
Pope, Bernard
Ascher, David B
Jex, Aaron R
author_sort Tichkule, Swapnil
collection PubMed
description Large-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.
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spelling pubmed-95140332022-09-28 VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses Tichkule, Swapnil Myung, Yoochan Naung, Myo T Ansell, Brendan R E Guy, Andrew J Srivastava, Namrata Mehra, Somya Cacciò, Simone M Mueller, Ivo Barry, Alyssa E van Oosterhout, Cock Pope, Bernard Ascher, David B Jex, Aaron R Mol Biol Evol Discoveries Large-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. Oxford University Press 2022-09-14 /pmc/articles/PMC9514033/ /pubmed/36103257 http://dx.doi.org/10.1093/molbev/msac196 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of Society for Molecular Biology and Evolution. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Discoveries
Tichkule, Swapnil
Myung, Yoochan
Naung, Myo T
Ansell, Brendan R E
Guy, Andrew J
Srivastava, Namrata
Mehra, Somya
Cacciò, Simone M
Mueller, Ivo
Barry, Alyssa E
van Oosterhout, Cock
Pope, Bernard
Ascher, David B
Jex, Aaron R
VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses
title VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses
title_full VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses
title_fullStr VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses
title_full_unstemmed VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses
title_short VIVID: A Web Application for Variant Interpretation and Visualization in Multi-dimensional Analyses
title_sort vivid: a web application for variant interpretation and visualization in multi-dimensional analyses
topic Discoveries
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9514033/
https://www.ncbi.nlm.nih.gov/pubmed/36103257
http://dx.doi.org/10.1093/molbev/msac196
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