Variant analysis in a nutshell

The very brief instruction of installation and usage of AnFiSA.

  1. Install AnFiSA via docker compose: https://github.com/ForomePlatform/deploy/blob/main/docker-compose/README.md

  2. To analyse your own data use data processing pipelines prepared by Forome Project: https://github.com/ForomePlatform For now this is probably the most complicated part of working with AnFiSA. In case of any issues don’t hesitate to contact members of AnFiSA team directly.

  3. Run AnFiSA and ensure that your data are available

  4. Open your data set and select Filter Refiner of Decision Tree mode

    1. To use build-in filtering, just select and apply an appropriate filtering preset

    2. To use custom filtering, create your own filter chain or decision tree

  5. Create, name and save a new derived dataset containing variants satisfying the filtering

  6. Open created derived dataset and review resulting variations

  7. If needed, continue applying filters/decision trees, until you get set of variations with reasonable size, which can be reviewed manually.

  8. Review, tag and create the user curation notes for variants in derived dataset

  9. Export filtered and curated variants as a Microsoft Excel or CSV file.

Example of both phenotype-based and genotype-based analysis are here: Analysis examples

For detailed review of AnFiSA capabilities start from Introduction

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