Deep familial phenotyping and genotyping to resolve phenotypic variability of inherited pathogenic genetic variants KU Leuven
The high burden of de novo pathogenic genetic variants in sporadic patients with rare developmental disorders (DD) has led to a de novo paradigm in genetic research and diagnostics. Genetic variants inherited from an unaffected parent are typically disregarded in variant interpretation pipelines. However, we are confronted with a growing list of rare inherited variants, that are enriched in patient versus control cohorts. Mechanisms underlying ...