Category Archives: medical genetics
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
NCBI at ACMG 2023
Join us March 14-18 in Salt Lake City, Utah We are excited to celebrate ClinVar’s 10th anniversary and look forward to seeing you in-person at the 2023 ACMG Annual Clinical Genetics Meeting, March 14-18, 2023, in Salt Lake City, Utah. We will participate in a variety of events and activities featuring our clinical and human … Continue reading NCBI at ACMG 2023
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
Ten reasons to submit to ClinVar
Wondering why 2,100 submitters from 83 countries have deposited more than 1.9 million records of their latest variation information in ClinVar? Curious about why genetic counselors, physicians, researchers, and so many others enthusiastically use data for nearly 1.2 million unique variants in ClinVar? Thinking about becoming part of this global community and sharing your knowledge … Continue reading Ten reasons to submit to ClinVar
The post Ten reasons to submit to ClinVar appeared first on NCBI Insights.
Posted by in ClinVar, human variant data, medical genetics, Submissions, 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
Improved ClinVar search quickly connects you to information about variants
If you’ve been searching in ClinVar, you might have noticed search improvements introduced in December that reliably connect you with information on your variant of interest. ClinVar has broadened its search capability to accept many different ways of expressing the … Continue reading
Posted by in ClinVar, dbSNP, medical genetics, Variation, What's New
Update single records easily with ClinVar’s Single SCV Update
The ClinVar Team is happy to announce a new online form in the ClinVar Submission Portal, the Single SCV Update, which makes it easier for you to update a single record. The new ClinVar Single SCV Update form showing the … Continue reading
Posted by in ClinVar, medical genetics, Submissions, Variation, 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