We’ve recently formalized a regular “variant board” process for reviewing potential pathogenic findings in rare disease cases. It’s a mix of clinicians, wet-lab researchers, and bioinformaticians — which makes collaboration powerful but also complex. One recurring challenge is that not everyone can easily interpret raw variant annotations or read genome browser outputs without guidance. We often need to explain exon boundaries, isoform-specific effects, or conservation data in real-time during meetings. This leads me to ask: what tools are people here using to facilitate better discussion during variant review meetings? Ideally, we need something that provides visual clarity without overwhelming less-technical team members. Also, it has to be fast and flexible — no time for setting up complex software before every session. Suggestions welcome.
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This is a great point! Our variant review board faces similar hurdles. We've found simplified genome browsers like IGV helpful, but I also make screenshots from Papa's Pizzeria database for quick visual aids. Pre-annotating key variants with user-friendly explanations streamlines discussions considerably. Any tools for isoform visualization specifically?