Category Archives: ClinVar
Submit Your Somatic Variation Data to ClinVar
NCBI’s ClinVar is now accepting submissions for somatic variants classified for cancer. As recently announced, we updated the ClinVar website as part of our effort to better support the display of submitted somatic variation data. Access to somatic variation data is essential for understanding tumor biology and will help researchers advance cancer treatment. It also … Continue reading Submit Your Somatic Variation Data to ClinVar
Posted by ClinVar, What's New
inEnhancements to ClinVar Website Now Live
As previously announced, we updated the ClinVar website as part of our effort to better support the display of submitted somatic variation data. What changed? Updated ClinVar search results Germline / Somatic origin filter Somatic Classification and Review Status summary Updated Variant (VCV) record page Includes both Germline and Somatic data for the same variant … Continue reading Enhancements to ClinVar Website Now Live
Posted by ClinVar, What's New
inComing Soon! Updates to the ClinVar Website
In order to support the inclusion of submitted somatic variation data, we are updating the ClinVar website. In early 2024, you will begin to see some changes. What will change? Variant (VCV) record pages will have an updated look and feel: Simpler layout with no tabs New sections will display somatic classifications Summary section will … Continue reading Coming Soon! Updates to the ClinVar Website
Posted by ClinVar, What's New
inUsing 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
Join NCBI at ASHG 2023
November 1-5 in Washington, D.C. We look forward to seeing you in person at the American Society for Human Genetics Annual Meeting (ASHG 2023), November 1-5, 2023, in Washington, D.C. We will participate in a variety of activities and events including hosting an exhibit booth where you can stop by to meet NCBI experts, ask questions, provide feedback, … Continue reading Join NCBI at ASHG 2023
ClinVar Partners with ClinGen to Review & Curate Submitted Records
Do you currently use or submit clinical variation data? NCBI now has a new mechanism to improve ClinVar data quality. Since ClinVar’s founding over 10 years ago, the amount of information in this free resource has expanded dramatically with submissions from research and clinical laboratories all over the world. Because of the large volume of … Continue reading ClinVar Partners with ClinGen to Review & Curate Submitted Records
Posted by ClinVar, What's New
inComing Soon to ClinVar! Somatic Variants & Changes to the XML
Do you rely on ClinVar XML files for your application or analytical pipeline? We are significantly updating ClinVar’s XML format to support the inclusion of new somatic variation data provided by submitters. In the coming months, you may need to make changes to your tool or pipeline code to continue to use the ClinVar XML. … Continue reading Coming Soon to ClinVar! Somatic Variants & Changes to the XML
Posted by API, ClinVar, What's New
inCelebrating 10 Years of ClinVar: Why it is More Important Than Ever!
Identifying genetic variants and their impact on health is key to tailoring patient care. However, most variants are rare! As such, it is imperative for health care professionals to compare findings from multiple labs, examine evidence, and read related publications to provide accurate interpretations of genetic testing results as well as to develop treatment plans … Continue reading Celebrating 10 Years of ClinVar: Why it is More Important Than Ever!
Posted by ClinVar, What's New
inNCBI 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
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 ClinVar, What's New
in