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Chen R, Aldred MA, Xu W, et al. Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA. Mitochondrion. 2021;58:303-310doi: 10.1016/j.mito.2021.01.006.
Chen, R., Aldred, M. A., Xu, W., Zein, J., Bazeley, P., Comhair, S. A. A., Meyers, D. A., Bleecker, E. R., Liu, C., Erzurum, S. C., Hu, B. (2021). Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA. Mitochondrion, 58303-310. https://doi.org/10.1016/j.mito.2021.01.006
Chen, Ruoying, et al. "Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA." Mitochondrion vol. 58 (2021): 303-310. doi: https://doi.org/10.1016/j.mito.2021.01.006
Chen R, Aldred MA, Xu W, Zein J, Bazeley P, Comhair SAA, Meyers DA, Bleecker ER, Liu C, Erzurum SC, Hu B. Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA. Mitochondrion. 2021 May;58:303-310. doi: 10.1016/j.mito.2021.01.006. Epub 2021 Jan 26. PMID: 33513442; PMCID: PMC8354572.
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Mitochondrion. 2021 May;58:303-310. doi: 10.1016/j.mito.2021.01.006. Epub 2021 Jan 26.

Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA.

Mitochondrion

Ruoying Chen, Micheala A Aldred, Weiling Xu, Joe Zein, Peter Bazeley, Suzy A A Comhair, Deborah A Meyers, Eugene R Bleecker, Chunyu Liu, Serpil C Erzurum, Bo Hu,

Affiliations

  1. Department of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
  2. Division of Pulmonary, Critical Care, Sleep, and Occupational Medicine, Department of Medicine, Indiana University, Indianapolis, IN, USA.
  3. Department of Inflammation and Immunity, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
  4. Respiratory Institute, Cleveland Clinic, Cleveland, OH, USA.
  5. Department of Medicine, University of Arizona, Tucson, AZ, USA.
  6. Department of Biostatistics, Boston University, Boston, MA, USA.
  7. Department of Inflammation and Immunity, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA; Respiratory Institute, Cleveland Clinic, Cleveland, OH, USA. Electronic address: [email protected].
  8. Department of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA. Electronic address: [email protected].

PMID: 33513442 PMCID: PMC8354572 DOI: 10.1016/j.mito.2021.01.006

Abstract

Mitochondrial dysfunction has emerged to be associated with a broad spectrum of diseases, and there is an increasing demand for accurate detection of mitochondrial DNA (mtDNA) variants. Whole genome sequencing (WGS) has been the dominant sequencing approach to identify genetic variants in recent decades, but most studies focus on variants on the nuclear genome. Whole genome sequencing is also costly and time consuming. Sequencing specifically targeted for mtDNA is commonly used in the diagnostic settings and has lower costs. However, there is a lack of pairwise comparisons between these two sequencing approaches for calling mtDNA variants on a population basis. In this study, we compared WGS and mtDNA-targeted sequencing (targeted-seq) in analyzing mitochondrial DNA from 1499 participants recruited into the Severe Asthma Research Program (SARP). Our study reveals that targeted-sequencing and WGS have comparable capacity to determine genotypes and to call haplogroups and homoplasmies on mtDNA. However, there exists a large variability in calling heteroplasmies, especially for low-frequency heteroplasmies, which indicates that investigators should be cautious about heteroplasmies acquired from different sequencing methods. Further research is highly desired to improve variant detection methods for mitochondrial DNA.

Copyright © 2021 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Keywords: Asthma; Mitochondrial DNA; Targeted sequencing; Whole genome sequencing

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