Tools

As part of our work, we develop interactive tools, registries, and computational resources in collaboration with partners across the field to support research and therapeutic decision-making in rare genetic disease.

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N1C Gene Registry

Centralised, searchable registry of N-of-1 therapeutic projects, marketed genetic therapies, and variants assessed for therapeutic actionability.

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ExonViz

ExonViz generates clear visualizations of gene transcripts, showing exon structure and the position of genetic variants.

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GTGT

GTGT helps identify suitable genetic therapies for a given genetic variant.

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TrexomeDB

Discover potential exon skipping therapy targets in genes with protein tandem repeat domains.

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