title: Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing.
abstract: Next-generation sequencing (NGS) based on massively parallel sequencing (MPS) of the entire 16,569 bp mitochondrial genome generates thousands of reads for each nucleotide position. The high-throughput sequence data generated allow the detection of mitochondrial DNA (mtDNA) point mutations and deletions with the ability to accurately quantify the mtDNA point mutation heteroplasmy and to determine the deletion breakpoints. In addition, this method is particularly sensitive for the detection of low-level mtDNA large deletions and multiple deletions. It is by far the most powerful tool for molecular diagnosis of mtDNA disorders.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: Meagan E
authors.initials: ME
authors.lastname: Palculict
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: Victor Wei
authors.initials: VW
authors.lastname: Zhang
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: Lee-Jun
authors.initials: LJ
authors.lastname: Wong
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. j.wang7@bcm.edu.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
mesh_terms: D001483:Base Sequence / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D054629:Genome, Mitochondrial / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008928:Mitochondria / Q000235:genetics; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D017354:Point Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods*; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial
keywords: Massively parallel sequencing; Mitochondrial whole genome; Next-generation sequencing; mtDNA deletions; mtDNA mutation heteroplasmy