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