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Hace 2 días · ClinGen is a resource that collects and curates evidence for gene-disease relationships, variant pathogenicity, clinical actionability, and dosage sensitivity. The web page provides high-level statistics on the number and classification of curations for each activity, as well as links to the curation reports and expert panels.
12 de jun. de 2024 · Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)
Hace 4 días · In summary, of the 549 burden genes absent from EPID_2022, 297 had no associated phenotype in OMIM, ClinGen and sysNDD and are thus without any current evidence of disease association.
30 de jun. de 2024 · ClinGen Gene Dosage Sensitivity Curation Variation Viewer Help. Links to Variation Viewer, a genome browser to view variation data from NCBI databases. Related variants HI score Help. The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. TS score ...
27 de jun. de 2024 · Genetic counselors in the Clinical Genetics Branch, Megan Frone, M.S., C.G.C., and Jessica Hatton, M.S., C.G.C., were recognized with 2024 Significant Contributor Awards by ClinGen, a National Institutes of Health-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and ...
17 de jun. de 2024 · The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.
Hace 6 días · An in vitro SCN5A–Brugada syndrome automated patch clamp assay was generated and independently studied at Vanderbilt University Medical Center and Victor Chang Cardiac Research Institute.The assay was calibrated according to ClinGen Sequence Variant Interpretation recommendations using high-confidence variant controls (n=49).
