Currently inactive due to ownership of platform. Rare disease researcher and clinical lab director; MGH and @broadinstitute
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ALT Screenshot of Figure 1: The ClinGen expert curation ecosystem has developed into a uniquely synergistic andsupported global system. The green outer semicircle represents the foundational infrastructure of the consortium, including standards and frameworks, databases, tools, and curation interfaces to support standardized ClinGen curation. This enables the dissemination of ClinGen expert-curated knowledge to the public via the website and knowledgebases. The blue inner semicircle represents the ClinGen leadership and personnel who ensure high-quality curation through the consistent integration of and communication with the Expert Panels and providing ongoing support and intensive training and guidance. The cornerstone of ClinGen is its international network of global experts and biocurators who contribute to the creation of the curation work products to advance genomic medicine.
ALT Brief Report: Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene Facial features and findings on MRI of the brain in a child with CHASERR haploinsufficiency.
ALT Screenshot of article header that reads: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates Peter J. Freeman, John F. Wagstaff, Ivo F. A. C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton & Raymond Dalgleish Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.
ALT Heidi Rehm presenting to a big crown of genomics enthusiasts
