Gunnar Schmidt

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

This study evaluates the accuracy of next-generation sequencing in capturing allele frequencies for polygenic risk score loci in breast cancer, finding significant deviations affecting risk prediction.

GenOtoScope automates ACMG/AMP variant classification for congenital hearing loss, achieving higher accuracy and precision than existing tools.