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

• 영문명: Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
• 발행기관: 대한의학유전학회
• 저자명: Yeonsong Choi David Whee-Young Choi Semin Lee
• 간행물 정보: 『대한의학유전학회지』제20권 제1호, 1~5쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2023.06.30

영문 초록

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.

목차

Introduction

Whole-Exome Sequencing vs. Whole-Genome Sequencing

RNA Sequencing

Bisulfite Sequencing

Assay for Transposase-Accessible Chromatin Using Sequencing

Conclusion

Acknowledgements

Authors’ Contributions

References

키워드

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