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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.

A professional headshot of Michael Berger, an adult white woman with dark brown hair, and a white shirt.

MICHAEL BERGER

Published on April 13, 2020

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The back of a woman's head is visible as she works on a laptop open to PhenoTips' Pedigree Maker Tool featuring a four generation family annotated with genes, phenotypes, carrier statuses, and diagnoses.

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.

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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.

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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.

A PhenoTips user scrolls through their patient's record, scrolling past a highlighted indication for referral free-text section and the measurements sections in which quantiles are automatically captured with values outside the normal range flagged, to the phenotyping section of the patient record. Here they review some text-mined suggested that were pulled with natural language processing from the indication for referral section, and we see the growth parameters has automatically added HPO phenotype terms for the abnormal measurement values. They also use a quick phenotype search to capture detailed HPO terms, and browse branching categories to select some more.
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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.

A PhenoTips users scrolls through their patient's record, scrolling past their HPO phenotypic profile and toggling the genotype section. Based on their HPO profile, a list of suggested genes is opened. Then the user scrolls down to the diagnosis section to reveal a list of matching disorders in OMIM based on the patients' HPO profile.
Learn more about genotype information
Learn more about diagnosis
A professional headshot of Michael Berger, an adult white woman with dark brown, and a white shirt.

MICHAEL BERGER

Published on Jan 1st, 2024

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By entering your email you are agreeing to periodic relevant communications from PhenoTips.
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By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
By entering your email you are agreeing to periodic relevant communications from PhenoTips.
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