{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16"],"submitter":["Gorman E"],"pubmed_abstract":["Introduction
The molecular diagnosis of mitochondrial disorders is complicated by phenotypic variability, genetic heterogeneity, and the complexity of mitochondrial heteroplasmy. Next-generation sequencing (NGS) of the mitochondrial genome in combination with a targeted panel of nuclear genes associated with mitochondrial disease provides the highest likelihood of obtaining a comprehensive molecular diagnosis. To assess the clinical utility of this approach, we describe the results from a retrospective review of patients having dual genome panel testing for mitochondrial disease.Methods
Dual genome panel testing by NGS was performed on a cohort of 1,509 unrelated affected individuals with suspected mitochondrial disorders. This test included 163 nuclear genes associated wit"],"journal":["Frontiers in genetics"],"pagination":["1488956"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11920145"],"repository":["biostudies-literature"],"pubmed_title":["Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis."],"pmcid":["PMC11920145"],"pubmed_authors":["Rigobello R","Chen DCY","Feng Y","Neogi A","Eng CM","Gorman E","Liu P","Meng L","Wang Y","Craigen WJ","Dai H","Xia F"],"additional_accession":[]},"is_claimable":false,"name":"Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.","description":"Introduction
The molecular diagnosis of mitochondrial disorders is complicated by phenotypic variability, genetic heterogeneity, and the complexity of mitochondrial heteroplasmy. Next-generation sequencing (NGS) of the mitochondrial genome in combination with a targeted panel of nuclear genes associated with mitochondrial disease provides the highest likelihood of obtaining a comprehensive molecular diagnosis. To assess the clinical utility of this approach, we describe the results from a retrospective review of patients having dual genome panel testing for mitochondrial disease.Methods
Dual genome panel testing by NGS was performed on a cohort of 1,509 unrelated affected individuals with suspected mitochondrial disorders. This test included 163 nuclear genes associated wit","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2025-04-26T03:26:00.236Z","creation":"2025-04-06T10:45:25.703Z"},"accession":"S-EPMC11920145","cross_references":{"pubmed":["40110048"],"doi":["10.3389/fgene.2025.1488956"]}}