Fritz J. Sedlazeck

The impact of structural variation on Alzheimer’s disease in the Alzheimer’s disease sequencing project

Structural variants (SV), genomic alterations spanning more than 50 base pairs, can significantly impact gene expression and protein function. However, their contribution to Alzheimer’s disease (AD) remains poorly understood. Leveraging a novel SV calling pipeline, we identified...

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes

Tandem repeats play critical roles in human disease and phenotypic diversity but are among the most challenging classes of genomic variation to measure accurately. Long-read sequencing has the potential to accurately characterize long and complex tandem repeats. While an increasi...