Category Archives: MedGen
MedGen Users, We Want Your Feedback!
Do you use NCBI’s MedGen? If so, then you probably know it’s NCBI’s one-stop-shop for genetic phenotype information. If you are a healthcare provider, genetic professional, researcher, or anyone who uses MedGen, we want to hear from you to help us make this resource better meet your needs! We want to know: How you currently … Continue reading MedGen Users, We Want Your Feedback!
Posted by in ClinVar, Genetic Testing Registry (GTR), MedGen, What's New
Using NCBI Resources for Genotype-Based Medication Optimization
NCBI offers a variety of clinical genetic resources to help you research, diagnose, and treat diseases and conditions. You can quickly and easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. How and why should you use our resources? Consider the example below. Your patient is … Continue reading Using NCBI Resources for Genotype-Based Medication Optimization
Connect with NCBI at ASHG 2022
Join us October 25-29 in Los Angeles, CA We are looking forward to seeing you in-person at the American Society of Human Genetics (ASHG) annual meeting, October 25-29, 2022, in Los Angeles, California. We will present a variety of talks and posters featuring our clinical and human genetic resources, as well as genome products and … Continue reading Connect with NCBI at ASHG 2022
Posted by in Basic Local Alignment Search Tool (BLAST), Comparative Genomics Resource (CGR), Database of Genotypes and Phenotypes (dbGaP), Datasets, Gene, Genome Data Viewer (GDV), Matched Annotation from NCBI and EMBL-EBI (MANE), MedGen, medical genetics, Multiple Sequence Alignment Viewer (MSAV), What's New
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 … Continue reading Using NCBI resources to research, detect, and treat genetic phenotypes
The post Using NCBI resources to research, detect, and treat genetic phenotypes appeared first on NCBI Insights.
Posted by in ACMG2022, clinicaltrials.gov, ClinVar, Database of Genotypes and Phenotypes (dbGaP), dbGaP Allele Frequency Aggregator (ALFA), GeneReviews, Genetic Testing Registry (GTR), MedGen, Medical Genetic Summaries (MGS), medical genetics, Single Nucleotide Polymorphism Database (dbSNP), What's New
ClinVar’s new XML aggregated by Variation ID
Now it’s easier than ever to access all data in ClinVar for a variant or set of variants across all reported diseases. ClinVar’s new XML is organized by variant only (Variation ID), instead of the variant-disease pair. This reduces redundancy, … Continue reading
Posted by in ClinVar, MedGen, medical genetics, Variation, What's New
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
Posted by in ClinVar, conferences, Genetic Testing Registry, MedGen, Medical Genetic Summaries, What's New
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
Posted by in ClinVar, GeneReviews, Genetic Testing Registry, GTR, MedGen, medical genetics, NSGC, pharmacogenetics, What's New
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
Posted by in ClinVar, Genetic Testing Registry, MedGen, Medical Genetic Summaries, NSGC, What's New
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
Posted by in AMP, ClinVar, GTR, MedGen, Medical Genetic Summaries, OSIRIS, What's New
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
Posted by in ASHG, ClinVar, GDV, Genetic Testing Registry, Genome Data Viewer, GTR, MedGen, Medical Genetic Summaries, Variation, Variation Viewer, What's New