Disease-associated genetic

Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families.

12p vibransone 28-03-2024 3 2   Download

Association studies using a single type of omics data have been successful in identifying diseaseassociated genetic markers, but the underlying mechanisms are unaddressed. To provide a possible explanation of how these genetic factors affect the disease phenotype, integration of multiple omics data is needed.

5p vihagrid 30-01-2023 5 3   Download