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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).
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
URL: https://doi.org/10.1007/978-1-0716-2922-2_27
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
