Category Archives: ClinVar
ClinVar to offer improved support for somatic data
We need your input! ClinVar is NCBI’s archive of reports of the relationships among human genetic variations and diseases, with supporting evidence. To make ClinVar data more accurate and useful, we are introducing an enhanced data model to better accept and support classifications of somatic variants. How you can help Do you have somatic variant … Continue reading ClinVar to offer improved support for somatic data
Posted by in ClinVar, What's New
NEW! Streamlining ClinVar Submission of Assertion Criteria
ClinVar is a freely available submission-driven database for information about genomic variation and its relationship to human health. ClinVar holds more than 1.5 million variants, and is powered by submitters around the world, who provide us with their assessments, the evidence, and the criteria they use to guide their interpretation process and come to their … Continue reading NEW! Streamlining ClinVar Submission of Assertion Criteria
Posted by in ClinVar, Submissions, What's New
New ClinVar graphical display
Maps clinically significant variants by gene and position! ClinVar is a freely accessible, public archive of reports of the relationships between human variations and phenotypes, with supporting evidence at NLM/NCBI. To help you access your variants of interest quickly, ClinVar is introducing an all-new visualization tool in the search results. This graphical display provides an … Continue reading New ClinVar graphical display
Posted by in ClinVar, human variant data, Variation, What's New
NCBI ALFA Project at Bio-IT World 2022 Hackathon
Announcing the Allele Frequency Aggregator (ALFA) Project as part of the Bio-IT World 2022 Hackathon: Visualization of NCBI ALFA Variants Join NCBI at the Bio-IT World 2022 Hackathon on May 4-5, 2022 to learn about and work with data from our ALFA project! The primary goal of this hackathon project is to develop a novel … Continue reading NCBI ALFA Project at Bio-IT World 2022 Hackathon
The post NCBI ALFA Project at Bio-IT World 2022 Hackathon appeared first on NCBI Insights.
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 annotations now available in NCBI Genome Browsers
Do you need to know which of the many NCBI dbSNP variants annotated near your region of interest are likely to be functionally or clinically significant? Figure it out with the track labelled ‘ClinVar variants with precise endpoints’, available on sequence display viewers at NCBI, including the Genome Data Viewer (GDV) and Variation Viewer! This track shows variation … Continue reading ClinVar annotations now available in NCBI Genome Browsers
Posted by in ClinVar, Genome Data Viewer (GDV), Quick Tips, Variation Viewer
NCBI on YouTube: ClinVar API, check data with GaPTools, get genetic context with Sequence Viewer
Every so often, we gather our most recent videos in one post on the blog, for your convenience. Scroll down – and don’t forget to subscribe to our channel! Introducing GaPTools for dbGaP Submitters This video introduces new standalone software called GaPTools, which you can use to check your data before submitting to dbGaP. GaPTools … Continue reading NCBI on YouTube: ClinVar API, check data with GaPTools, get genetic context with Sequence Viewer
Automate your workflow with the ClinVar Submission API
ClinVar and our scientific and patient-care community rely on your submissions. With our new Application Programming Interface (API) for submissions, we’ve made it even easier for you to provide us with your most up-to-date classification of variants. The new RESTful API allows you to automate your submission workflow so that you can submit new records … Continue reading Automate your workflow with the ClinVar Submission API
Posted by in API, ClinVar, What's New
ClinVar Reaches One Million Variants!
ClinVar has become a go-to resource for the clinical genetics community. You have come to ClinVar to look for the reported clinical significance of human genetic variants that you’ve identified in clinical testing or through your research. You have researched the supporting evidence and publications to the benefit of the health and genetic science community . … Continue reading ClinVar Reaches One Million Variants!
Posted by in ClinVar, What's New