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4 Easy Steps to Get Started with PhenoTips

New to PhenoTips and unsure where to start? Here are 4 simple steps to get you on your way.

Michael Berger
Michael Berger
A woman working on her laptop drawing a pedigree. Only the back of her head, her hands and her screen are visible, and a full cup of coffee sits beside her laptop.

Step 1: Create a patient record

To get started, create a new patient record by hovering over “+ Create” in the header and selecting “New patient”. Input date of birth, sex and other relevant patient info.

An animated GIF showing the creation of a new patient record and entering of basic patient information into PhenoTips Cloud.

Step 2: Draw a pedigree

Open the “Family history and pedigree” section of your patient record and click “Draw pedigree”. Select a template that looks the most like your desired structure, and then add individuals (nodes) using the handles that appear when you hover on a node. Selecting nodes lets you add personal details including cancers, phenotypes, genes, and diagnoses. Once a cancer, phenotype, gene, or diagnosis is assigned to any node in the pedigree, you can drag and drop it from the legend on the right to any other node in the pedigree.

An animated GIF showing how to draw a pedigree in PhenoTips, starting from a patient record. First a template is selected, then additional nodes are added, a diagnosis, gene and phenotype are indicated for one node in the pedigree, and finally the gene assigned to the node is dragged onto the proband from the pedigree legend.

Step 3: Capture Phenotypes

Enter standardized symptoms in the “Clinical symptoms and physical findings” section using the Human Phenotype Ontology (HPO). In this section, view phenotypes added automatically from abnormal measurements in the “Measurements” section, marked by lightning symbols. Confirm phenotype suggestions pulled from free-text clinical notes previously entered in the “Patient information” or “Medical history” sections. To enter phenotypes directly, use a quick predictive search or browse categories.

An animated GIF showing the various ways to capture phenotypes in PhenoTips. First the GIf shows a user scrolling through free-text clinical notes in the “Patient information” section, then they scroll down to see abnormal measurements flagged in the “Measurements” section. In the “Clinical symptoms and physical findings” section these abnormal measurements are already added as phenotypes. The user then views and confirms phenotypes pulled from the free-text notes. In the same section a predictive phenotype search is performed, and a phenotype is selected from browsing categories.

Step 4: Get insights

Take advantage of your high quality phenotypic data and use artificial intelligence to get insights. Use the “Genotype information” section to view probable genes based on your phenotypic profile. Use the “Diagnosis” section to view and confirm diagnosis suggestions based on your phenotypic profile.

An animated GIF showing a PhenoTips user browsing their gene and diagnoses suggestions based on the entered phenotypic profile.

Michael Berger
Michael Berger