Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain
Version of Record online: 11 SEP 2013
© 2013 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Volume 13, Issue 1, pages 29–38, February 2014
How to Cite
Taylor, S. D., Ericson, N. G., Burton, J. N., Prolla, T. A., Silber, J. R., Shendure, J. and Bielas, J. H. (2014), Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain. Aging Cell, 13: 29–38. doi: 10.1111/acel.12146
- Issue online: 16 JAN 2014
- Version of Record online: 11 SEP 2013
- Accepted manuscript online: 2 AUG 2013 10:56AM EST
- Manuscript Accepted: 21 JUL 2013
- CDMRP/U.S. Department of Defense. Grant Numbers: W81XWH-10-1-0563, AG-NS-0577-09
- Ellison Medical Foundation. Grant Number: RO1 ES019319
- National Institute of Environmental Health Sciences of the National Institutes of Health. Grant Number: F32ES021703
- UW Genome Sciences
Fig. S1. Effect of primer concentration on amplified copy number.
Fig. S2. Relative recovery proportions at various stages of 3D analysis.
Fig. S3. 3D analysis of mtDNA isolated from PolgWT and PolgD257A knock-in mice.
Fig. S4. Analysis of mitochondrial DNA copy number from human brain tissue samples.
Fig. S5. Analysis of ddPCR droplet counts from sequenced patient samples.
Fig. S6. Deletion sites are not fully saturated.
Fig. S7. Distribution of positive droplets from ddPCR of human brain.
Fig. S8. High resolution analysis of deletion dynamics.
Data S1. Supplementary notes, methods and figures.
Data S1A. Optimization of amplification factors.
Data S1B. Residual amplification bias.
Data S1C. Biases inherent in downstream applications.
Data S1D. Validation in biological samples.
Data S1E. Validation of sampling and analysis.
Data S1F. Disruption of droplet emulsions
Data S2. Tables of all accepted deletions for each patient. Sequence data deposited in the NCBI Sequence Read Archive under project accession number SRP027401.
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