https://github.com/molgenis/vkgl-history-analytics

A tool that parses VKGL variant classification data from public releases, connects variants across time and provides insights by visualizing different aspects.
https://github.com/molgenis/vkgl-history-analytics

dna-sequencing molecular-diagnostics pathogenicity-classification

Last synced: about 2 months ago
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A tool that parses VKGL variant classification data from public releases, connects variants across time and provides insights by visualizing different aspects.

• Host: GitHub
• URL: https://github.com/molgenis/vkgl-history-analytics
• Owner: molgenis
• License: lgpl-3.0
• Created: 2021-05-06T09:27:02.000Z (over 3 years ago)
• Default Branch: main
• Last Pushed: 2024-11-13T13:27:13.000Z (about 2 months ago)
• Last Synced: 2024-11-13T14:29:14.414Z (about 2 months ago)
• Topics: dna-sequencing, molecular-diagnostics, pathogenicity-classification
• Language: Java
• Homepage: https://vkgl.molgeniscloud.org
• Size: 139 MB
• Stars: 0
• Watchers: 1
• Forks: 1
• Open Issues: 0
• Metadata Files:
  • Readme: README.md
  • License: LICENSE

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README

        
# vkgl-history-analytics

A tool that parses VKGL variant classification data from public releases, connects variants across time and provides insights by visualizing different aspects as [alluvial diagrams](https://en.wikipedia.org/wiki/Alluvial_diagram).

Please cite [Fokkema et al. 2019](https://doi.org/10.1002/humu.23896).

## Overview visualizations

![Latest release](img/vkgl-oct2024.png)

![More than 1 class](img/vkgl-oct2024-gt1clsf.png)

![LP-LB or LB-LP](img/vkgl-oct2024-lp-lb-trans.png)

![Not in latest](img/vkgl-notinoct2024.png)

![Multiclass](img/vkgl-oct2024-multiclass.png)

## Examples of visualizations for specific chromosomes, genes or variant consequences

![Y chromosome](img/vkgl-oct2024-y.png)

![SAID indels](img/vkgl-oct2024-said-indels.png)

![BRCA1 insertions](img/vkgl-oct2024-brca1-ins.png)