Collaborator: University of Chicago

• Long read genome sequencing for cerebellar ataxia

  August 1, 2026

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

• Pathogenic variants in cancer susceptibility genes predispose to Ductal Carcinoma In situ of the breast

• Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

• Clinical laboratories collaborate to resolve variant interpretation differences in ClinVar

  April 2, 2026

• “Splicing it all together”: Discovery of a novel likely pathogenic CDH1 variant using RNA analysis

  Take home points:  Based on expert panel guidelines, pathogenic missense variants in CDH1 are rarely pathogenic. In this case, RNA evidence clarified that the c.944A>G (p.Asn315Ser) variant has a deleterious impact on splicing resulting in a predicted frameshift and alternate stop codon.    RNA’s Role in improving Variant interpretation and diagnostic yield: CDH1 variant found via…

  April 2, 2026

• Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C

• Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders

• The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change