Genomic Strategies in Mitochondrial Diagnostics

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...

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Published inMethods in molecular biology (Clifton, N.J.) Vol. 2615; p. 397
Main Authors Deen, Dasha, Alston, Charlotte L, Hudson, Gavin, Taylor, Robert W, Pyle, Angela
Format Journal Article
LanguageEnglish
Published United States 2023
Subjects
Cell Nucleus
Exome
Exome Sequencing
Genomics
Humans
Mitochondrial Diseases - genetics
Clinical reporting
Genomics
Whole-exome sequencing
Variant annotation
Mitochondrial disease
Variant detection
Genetic diagnosis
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Summary: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).
ISSN:1940-6029
DOI:10.1007/978-1-0716-2922-2_27