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Genomic Strategies in Mitochondrial Diagnostics

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Mitochondrial DNA

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2615))

Abstract

Pathogenic variants in both mitochondrial and nuclear genes contribute to the clinical and genetic heterogeneity of mitochondrial diseases. There are now pathogenic variants in over 300 nuclear genes linked to human mitochondrial diseases. Nonetheless, diagnosing mitochondrial disease with a genetic outcome remains challenging. However, there are now many strategies that help us to pinpoint causative variants in patients with mitochondrial disease. This chapter describes some of the approaches and recent advancements in gene/variant prioritization using whole-exome sequencing (WES).

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Acknowledgments

Work in our laboratories is supported by the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), the Medical Research Council (MRC) International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the National Institute of Health Research (NIHR) Biomedical Research Centre in Age and Age Related Diseases award to the Newcastle upon Tyne Hospitals National Health Service (NHS) Foundation, the Lily Foundation, the Pathology Society and the NHS Highly Specialised Service for Rare Mitochondrial Disorders. CLA is supported by the National Institute for Health Research (NIHR) Post-Doctoral Fellowship (PDF-2018-11-ST2-021). Figure 1 was created with BioRender.com. The views expressed in this publication are those of the author(s) and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care.

Author information

Authors and Affiliations

  1. Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

    Dasha Deen, Charlotte L. Alston, Robert W. Taylor & Angela Pyle

  2. NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

    Charlotte L. Alston & Robert W. Taylor

  3. Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

    Gavin Hudson

Authors
  1. Dasha Deen
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  2. Charlotte L. Alston
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  3. Gavin Hudson
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  4. Robert W. Taylor
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  5. Angela Pyle
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Corresponding author

Correspondence to Angela Pyle .

Editor information

Editors and Affiliations

  1. Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK

    Thomas J. Nicholls

  2. Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden

    Jay P. Uhler

  3. Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden

    Maria Falkenberg

1 Electronic Supplementary Material

Supplementary File 1

Genomic coordinates of Mitocarta coding regions in IntervalList format (ZIP 66.5 kb)

Supplementary File 2

Ensembl Gene IDs for Mitocarta genes (CSV 27.2 kb)

Supplementary File 3

Commands used in this chapter, provided in .txt format (TXT 9.65 kb)

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© 2023 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature

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Deen, D., Alston, C.L., Hudson, G., Taylor, R.W., Pyle, A. (2023). Genomic Strategies in Mitochondrial Diagnostics. In: Nicholls, T.J., Uhler, J.P., Falkenberg, M. (eds) Mitochondrial DNA. Methods in Molecular Biology, vol 2615. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2922-2_27

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  • DOI: https://doi.org/10.1007/978-1-0716-2922-2_27

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-2921-5

  • Online ISBN: 978-1-0716-2922-2

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