The people
What they build
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Working at PhenoTips
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On the TechTO stage
Every talk is searchable — ask the archive about PhenoTips ↗
About
PhenoTips came out of a research project at The Hospital for Sick Children and the University of Toronto in 2014, built by Pawel Buczkowicz and Orion Buske. Its flagship product captures structured phenotype data — the observable characteristics that let clinicians and researchers narrow a genetic diagnosis — and draws family pedigrees, and is used by leading hospitals and research institutions. The company also worked on a Canada-wide rare disease data repository. It appears in TechTO's archive under its corporate name, Gene42.
Backers
Funding not disclosed in public sources
Quick answers
What does PhenoTips do?
It captures deep clinical phenotype data and draws family pedigrees for hospitals and research institutions working on rare disease and genetic diagnosis.
Why does TechTO's archive say Gene42?
Gene42 is the corporate name; PhenoTips is the product the company is now known by. Pawel Buczkowicz's December 2018 HealthTO talk is listed under Gene42.
Where did PhenoTips come from?
A 2014 research project at The Hospital for Sick Children and the University of Toronto, grown out by Pawel Buczkowicz and Orion Buske.