Tag: Genetic Testing Registry (GTR)

Using NCBI resources to research, detect, and treat genetic phenotypes

Clinical Genetics Information at Your Fingertips

NCBI offers a portfolio of medical genetics resources to help you research, diagnose, and treat diseases and conditions. You can easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. We also encourage you to join our community of thousands of submitters and share your germline and/or somatic data to advance discovery and optimize clinical care.

How and why should you use our resources? Consider the example below.

Your patient is a 40-year-old mother of two presenting with changes in bathroom habits, bleeding, and belly pain. She has a medical history of colonic polyps. Her family history reveals that her maternal grandmother, mother and uncle had several forms of cancers including colon, breast, and endometrium.

Continue reading “Using NCBI resources to research, detect, and treat genetic phenotypes” →

Identify conditions in ClinVar and Genetic Testing Registry with MONDO IDs

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.

Continue reading →

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 can meet our staff, get answers to your questions, and pick-up informative handouts on our various resources for clinical practice.

Also, be sure to visit our two posters on Friday, April 5 from 10:30 AM to 12 PM.

Continue reading “NCBI at the ACMG meeting in Seattle next week (April 2-6, 2019)” →

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 accurate results from search queries.

Some things you can do in MedGen:

Continue reading “MedGen: Your search engine for human medical genetics” →

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 (MGS), to help genetic counselors.

Next week, NCBI staff will be at the NSGC 2018 conference in Atlanta, GA. While there, you can chat in person with us at booth #700 to learn about our medical genetics resources and pick up helpful material. We’d also love to hear any other questions or feedback to help support you.

To stay up-to-date about NCBI staff at NSGC 2018 follow us on Twitter at @NCBI_Clinical ‏and @NCBI. For more information about other NCBI presentations at NSGC, check the Conferences and Presentations page.

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 for a description of each CoLab and join us at ASHG in two weeks!

Continue reading “NCBI at ASHG 2018: Data and Clinical CoLabs introduce interactive graphical displays and medical genetics resources” →

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 of the clinical significance for a genetic variant, and find tests relevant to a clinical feature, gene or disease. You will also learn which resource works best for different types of searches.

Date and time: Wed, Oct 10, 2018 12:00 PM – 12:45 PM EDT

Register

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.

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 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.

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 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.

Continue reading “NCBI’s 3 Newest Medical Genetics Resources: GTR, MedGen & ClinVar” →