Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing
Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Nucleic Acids Research 2010, 39: 44-58. PMID: 20843780, PMCID: PMC3017602, DOI: 10.1093/nar/gkq750.Peer-Reviewed Original ResearchConceptsDNA variantsFunctional DNA variantsMitochondrial DNA maintenanceRare DNA variantsSecond-generation sequencing technologiesNovel rare variantsSanger capillary sequencingSynergistic genetic effectsNuclear candidate genesDNA maintenanceRare variantsGenomic variationSequencing technologiesRare heterozygous variantsCandidate genesGenetic effectsFalse discovery rateMitochondrial disordersCapillary sequencingSequence verificationGenesNovel statistical methodSequencingDiscovery rateHeterozygous variants