An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience | Zendy

Jing Wang | Zendy; Eric Schmitt | Zendy; Megan Landsverk | Zendy; Victor Wei Zhang | Zendy; Fangyuan Li | Zendy; Brett H. Graham | Zendy; William J. Craigen | Zendy; LeeJun C. Wong | Zendy

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An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience

Author(s) -

Jing Wang,

Eric Schmitt,

Megan Landsverk,

Victor Wei Zhang,

Fangyuan Li,

Brett H. Graham,

William J. Craigen,

LeeJun C. Wong

Publication year - 2012

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.2012.4

Subject(s) - heteroplasmy , mitochondrial dna , genetics , in silico , biology , penetrance , computational biology , genome , mitochondrial disease , dna sequencing , bioinformatics , phenotype , dna , gene

The mitochondrial genome is highly polymorphic. A unique feature of deleterious mitochondrial DNA (mtDNA) mutations is heteroplasmy. Genetic background and variable penetrance also play roles in the pathogenicity for a mtDNA variant. Clinicians are increasingly interested in requesting mtDNA testing. However, interpretation of uncharacterized mtDNA variants is a great challenge. We suggest a stepwise interpretation procedure for clinical service.

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