O29: Characterization of liver disease in RASopathies

between GRCh37 vs GRCh38 in known disease genes for both exome sequencing and RNA-seq as well as fixed errors in the GRCh38 reference.Further, GREGoR has demonstrated >70% VUS reclassification rates by employing Multiplexed Assays of Variant Effects (MAVEs) and reduced variant classification disparities.Additionally, GREGoR has led or contributed to 79 papers studying molecular diagnoses in 335 genes with greater than half being novel disease gene discoveries or phenotypic expansions.GREGoR is accelerating data sharing, with omics from 7,400 families now available for research through the NHGRI AnVIL cloud-computing platform including ~400 families with matched short-read genome sequencing and RNA-seq and ~200 families with matched short-read genome sequencing and long-read genome sequencing. Conclusion:In conclusion, GREGoR is focused on accelerating rare disease genomics through application of emerging genomic tools, data sharing, and multiomics integration.By enhancing diagnostic methodologies and prioritizing data accessibility, GREGoR fosters continued advancements in identifying causal variants and elucidating the genetic basis of rare diseases to define the next frontier in rare disease diagnosis and research.