Carl Schwendinger-Schreck

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

This study quantifies polygenic liability in rare disease probands and finds associations between rare disease phenotypes and polygenic scores, supporting complex trait influences on Mendelian variant interpretation.

Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores

The paper uses long-read whole genome sequencing and polygenic scores to identify structural variants linked to rare diseases and prioritize candidate genes for functional validation.

Pangenome graphs improve the analysis of rare genetic diseases

The paper uses pangenome graphs to improve detection of rare structural variants in a rare disease cohort, identifying novel diagnostic variants.

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.