Abstract：
:Cycling 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.
journal_name
Mitochondrionjournal_title
Mitochondrionauthors
Refinetti P,Morgenthaler S,Ekstrøm POdoi
10.1016/j.mito.2016.04.006subject
Has Abstractpub_date
2016-07-01 00:00:00pages
65-74eissn
1567-7249issn
1872-8278pii
S1567-7249(16)30038-1journal_volume
29pub_type
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