Genevieve Genome Report is a tool that takes genome, exome, or 23andMe data and produces a report comparing your genome to the “ClinVar” database – a public compilation of publish reports and databases.
This might uncover reports about to rare variants with potentially dramatic effects: people typically carry several “recessive diseases”, and this report might uncover some of yours. But it might also uncover mistakes in the literature! Research is messy, and so is this. To help everyone sort through the evidence, Genevieve also invites users to edit collaborative notes regarding reported effects.
As such, the tool is not a clinical tool, no more than Wikipedia is! It’s open source, freely shared, and intended for collaborative learning. It’s my own personal project – and I’ve extended it to enable private data analysis, and empower more folks to explore their data.