P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis

In medical genetics, phenotypes are crucial, serving as the external expressions of underlying genotypes. This relationship underscores that understanding phenotypes is essential for effective genetic research, as encapsulated in the saying, “Phenotype is king, genotype is queen.” Advances in next-generation sequencing, such as exome and genome sequencing, have significantly enhanced our ability to detect genomic variants. The American College of Medical Genetics and Genomics (ACMG) provides guidelines for interpreting these variants, reinforcing a phenotype-driven approach to genomic data analysis.