References
- Schnable P.S., Ware D., Fulton R.S., Stein J.C., Wei F., Pasternak S., Liang C., Zhang J., Fulton L., Graves T.A., et al. The B73 maize genome: complexity, diversity, and dynamics. Science. 2009;326:1112–1115. doi: 10.1126/science.1178534
- de Koning A.P., Gu W., Castoe T.A., Batzer M.A., Pollock D.D. Repetitive elements may comprise over two-thirds of the human genome. PLoS Genet. 2011;7. Article No. e1002384. doi: 10.1371/journal.pgen
- Lander E.S., Linton L.M., Birren B., Nusbaum C., Zody M.C., Baldwin J., Devon K., Dewar K., Doyle M., FitzHugh W. et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860–921. doi: 10.1038/35057062
- Orgel L.E., Crick F.H. Selfish DNA: the ultimate parasite. Nature. 1980;284:604–607. doi: 10.1038/284604a0
- Hannan A.J. Tandem repeat polymorphisms: mediators of genetic plasticity, modulators of biological diversity and dynamic sources of disease susceptibility. Adv. Exp. Med. Biol. 2012;769:1–9. doi: 10.1007/978-1-4614-5434-2_1
- Charlesworth B., Sniegowski P., Stephan W. The evolutionary dynamics of repetitive DNA in eukaryotes. Nature. 1994;371:215–220. doi: 10.1038/371215a0
- Davidson E.H., Britten R.J. Regulation of gene expression: possible role of repetitive sequences. Science. 1979;204:1052–1059. doi: 10.1126/science.45154
- Mirkin S.M. Expandable DNA repeats and human disease. Nature. 2007;447:932–940. doi: 10.1038/nature05977
- Gymrek M., Willems T., Guilmatre A. Abundant contribution of short tandem repeats to gene expression variation in humans. Nat. Genet. 2016;48:22–29. doi: 10.1038/ng.3461
- Hannan A.J. Tandem repeats mediating genetic plasticity in health and disease. Nat. Rev. Genet. 2018;19:286–298. doi: 10.1038/nrg.2017.115
- Vollger M.R., Dishuck P.C., Sorensen M., Welch A.E., Dang V., Dougherty M.L., Graves-Lindsay T.A., Wilson R.K., Chaisson M.J.P., Eichler E.E. Long-read sequence and assembly of segmental duplications. Nat. Methods. 2019;16:88–94. doi: 10.1038/s41592-018-0236-3
- Nurk S., Koren S., Rhie A., Rautiainen M., Bzikadze A.V., Mikheenko A., Vollger M.R., Altemose N., Uralsky L., Gershman A., et al. The complete sequence of a human genome. Science. 2022;376:44–53. doi: 10.1126/science.abj6987
- Feng C., Dai M., Liu Y., Chen M. Sequence repetitiveness quantification and de novo repeat detection by weighted k-mer coverage. Brief Bioinform. 2021;22. Article No. bbaa086. doi: 10.1093/bib/bbaa086
- Smit A., Hubley R., Green P. RepeatMasker. https://www.repeatmasker.org/ (accessed 15.06.2025).
- Bao W., Kojima K.K., Kohany O. Repbase Update, a database of repetitive elements in eukaryotic genomes. Mob. DNA. 2015;6. Article No. 11. doi: 10.1186/s13100-015-0041-9
- Agarwal P., States D.J. The Repeat Pattern Toolkit (RPT): analyzing the structure and evolution of the C. elegans genome. Proc. Int. Conf. Intell. Syst. Mol. Biol. 1994;2:1–9.
