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Methods in molecular biology (Clifton, N.J.)
2023;2615 397-425.

Genomic Strategies in Mitochondrial Diagnostics.

Dasha Deen, Charlotte L Alston, Gavin Hudson, Robert W Taylor, Angela Pyle
Author Information
  1. Dasha Deen: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  2. Charlotte L Alston: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  3. Gavin Hudson: Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  4. Robert W Taylor: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  5. Angela Pyle: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. angela.pyle@newcastle.ac.uk.
PMID: 36807806 DOI: 10.1007/978-1-0716-2922-2_27

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).

Keywords

Clinical reporting Genetic diagnosis Genomics Mitochondrial disease Variant annotation Variant detection Whole-exome sequencing

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MeSH Term

Humans
Exome
Genomics
Mitochondrial Diseases
Exome Sequencing
Cell Nucleus
Journal Article Research Support, Non-U.S. Gov't
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