In support of data sharing efforts, NCBI’s ClinVar and Genetic Testing Registry (GTR) now accept submissions that use MONDO IDs to identify conditions.
To submit to ClinVar, download our updated spreadsheet templates and enter MONDO as the Condition ID type. Note: The updated template is necessary only if you identify the condition by MONDO ID, not by name.
GTR submitters can use MONDO IDs to identify phenotypes in the clinical tests submitted via spreadsheet, and Mondo phenotype names in both clinical and research test submissions.
MedGen is a free, comprehensive resource for one-stop access to essential information on phenotypic health topics related to medical genetics as collected from established high-quality sources. It integrates terminology from multiple primary ontologies (or nomenclatures) to facilitate standardization and more accurate results from search queries.
Join us next Wednesday, May 2, 2018, 12:00 PM – 12:30 PM EDT for a webinar on MedGen, NCBI’s portal to clinical genetics. We’ll show you how to find information in MedGen on genetic phenotypes, clinical features of disorders, and more. You’ll also learn how to retrieve actionable information such as practice guidelines for a condition and get a list of available genetic tests in GTR, and how to easily access resources like GeneReviews, OMIM and ClinicalTrials.gov, the Genetic and Rare Diseases Information Center, and Medline Plus.
After registering, you will receive a confirmation email with information about attending the webinar. A few days after the live presentation, you can view the recording on the NCBI YouTube channel. You can learn about future webinars on the Webinars and Courses page.
MedGen – a medical genetics portal that focuses on information about medical conditions with a genetic component
ClinVar – an archival database that contains reported assertions about the relationship between genetic variations and phenotypes
This blog will provide a very brief overview of the three resources by outlining some of their content features. For a more thorough introduction to the three resources, including the types of information available in each and how to use them, we recommend viewing this approximately hour-long webinar that we conducted in June 2014.