sextreff in Clingen

Consortium. The following groups are receiving grants: Heidi. ClinGen Working Groups, working Group, chairs, description. ClinGen investigators are developing standard approaches for sharing genomic and phenotypic data provided by clinicians, researchers, and patients through centralized databases, such as ClinVar, and are working to standardize the clinical annotation and interpretation of genomic variants. . The Clinical Genome (ClinGen) Resource, background, medical and research centers are increasingly sequencing exomes or whole genomes of patients. This partnership includes significant efforts in data sharing, data archiving, and collaborative curation to characterize and disseminate the clinical relevance of genomic variation. Standardize clinical annotation and interpretation of variants. Disseminate the collective knowledge/resources and ensure EHR interoperability. Rehm, Broad Institute; David. Org/ ClinAction Workshop: ClinVar:.gov/clinvar/ GenomeConnect: Papers Gelb BD, Cavé H, Dillon MW, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Williams B, Zenker M, Vincent LM8.

This resource is essential for advancing the goals of implementing genomics in clinical care and will improve the understanding of phenotypic and functional effects of genetic variants and their clinical value. Share genomic and phenotypic data through centralized databases for clinical and research use. Implement evidence-based expert consensus for curation of clinical validity. Improve understanding of variation in diverse populations. PubMed Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin. Develop machine-learning algorithms to improve the throughput of variant interpretation.