: Using in silico algorithms to predict whether a specific amino acid change affects protein function.
: Using high-fidelity long-read sequencing to identify complex genetic changes, such as those found in the Korean Draft Genomes study. HT.Jiwon.1.var
: Tools like UniVar and wANNOVAR are commonly used to interpret the pathogenicity of such variants in rare diseases. Related Research Areas Content surrounding this identifier usually involves: : Using in silico algorithms to predict whether