Refinetti, PauloMorgenthaler, StephanEkstrom, Per O.2016-10-182016-10-182016-10-18201610.1016/j.mito.2016.04.006https://infoscience.epfl.ch/handle/20.500.14299/129895WOS:000379452700009Cycling temperature capillary electrophoresis has been optimised for mutation detection in 76% of the mitochondrial genome. The method was tested on a mixed sample and compared to mutation detection by next generation sequencing. Out of 152 fragments 90 were concordant, 51 discordant and in 11 were semi-concordant. Dilution experiments show that cycling capillary electrophoresis has a detection limit of 1-3%. The detection limit of routine next generation sequencing was in the ranges of 15 to 30%. Cycling temperature capillary electrophoresis detect and accurate quantify mutations at a fraction of the cost and time required to perform a next generation sequencing analysis. (C) 2016 The Authors. Elsevier B.V. and Mitochondria Research Society. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).Mitochondrial DNAHeteroplasmy quantificationCycling temperature capillary electrophoresisQuantitative biologyHigh throughputtext::journal::journal article::research article