J Genet Med.  2023 Jun;20(1):1-5. 10.5734/JGM.2023.20.1.1.

Multi-omics techniques for the genetic and epigenetic analysis of rare diseases

  • 1Department of Biomedical Engineering, Ulsan National Institute of Science and Technology, Ulsan, Korea
  • 2Korean Genomics Center, Ulsan National Institute of Science and Technology, Ulsan, Korea


Until now, rare disease studies have mainly been carried out by detecting simple variants such as single nucleotide substitutions and short insertions and deletions in protein-coding regions of disease-associated gene panels using diagnostic nextgeneration sequencing in association with patient phenotypes. However, several recent studies reported that the detection rate hardly exceeds 50% even when whole-exome sequencing is applied. Therefore, the necessity of introducing wholegenome sequencing is emerging to discover more diverse genomic variants and examine their association with rare diseases. When no diagnosis is provided by whole-genome sequencing, additional omics techniques such as RNA-seq also can be considered to further interrogate causal variants. This paper will introduce a description of these multi-omics techniques and their applications in rare disease studies.


Rare diseases; Multi-omics; Exome sequencing; Whole genome sequencing; RNA sequencing; Bisulfite sequencing; ATAC-seq
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