Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Multi-omics techniques for the genetic and epigenetic analysis of rare diseases

  • Yeonsong Choi (Department of Biomedical Engineering, Ulsan National Institute of Science and Technology) ;
  • David Whee-Young Choi (Department of Biomedical Engineering, Ulsan National Institute of Science and Technology) ;
  • Semin Lee (Department of Biomedical Engineering, Ulsan National Institute of Science and Technology)
  • Received : 2022.11.23
  • Accepted : 2023.02.22
  • Published : 2023.06.30
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Abstract

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 next-generation 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 whole-genome 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.

Keywords

Acknowledgement

This research was supported by the National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT) (NRF-2020M3E5D7115320). This research was also partly supported by Basic Science Research Program through the NRF funded by the Ministry of Education (NRF-2021R1A6A3A13045998 to Y.C.).

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