Collaborator: University of Utah

• A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

• Clinically important endpoints in individuals with leukodystrophy: A multisite study

• Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

• 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

• Integration of Protein Stability and Alpha Missense Scores Improves Bioinformatic Impact Prediction for p53 Missense and In-Frame Amino Acid Deletion Variants

• Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

• STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

• Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

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