Arjen R. Mensenkamp

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

The paper identifies APC mosaicism in patients with colorectal adenomas, finds higher prevalence in those meeting hereditary polyposis guidelines, and recommends targeted testing and surveillance.

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.