Category Archives: MedGen
October 10 Webinar: Using NCBI Medical Genetics Resources: MedGen, ClinVar, GTR
Next Wednesday, October 10, 2018, NCBI staff will show you how to use the NCBI resources MedGen, ClinVar, and GTR to locate records for a specified list of symptoms or clinical features, explore specific disease-causing variants, see the review status … Continue reading
Posted by in ClinVar, education, Genetic Testing Registry, librarians, MedGen, webinars, What's New
5 new videos on YouTube: Get the most out of BLAST, MedGen, PubChem and more
Here are the latest videos on our YouTube channel. Subscribe to get alerts for new videos. NCBI Minute: Getting the Most out of Web BLAST Tabular Format The NCBI web BLAST service has several useful download formats, including tabular formats. … Continue reading
May 2 webinar: Using NCBI’s MedGen in Clinical Practice
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 … Continue reading
Posted by in clinicaltrials.gov, GARD, GeneReviews, Genetic Testing Registry, GTR, MedGen, Medline Plus, webinars, What's New
ClinVar Allele-Based Summaries Now Available for FTP Download
ClinVar, NCBI’s archive of submitted associations between alleles in the human genome and diseases or phenotypes, is now producing XML files that aggregate all submitted disease/phenotype information by variant (or set of variants) for public release via FTP bulk download. … Continue reading 
Posted by in ClinVar, MedGen, Variation, What's New
Questions about GTR, ClinVar, or MedGen? Ask us at ASCO 2017!
NCBI will be exhibiting at the ASCO Annual Meeting 2017 from June 2-6. Exhibit Hall Booth #3046 ASCO attendees can get navigation tips and hands-on help with GTR and ClinVar submissions, take handout materials and meet with Adriana Malheiro, MS* … Continue reading 
Posted by in ASCO, cancer, ClinVar, conferences, GTR, MedGen, Oncology, What's New
NCBI’s 3 Newest Medical Genetics Resources: GTR, MedGen & ClinVar
NCBI has three relatively new online resources for information about genetic tests, genetic conditions, and genetic variations: The Genetic Testing Registry, or GTR – a registry of genetic tests for heritable and somatic changes in humans MedGen – a medical … Continue reading 
Posted by in ClinVar, Genetic Testing Registry, GTR, MedGen, webinars, What's New