NCBI at the ACMG meeting in Seattle next week (April 2-6, 2019)

In about a week, NCBI staff will join GeneReviews® on their home turf, Seattle, at the Annual Clinical Genetics Meeting hosted by the American College of Medical Genetics and Genomics (ACMG). While there we will have an exhibit booth (#531) where you … Continue reading

MedGen: Your search engine for human medical genetics

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 … Continue reading

NCBI presents resources for genetic counselors at NSGC 2018

Today, November 8, National Society of Genetic Counselors (NSGC) celebrates the second annual Genetic Counselor Awareness Day. At NCBI, we’ve been working hard to provide and improve resources, such as MedGen, Genetic Testing Registry (GTR), ClinVar, and Medical Genetics Summaries … Continue reading

Discover GTR at AMP 2018 (Nov 1-3)

Starting this Thursday, November 1st, NCBI staff from projects like ClinVar, GTR, MedGen, Medical Genetics Summaries and OSIRIS will be ready to hear your feedback at the Association for Molecular Pathology (AMP) 2018 Annual Meeting & Expo in San Antonio, … Continue reading

NCBI at ASHG 2018: Data and Clinical CoLabs introduce interactive graphical displays and medical genetics resources

As you know, NCBI will be attending American Society of Human Genetics (ASHG) 2018 in San Diego. This year, we have two CoLabs – interactive sessions where you can learn about freely available NCBI tools and resources. Read on below … Continue reading

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

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

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

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