Proteome-wide model for human disease genetics

Statistics and reproducibility

This study is based on analysis of large-scale sequencing and variant annotation datasets (UniRef⁵⁸, UKBB¹⁷, gnomAD¹⁸, ClinVar⁵⁹, ProteinGym²² and DD cohorts, including DDD⁶, GeneDx⁸, Radboud⁸, SPARK³⁶ and SSC³⁶). No…