- Bao Z., Eddy S.R. Automated de novo identification of repeat sequence families in sequenced genomes. Genome Res. 2002;12:1269–1276. doi: 10.1101/gr.88502
- Edgar R.C., Myers E.W. PILER: identification and classification of genomic repeats. Bioinformatics. 2005;21(Suppl 1):i152–i158. doi: 10.1093/bioinformatics/bti1003
- Kurtz S., Schleiermacher C. REPuter: fast computation of maximal repeats in complete genomes. Bioinformatics. 1999;15:426–427. doi: 10.1093/bioinformatics/15.5.426
- Kurtz S., Choudhuri J.V., Ohlebusch E., Schleiermacher C., Stoye J., Giegerich. REPuter: The manifold applications of repeat analysis on a genomic scale. Nucleic Acids Res. 2001;29:4633–4642. doi: 10.1093/nar/29.22.4633
- Delcher A.L., Kasif S., Fleischmann R.D., Peterson J., White O., Salzberg S.L. Alignment of whole genomes. Nucleic Acids Res. 1999;27:2369–2376. doi: 10.1093/nar/27.11.2369
- Volfovsky N., Haas B.J., Salzberg S.L. A clustering method for repeat analysis in DNA sequences. Genome Biol. 2001. V.2. Article No. RESEARCH0027. doi: 10.1186/gb-2001-2-8-research0027
- Price A.L., Jones N.C., Pevzner P.A. De novo identification of repeat families in large genomes. Bioinformatics. 2005;21(Suppl 1):i351– i358. doi: 10.1093/bioinformatics/bti1018
- Achaz G., Boyer F., Rocha E.P., Viari A., Coissac E. Repseek, a tool to retrieve approximate repeats from large DNA sequences. Bioinformatics. 2007;23:19–21. doi: 10.1093/bioinformatics/btl519
- Sharma D., Issac B., Raghava G., Ramaswamy R. Spectral Repeat Finder (SRF): identification of repetitive sequences using Fourier transformation. Bioinformatics. 2004;20:1405–1412. doi: 10.1093/bioinformatics/bth103
- Pevzner P.A., Tang H., Tesler G. De novo repeat classification and fragment assembly. Genome Res. 2004;14:1786–1796. doi: 10.1101/gr.2395204
- Lefebvre A., Lecroq T., Dauchel H., Alexandre J. FORRepeats: detects repeats on entire chromosomes and between genomes. Bioinformatics. 2003;19:319–326. doi: 10.1093/bioinformatics/btf843
- Figueroa N., Liu X.,Wang J., Karro J. RAIDER: rapid ab initio detection of elementary repeats. In: Advances in Bioinformatics and Computational Biology. BSB 2013. Eds. Setubal J.C., Almeida N.F. Recife, Pernambuco, Brazil: Springer, 2013. P. 170–180. (Lecture Notes in Computer Science, V. 8213). doi: 10.1007/978-3-319-02624-4_16
- Schaeffer C.E., Figueroa N.D., Liu X., Karro J.E. phRAIDER: pattern-hunter based rapid ab initio detection of elementary repeats. Bioinformatics. 2016;32:i209–i215. doi: 10.1093/bioinformatics/btw258
- Zheng J., Lonardi S. Discovery of repetitive patterns in DNA with accurate boundaries. In: Fifth IEEE Symposium on Bioinformatics and Bioengineering (BIBE’05). Minneapolis, Minnesota, USA: IEEE, 2005. P. 105–112. doi: 10.1109/BIBE.2005.23
- Shi J., Liang C. Generic Repeat Finder: a high-sensitivity tool for genome-wide de novo repeat detection. Plant Physiol. 2019;180:1803–1815. doi: 10.1104/pp.19.00386
- Healy J., Thomas E.E., Schwartz J.T., Wigler M. Annotating large genomes with exact word matches. Genome Res. 2003;13:2306–2315. doi: 10.1101/gr.1350803
- Morgulis A., Gertz E.M., Schäffer A.A., Agarwala R. WindowMasker: window-based masker for sequenced genomes. Bioinformatics. 2006;22:134–141. doi: 10.1093/bioinformatics/bti774
- Kurtz S., Narechania A., Stein J.C., Ware D. A new method to compute K-mer frequencies and its application to annotate large repetitive plant genomes. BMC Genomics. 2008;9. Article No. 517. doi: 10.1186/1471-2164-9-517
- Girgis H.Z. Red: an intelligent, rapid, accurate tool for detecting repeats de-novo on the genomic scale. BMC Bioinformatics. 2015;16. Article No. 227. doi: 10.1186/s12859-015-0654-5
- Benson G. Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res. 1999;27:573–580. doi: 10.1093/nar/27.2.573
- Benson G. Sequence Alignment with Tandem Duplication. J. Comput. Biol. 1997;4:351–367. doi: 10.1089/cmb.1997.4.351
- Nazipova N., Teplukhina E. Genome-wide technology for revealing fuzzed megasatellites and extended spaced repeats. In: Proceedings of the International Conference “Mathematical Biology and Bioinformatics”. Ed. V.D. Lakhno. Vol. 10. Pushchino: IMPB RAS, 2024. Paper No. e44. doi: 10.17537/icmbb24.56
- Li H., Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754–1760. doi: 10.1093/bioinformatics/btp324
- Burrows M., Wheeler D.J. A Blocksorting Lossless Data Compression Algorithm. Palo Alto, Calif: Digital Equipment Corporation, 1994. (SRC research reports, V. 124).
- Gusfield D. Algorithms on Strings, Trees and Sequences: Computer Science and Computational Biology. Cambridge: Cambridge University Press, 1997. P. 8ff. doi: 10.1017/CBO9780511574931
- Aho A., Corasick M. Efficient string matching: an aid to bibliographic search. Communications of the ACM. 1975;18:333–340. doi: 10.1145/360825.360855
- Knuth D.E. The Art of Computer Programming. Boston: Addison-Wesley, 1997;1:Fundamental Algorithms.
- McCreight E.M. A space-economic suffix tree construction algorithm. Journal of the ACM. 1976;23:262–272. doi: 10.1145/321941.321946
- Ukkonen E. On-line construction of suffix-trees. Algorithmica. 1995;14:249–260. doi: 10.1007/BF01206331
- Weiner P. Linear pattern matching algorithms. Proceedings of the 14th IEE Annual Symposium on Switching and Automata Theory. 1973:1–11. doi: 10.1109/SWAT.1973.13
- Apostolico A. The Myriad Virtues of Subword Trees. In: Combinatorial Algorithms on Words. Eds. Apostolico A., Galil Z. Berlin, Heidelberg: Springer, 1985. P. 85–96. (NATO ASI Series, V. 12). doi: 10.1007/978-3-642-82456-2_6
- Manber U., Myers E.W. Suffix Arrays: A New Method for On-Line String Searches. SIAM J. Comput. 1993;22:935–948. doi: 10.1137/0222058
- Ferragina P., Manzini G. Opportunistic data structures with applications. In: Proceedings of the 41st Symposium on Foundations of Computer Science (FOCS 2000). Redondo Beach, CA, USA: IEEE, 2000. P. 390–398. doi: 10.1109/SFCS.2000.892127
- Marçais G, Kingsford C. A fast, lock-free approach for efficient parallel counting of occurrences of k-mers. Bioinformatics. 2011;27:764–770. doi: 10.1093/bioinformatics/btr011
- Li X., Waterman M.S. Estimating the repeat structure and length of DNA sequences using l-tuples. Genome Research. 2003;13:1916–1922. doi: 10.1101/gr.1251803
- Jenike K.M., Campos-Domínguez L., Boddé M., Cerca J., Hodson C.N., Schatz M.C., Jaron K.S. K-mer approaches for biodiversity genomics. Genome Res. 2025;35:219–230. doi: 10.1101/gr.279452.124
- Roberts M.D., Davis O., Josephs E.B., Williamson R.J. K-mer-based Approaches to Bridging Pangenomics and Population Genetics. Molecular Biology and Evolution. 2025;42. Article No. msaf047. doi: 10.1093/molbev/msaf047
- Campagna D., Romualdi C., Vitulo N., Del Favero M., Lexa M., Cannata N., Valle G. RAP: a new computer program for de novo identification of repeated sequences in whole genomes. Bioinformatics. 2004;21:582–588. doi: 10.1093/bioinformatics/bti03
- Gu W., Castoe T.A., Hedges D.J., Batzer M.A., Pollock D.D. Identification of repeat structure in large genomes using repeat probability clouds. Anal. Biochem. 2008;380:77–83. doi: 10.1016/j.ab.2008.05.01
- Rahman A., Hallgrímsdóttir I., Eisen M., Pachter L. Association mapping from sequencing reads using k-mers. Elife. 2018;7. Article No. e32920. doi: 10.7554/eLife.32920
- Ponsero A.J., Miller M., Hurwitz B.L. Comparison of k-mer-based de novo comparative metagenomic tools and approaches. Microbiome Res. Rep. 2023;2. Article No. 27. doi: 10.20517/mrr.2023.26
- Wu D.Y., Ugozzoli L., Pal B.K., Qian J., Wallace R.B. The effect of temperature and oligonucleotide primer length on the specificity and efficiency of amplification by the polymerase chain reaction. DNA Cell Biol. 1991;10:233–238. doi 10.1089/dna.1991.10.233. doi: 10.1089/dna.1991.10.233
- Becher H., Sampson J., Twyford A.D. Measuring the invisible: the sequences causal of genome size differences in eyebrights (Euphrasia) revealed by k-mers. Front. Plant Sci. 2022;13. Article No. 818410. doi: 10.3389/fpls.2022.818410
- Shajii A., Yorukoglu D., William Yu.Y., Berger B. Fast genotyping of known SNPs through approximate k-mer matching. Bioinformatics. 2016;32:i538–i544. doi: 10.1093/bioinformatics/btw460
- Bussi Y., Kapon R., Reich Z. Large-scale k-mer-based analysis of the informational properties of genomes, comparative genomics and taxonomy. PLoS One. 2021;16. Article No. e0258693. doi: 10.1371/journal.pone.0258693
- Chikhi R., Medvedev P. Informed and automated k-mer size selection for genome assembly. Bioinformatics. 2014;30:31–37. doi: 10.1093/bioinformatics/btt310
|
|
|