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.
Some things you can do in MedGen:
- Search for conditions based on individual terms or a set of clinical features
- Obtain information on features that distinguish a syndrome/condition from other conditions
- Access GeneReviews®, OMIM (Online Mendelian Inheritance in Man), PubMed (reviews, curated papers of interest, etc.), and consumer and pharmacogenetic resources
- Access actionable information like professional guidelines from medical and authoritative societies, available tests in the NIH Genetic Testing Registry (GTR®), and clinical variants in ClinVar
If you’re at NSGC 2018, you can chat with the expert at poster B-158, “MedGen: Your Access to Medical Genetics Information” on Thursday, November 15, from 6-7:15 PM. This presentation will demonstrate how to leverage MedGen to facilitate the clinical genetic process and how to incorporate this data into EHRs to make it available in hospitals and clinics.