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Workflow of this study. Abbreviations: MGP, Medical Genome Project; 1KGP, 1000 Genomes Project; 1KGP_noIBS, 1000 Genomes Project without Iberian population; gnomAD, Genome Aggregation Database; MAF, minor allele frequency; SNV, single nucleotide variant; SNP, single nucleotide polymorphism; WGS, whole genome sequencing; WES, whole exome sequencing; LoF, Loss-of-function; HPO, Human Phenotype Ontology; BP, biological process.
