Matthias Haimel

SvAnna predicts pathogenicity of structural variants in long-read sequencing data by integrating transcript and regulatory annotations with clinical phenotype data, achieving high accuracy in prioritizing pathogenic variants.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.