Collaborator: University of Vermont Cancer Center

• Expanding and automating the calibration of computational tools for clinical variant classification

  April 2, 2026

• REVElations: Uncovering hidden heterogeneity lurking in the generalized calibration of computational tools

  Presenting Author: Scott Pew, University of Utah

  April 2, 2026

• Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

• Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

• Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium

• Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

• Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

• Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

• Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer