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Mitochondrial DNA Sequences
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Reference # Seqs Sequences available
Mitomap's variants Note: data from the new 2018 sequence sets will be added by the end of January. 32,059 GenBank ID set (Click to open or right-click to download.) This is a csv file which lists the GB IDs ≥15.4 kb analyzed in Mitomap's June 2017 GenBank run.

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30,641 Fasta file - zipped single file of 30,641 human mtDNA sequences ≥15.4 kb collected from GenBank on 10 August, 2015 sequence archive updated 18 Feb 2016 24,275 Phylotree database of sequences
Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M. and Howell, N. (1999). "Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA". Nature Genetics 23(2):147.

Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J., Staden, R. and Young, I. G. (1981). "Sequence and organization of the human mitochondrial genome". Nature 290(5806):457-465.
1 rCRS.fasta: the "Revised Cambridge Reference Sequence"

See also the rCRS info page
Behar, D. M., van Oven, M., Rosset, S., Metspalu, M., Loogvali, E.-L., Silva, N. M., Kivisild, T., Torroni, A. and Villems, R. (2012). "A "Copernican" reassessment of the human mitochondrial DNA tree from its root". American Journal of Human Genetics 90(4):675-684. 1 RSRS.fasta: the "Reconstructed Sapiens Reference Sequence"
Annunen-Rasila, J., Finnila, S., Mykkanen, K., Moilanen, J. S., Veijola, J., Poyhonen, M., Viitanen, M., Kalimo, H. and Majamaa, K. (2006). "Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL." Neurogenetics 7(3):185-194. 77 Coding region sequences (NCBI)
nt. pos. 577-16023
Zip archive (Phylotree)
Kim, S. K., Gignoux, C. R., Wall, J. D., Lum-Jones, A., Wang, H., Haiman, C. A., Chen, G. K., Henderson, B. E., Kolonel, L. N., Le Marchand, L., Stram, D. O., Saxena, R. and Cheng, I. (2012). "Population genetic structure and origins of Native Hawaiians in the multiethnic cohort study" PLoS ONE 7(11):e47881. 160 FASTA file, zipped from author
Kivisild, T., Shen, P., Wall, D. P., Do, B., Sung, R., Davis, K., Passarino, G., Underhill, P. A., Scharfe, C., Torroni, A., Scozzari, R., Modiano, D., Coppa, A., de Knijff, P., Feldman, M., Cavalli-Sforza, L. L. and Oefner, P. J. (2006). "The role of selection in the evolution of human mitochondrial genomes."   Genetics 172(1):373-387. 277 Coding region sequences (NCBI)
nt. pos. 436-16021
Zip archive (Phylotree)
Topic revision: r9 - 17 Jan 2018, MarieLott
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