Smart software for clinical genetics

PhenoTips® is Gene42’s flagship product, offering smart patient data capture utilizing standardized clinical vocabularies. Used in a diverse range of patient settings across the world, it has been proven to improve diagnostic accuracy for patients suffering from diseases with genetic bases. Flexible and versatile, PhenoTips® is easy to customize and integrate with established clinical workflows and systems.

Streamlined symptom capture

PhenoTips® was built from the ground up as a first-class solution to the problems most commonly faced by clinical geneticists, specifically in dealing with rare-disease patients.

Using the Human Phenotype Ontology (HPO), PhenoTips® comprehensively captures patient phenotype data without the pitfalls of free-text.

Intuitive user interface

Easily record phenotype data with the help of a well-designed user-interface that hides the complexity of a multi-thousand term database, exposing only relevant information.

Precise phenotype annotation

For each phenotype term, record a wealth of information for use in future investigation and diagnosis.

Advanced phenotype search

Search for a specific phenotype term among the thousands available, with the help of intelligent partial-term search and automatic search suggestions.

Full phenotype browser

Drill down to a specific phenotype term in the phenotype tree (ontology) using a full phenotype browser interface.

Pedigree in seconds

Track family data with ease using intuitive, comprehensive, and flexible pedigree tools

  • Advanced annotation with aspects including phenotype, disease, and genes
  • Templates
  • Import/Export
  • Automatic layout and re-layout
  • Printing

Instant measurement feedback

Gain immediate insight with the help of automatically generated measurement charts and calculations

  • Growth charts generated in real time with plotted values
  • Percentile and standard deviation calculated in real time
  • Computed measurements (e.g. BMI) calculated in real time
  • Printable growth charts
  • Multiple charts available based on gender and age
  • Support for over 15 measurement types

Automated diagnostic assistance

Make a more well-informed diagnosis using automatically computed suggestions and guidance

  • Evaluation of the effectiveness of selected phenotypes for diagnosis
  • Computation of possibly related phenotypes
  • Automatic diagnosis suggestion using phenotype-disease correlation databases

Integrated genomics

Incorporate genomic data directly into your workflow for a more comprehensive investigation

  • Enter suspected genes for future investigation
  • Track the status of genetic variants as they undergo verification
  • Cross-reference variants using integrated links to established databases
  • Record deep metadata on each variant