Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders | Zendy

Hong Cui | Zendy; Fangyuan Li | Zendy; David Chen | Zendy; Guoli Wang | Zendy; Cavatina K. Truong | Zendy; Gregory M. Enns | Zendy; Brett H. Graham | Zendy; Margherita Milone | Zendy; Megan Landsverk | Zendy; Jing Wang | Zendy; Victor Wei Zhang | Zendy; Lee-Jun Wong | Zendy

Open Access

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Author(s) -

Hong Cui,

Fangyuan Li,

David Chen,

Guoli Wang,

Cavatina K. Truong,

Gregory M. Enns,

Brett H. Graham,

Margherita Milone,

Megan Landsverk,

Jing Wang,

Victor Wei Zhang,

Lee-Jun Wong

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2012.144

Subject(s) - heteroplasmy , mitochondrial dna , massive parallel sequencing , sanger sequencing , amplicon , biology , human mitochondrial genetics , mitochondrial disease , genetics , genome , dna sequencing , computational biology , dna , gene , polymerase chain reaction

The application of massively parallel sequencing technology to the analysis of the mitochondrial genome has demonstrated great improvement in the molecular diagnosis of mitochondrial DNA-related disorders. The objective of this study was to investigate the performance characteristics and to gain new insights into the analysis of the mitochondrial genome.

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