Every variant, fully worked up.
Interpret rare-disease variants with literature, population, and structural evidence in one place, and turn genomic findings into ranked, testable hypotheses.
Built for: Clinical geneticists, Translational researchers, Diagnostic labs
Challenges
- Variant workups are manual: Each variant means a tour through ClinVar, gnomAD, the literature, and a structure viewer before a call can be made.
- Structural context is missing: Most interpretations stop at conservation scores because mapping a variant onto a 3D structure is too slow.
- Findings don't become hypotheses: Interesting variants get flagged and filed; the mechanistic follow-up rarely happens.
What LiteFold does
- Rare-disease variant interpretation: Combine population frequency, literature, and predicted structural impact into an evidence-graded interpretation.
- Structure-aware impact assessment: Map variants onto experimental or predicted structures and reason about stability, binding, and function.
- Mechanistic hypothesis generation: Turn a variant of interest into ranked hypotheses about mechanism, with the experiments to test them.
- Auditable evidence trail: Every call links back to its sources so reviewers can check the reasoning, not just the conclusion.