한빛사논문
- 조회665
Dohun Yi 1, Jin-Wu Nam 1 2 3 4 *, Hyobin Jeong 1 3 4 *
1Department of Life Science, College of Natural Sciences, Hanyang University, Wangsimni-ro 222, Seongdong-gu, Seoul 04763, Republic of Korea.
2Research Institute for Convergence of Basic Sciences, Hanyang University, Wangsimni-ro 222, Seongdong-gu, Seoul 04763, Republic of Korea.
3Bio-BigData Center, Hanyang Institute of Bioscience and Biotechnology, Hanyang University, Wangsimni-ro 222, Seongdong-gu, Seoul 04763, Republic of Korea.
4Hanyang Institute of Advanced BioConvergence, Hanyang University, Wangsimni-ro 222, Seongdong-gu, Seoul 04763, Republic of Korea.
*Corresponding author: correspondence to Jin-Wu Nam or Hyobin Jeong
Abstract
Structural variants (SVs) are genomic rearrangements that can take many different forms such as copy number alterations, inversions and translocations. During cell development and aging, somatic SVs accumulate in the genome with potentially neutral, deleterious or pathological effects. Generation of somatic SVs is a key mutational process in cancer development and progression. Despite their importance, the detection of somatic SVs is challenging, making them less studied than somatic single-nucleotide variants. In this review, we summarize recent advances in whole-genome sequencing (WGS)-based approaches for detecting somatic SVs at the tissue and single-cell levels and discuss their advantages and limitations. First, we describe the state-of-the-art computational algorithms for somatic SV calling using bulk WGS data and compare the performance of somatic SV detectors in the presence or absence of a matched-normal control. We then discuss the unique features of cutting-edge single-cell-based techniques for analyzing somatic SVs. The advantages and disadvantages of bulk and single-cell approaches are highlighted, along with a discussion of their sensitivity to copy-neutral SVs, usefulness for functional inferences and experimental and computational costs. Finally, computational approaches for linking somatic SVs to their functional readouts, such as those obtained from single-cell transcriptome and epigenome analyses, are illustrated, with a discussion of the promise of these approaches in health and diseases.
논문정보
- Review Paper
- 2023년 08월 (BRIC 등록일 2023-08-18)
- 국내 연구진
- 생명과학 > 노화/암생물학
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