Fig. 1. Schematic diagram of multiple omics techniques for identifying various genomic and epigenomic features in rare diseases. WES, whole-exome sequencing; WGS, whole-genome sequencing; RNA-seq, RNA sequencing; BS-seq, Bisulfite sequencing; ATAC-seq, Assay for transposase-accessible chromatin using sequencing.
© 2023 Korean Society of Medical Genetics and Genomics
