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Genomic Strategies in Mitochondrial Diagnostics

Lookup NU author(s): Dr Dasha Deen, Dr Charlotte Alston, Professor Gavin Hudson, Professor Robert Taylor, Dr Angela Pyle


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

Publication metadata

Author(s): Deen D, Alston CL, Hudson G, Taylor RW, Pyle A

Editor(s): Nicholls TJ; Uhler JP; Falkenberg M

Publication type: Book Chapter

Publication status: Published

Book Title: Mitochondrial DNA

Year: 2023

Volume: 2615

Pages: 397-425

Print publication date: 27/03/2023

Online publication date: 21/02/2023

Acceptance date: 02/04/2022

Series Title: Methods in Molecular Biology

Publisher: Humana Press, Inc.

Place Published: New York


DOI: 10.1007/978-1-0716-2922-2_27

PubMed id: 36807806

Notes: 9781071629222 ebook ISBN

Library holdings: Search Newcastle University Library for this item

ISBN: 9781071629215