ClinGen Resource

Variant classification is the process of evaluating a genetic change’s relationship to health and disease. Check out GenomeConnect’s latest newsletter for an infographic summarizing variant classification: https://bit.ly/4crC6FW #geneticvariants #genechat. 

We are proud to share that a review of the ClinGen Resource gene curation infrastructure has been published in the Annual Reviews of Biomedical Data Science!  This open access paper reviews the work of ClinGen in developing a gene curation infrastructure with several objectives:  ✅ Fill the knowledge gap of the strength of evidence supporting the role of a gene in a monogenic disease ✅ Support the standardization and dissemination of gene-disease validity data ✅ Create frameworks that utilize common data standards Ultimately, ClinGen continues to build a publicly available, authoritative resource on the relationships between genes and human disease that can be accessed freely by the global community of precision medicine practitioners, researchers, patients and advocates. Read “Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms” here → https://lnkd.in/gJQDRujN

Missed any of GenomeConnect’s webinars this year? The recordings are available on our YouTube Playlist: https://bit.ly/4eUJoEH. #Genetics #genechat 

Does your laboratory classify somatic variants for cancer? Read about how you can share your somatic variants through ClinVar: https://ow.ly/fjYC50SSTQc

📢 The ClinGen Gene Curation workflow now supports the addition of ClinVar submissions as evidence for gene-disease validity curations: We are excited to announce a new element of the gene curation process, which is the ability to annotate, score, and publish the use of versioned ClinVar VCVs and SCVs for gene curation. This new feature is now included in our Gene Curation Interface (GCI) and further adds to the repertoire of data that can be included, and scored, in gene curations, beyond published manuscripts and/or articles.  We encourage those individuals with currently unpublished case level data to consider submitting the information (e.g., variant, phenotypes, disease assertion) to ClinVar so ClinGen can utilize it in gene, as well as variant curation. All curated evidence will appear on the ClinGen website (www.clinicalgenome.org). We would like to acknowledge the hard work of our ClinGen Stanford Development Team, our collaborators on the ClinGen GeneGraph, and the ClinGen Website teams for their support in ensuring end-to-end functionality of this feature across ClinGen systems! A guide for the new GCI feature is available here → https://lnkd.in/gXpJCNJX

We’re excited to share that now, when searching information about genes on ClinGen's website, users can see when there are GenomeConnect participant cases available in ClinVar for their gene of interest. Check out our video here: https://lnkd.in/ern-x56p

Now available! Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel: The American Journal of Human Genetics https://lnkd.in/eEWv8mcT Learn more about the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel at https://lnkd.in/enzBzBgE

Are you interested in genetics and volunteering with ClinGen Resource? ClinGen Baseline Annotation provides volunteers with the opportunity to review genetics literature and annotate important information for use in Expert Panel curations. Baseline annotators can work on their own schedules, and do not need in-depth genetics knowledge. Visit our Baseline Annotation website page to learn more about this opportunity, and to sign up to volunteer: https://bit.ly/3Wpw6so.  #genechat #genetics #datasharing 

During the final clinical genomics career panel webinar, individuals who held "stepping stone" opportunities that helped them gain skills & knowledge before further education/jobs discussed their experiences. View the recording here - https://bit.ly/4ay6AWx #genetics #sciencecareers

Join us for the FREE ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series, in collaboration w/ACMG. Register for the next live webinar, “Leveraging Large Language Models for Decision Support in Personalized Oncology,” taking place tomorrow, July 23 at 11 AM ET. https://bit.ly/3xTY3iR Learn how AI tools like ChatGPT are transforming oncology research and decision-making. Discover the future of precision oncology and earn CME credits! #cancergenetics