Torsten Schöneberg

SyMetrics evaluates the pathogenicity of synonymous variants using a machine learning model that integrates multiple predictors, achieving high accuracy in distinguishing deleterious from benign variants.

This study evaluates the diagnostic yield of monogenic obesity in 521 patients using exome-wide data, finding 5.8% with monogenic obesity and 7.1% with potentially obesogenic variants.

The paper shows that intron retention generates single transmembrane-helix isoforms of aGPCRs, enabling mechanosensory function through heteromerization with 7TM subunits.