Christian M. Hagen

This paper introduces DoBSeq, a low-cost framework for detecting rare variants in population-scale genetic screening, achieving 95% variant detection and recovering all clinically relevant pathogenic variants in ACMG genes.

DoBSeqWF is a pipeline for analyzing pooled sequencing data to detect rare genetic variants, improving sensitivity with machine learning filters.

This study investigates genetic variants in hydrocephalus patients and finds associations with ciliopathies and autism spectrum disorder using the iPSYCH cohort.

This study investigates the association between mitochondrial DNA haplogroups and hydrocephalus using a nested case-cohort design, finding no significant association.

The paper reanalyzes mtDNA SNPs associated with schizophrenia in Danish populations, finding significant bi-genomic linkage disequilibrium that may confound disease associations.

The paper analyzes the spatio-temporal distribution and genogeographic affinity of mitochondrial DNA haplogroups in 24,216 Danes, finding increased frequencies of certain haplogroups linked to immigration.