Evagene changelog
Release notes for Evagene's pedigree platform. Dated entries, with links to the full write-up for each release.
Evagene Pedigree Builder — ChatGPT Custom GPT
A new natural-language route into Evagene. The Evagene Pedigree Builder is a published ChatGPT Custom GPT that converts a plain-English family description into an Evagene-compatible pedigree JSON file. The user describes their family, the GPT asks clarifying questions where structure is ambiguous, and it returns a downloadable file that imports directly into Evagene via File → Load pedigree → Load Evagene file. This is a Route A integration (JSON-producing); a Route B with live Actions against the Evagene API is planned but not yet built. Requires a paid ChatGPT subscription — OpenAI's policy for all Custom GPTs, not an Evagene paywall. The GPT is a data-capture aid only: it does not give medical advice, diagnose, or run risk models; all interpretation happens inside Evagene after the file is loaded.
Four non-classical inheritance models
X-linked dominant with five sex-differential severity sub-modes (Rett-class, incontinentia pigmenti, CFND, EFMR); mitochondrial with strict maternal transmission and heteroplasmy scaling (LHON, MELAS, MERRF, NARP, Leigh, Kearns-Sayre, Pearson); digenic two-locus with the classical 25% ratio (Usher type 2, some RP, primary congenital glaucoma); imprinting / uniparental disomy with mechanism-weighted recurrence and the parent-of-origin rule for IC defects (Prader-Willi, Angelman, Beckwith-Wiedemann, Silver-Russell, TNDM).
Polygenic inheritance, nine cancer family-history models, CanRisk export
Liability-threshold recurrence-risk engine (Carter 1961, Falconer 1965, Reich/James/Morton 1972) across 20+ complex diseases. Nine cancer family-history scoring models — Claus, Couch, Frank, Manchester, NICE CG164/NG101, Amsterdam II, revised Bethesda, Gail NCI BCRAT, and a Tyrer-Cuzick IBIS-style approximation. One-click CanRisk / BOADICEA v4 pedigree export (BOADICEA not bundled — licensed by the University of Cambridge). Reproductive / breast-health fields added to the Individual record to drive Gail, Tyrer-Cuzick, and the CanRisk export.
Also see
- Research & citations — peer-reviewed papers citing Evagene and the U.S. VA Technical Reference Model listing.
- Decision matrix — which risk model for which counselling question?
- Complex-disease pedigree software — the 20+ catalogued multifactorial conditions.
- Mitochondrial inheritance · Imprinting / UPD · X-linked dominant · Digenic