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  4. Cycling temperature capillary electrophoresis: A quantitative, fast and inexpensive method to detect mutations in mixed populations of human mitochondrial DNA
 
research article

Cycling temperature capillary electrophoresis: A quantitative, fast and inexpensive method to detect mutations in mixed populations of human mitochondrial DNA

Refinetti, Paulo  
•
Morgenthaler, Stephan  
•
Ekstrom, Per O.
2016
Mitochondrion

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. (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/).

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Type
research article
DOI
10.1016/j.mito.2016.04.006
Web of Science ID

WOS:000379452700009

Author(s)
Refinetti, Paulo  
Morgenthaler, Stephan  
Ekstrom, Per O.
Date Issued

2016

Publisher

Elsevier Sci Ltd

Published in
Mitochondrion
Volume

29

Start page

65

End page

74

Subjects

Mitochondrial DNA

•

Heteroplasmy quantification

•

Cycling temperature capillary electrophoresis

•

Quantitative biology

•

High throughput

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
STAP  
Available on Infoscience
October 18, 2016
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/129895
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