Fig. 7
From: An explainable dataset linking facial phenotypes and genes to rare genetic diseases
Fine-grained features importance. Key genomic features (e.g., exon count, chromosomal location) and distinctive facial phenotypes are critical diagnostic parameters. This underscores the necessity of integrating genomic profiling with phenotypic evaluation for precise diagnosis. Furthermore, patient-specific factors including ethnicity and geographic origin must be considered, as certain diseases exhibit population-stratified prevalence patterns requiring individualized diagnostic frameworks.
