Researcher Profile

Researcher Profile

Kateryna Dmytrivna Makova, PhD

Kateryna Dmytrivna Makova, PhD

Francis R. and Helen M. Pentz Professor, Biology
Scientific Program:Cancer Control
Disease Teams:
Institute for CyberScience (ICS) - Associate

Research Interests

  • Genome
  • Genes
  • Mutation
  • Human Genome
  • Microsatellite Repeats
  • DNA
  • Mitochondrial DNA
  • Mutation Rate
  • Population
  • Primates
  • Chromosomes
  • Pan troglodytes

Recent Publications


Arbeithuber, B, Cremona, MA, Hester, J, Barrett, A, Higgins, B, Anthony, K, Chiaromonte, F, Diaz, FJ & Makova, KD 2022, 'Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues', Proceedings of the National Academy of Sciences of the United States of America, vol. 119, no. 15, e2118740119.
Torres-Gonzalez, E & Makova, KD 2022, 'Exploring the Effects of Mitonuclear Interactions on Mitochondrial DNA Gene Expression in Humans', Frontiers in Genetics, vol. 13, 797129.
Savage, JS, Hochgraf, AK, Loken, E, Marini, ME, Craig, SJC, Makova, KD, Birch, LL & Paul, IM 2022, 'INSIGHT responsive parenting educational intervention for firstborns is associated with growth of second-born siblings', Obesity, vol. 30, no. 1, pp. 183-190.


Carney, MC, Zhan, X, Rangnekar, A, Chroneos, MZ, Craig, SJC, Makova, KD, Paul, IM & Hicks, SD 2021, 'Associations between stool micro-transcriptome, gut microbiota, and infant growth', Journal of Developmental Origins of Health and Disease, vol. 12, no. 6, pp. 876-882.
Craig, SJC, Kenney, AM, Lin, J, Paul, IM, Birch, LL, Savage, JS, Marini, ME, Chiaromonte, F, Reimherr, ML & Makova, KD 2021, 'Constructing a polygenic risk score for childhood obesity using functional data analysis', Econometrics and Statistics.
Nandy, D, Craig, SJC, Cai, J, Tian, Y, Paul, IM, Savage, JS, Marini, ME, Hohman, EE, Reimherr, ML, Patterson, AD, Makova, KD & Chiaromonte, F 2022, 'Metabolomic profiling of stool of two-year old children from the INSIGHT study reveals links between butyrate and child weight outcomes', Pediatric Obesity, vol. 17, no. 1, e12833.
Guiblet, WM, Cremona, MA, Harris, RS, Chen, D, Eckert, KA, Chiaromonte, F, Huang, YF & Makova, KD 2021, 'Non-B DNA: A major contributor to small-and large-scale variation in nucleotide substitution frequencies across the genome', Nucleic acids research, vol. 49, no. 3, pp. 1497-1516.
Guiblet, WM, DeGiorgio, M, Cheng, X, Chiaromonte, F, Eckert, KA, Huang, YF & Makova, KD 2021, 'Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome', Genome research, vol. 31, no. 7, pp. 1136-1149.
Rhie, A, McCarthy, SA, Fedrigo, O, Damas, J, Formenti, G, Koren, S, Uliano-Silva, M, Chow, W, Fungtammasan, A, Kim, J, Lee, C, Ko, BJ, Chaisson, M, Gedman, GL, Cantin, LJ, Thibaud-Nissen, F, Haggerty, L, Bista, I, Smith, M, Haase, B, Mountcastle, J, Winkler, S, Paez, S, Howard, J, Vernes, SC, Lama, TM, Grutzner, F, Warren, WC, Balakrishnan, CN, Burt, D, George, JM, Biegler, MT, Iorns, D, Digby, A, Eason, D, Robertson, B, Edwards, T, Wilkinson, M, Turner, G, Meyer, A, Kautt, AF, Franchini, P, Detrich, HW, Svardal, H, Wagner, M, Naylor, GJP, Pippel, M, Malinsky, M, Mooney, M, Simbirsky, M, Hannigan, BT, Pesout, T, Houck, M, Misuraca, A, Kingan, SB, Hall, R, Kronenberg, Z, Sović, I, Dunn, C, Ning, Z, Hastie, A, Lee, J, Selvaraj, S, Green, RE, Putnam, NH, Gut, I, Ghurye, J, Garrison, E, Sims, Y, Collins, J, Pelan, S, Torrance, J, Tracey, A, Wood, J, Dagnew, RE, Guan, D, London, SE, Clayton, DF, Mello, CV, Friedrich, SR, Lovell, PV, Osipova, E, Al-Ajli, FO, Secomandi, S, Kim, H, Theofanopoulou, C, Hiller, M, Zhou, Y, Harris, RS, Makova, KD, Medvedev, P, Hoffman, J, Masterson, P, Clark, K, Martin, F, Howe, K, Flicek, P, Walenz, BP, Kwak, W, Clawson, H, Diekhans, M, Nassar, L, Paten, B, Kraus, RHS, Crawford, AJ, Gilbert, MTP, Zhang, G, Venkatesh, B, Murphy, RW, Koepfli, KP, Shapiro, B, Johnson, WE, Di Palma, F, Marques-Bonet, T, Teeling, EC, Warnow, T, Graves, JM, Ryder, OA, Haussler, D, O’Brien, SJ, Korlach, J, Lewin, HA, Howe, K, Myers, EW, Durbin, R, Phillippy, AM & Jarvis, ED 2021, 'Towards complete and error-free genome assemblies of all vertebrate species', Nature, vol. 592, no. 7856, pp. 737-746.


Arbeithuber, B, Hester, J, Cremona, MA, Stoler, N, Zaidi, A, Higgins, B, Anthony, K, Chiaromonte, F, Diaz, FJ & Makova, KD 2020, 'Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues', PLoS biology, vol. 18, no. 7, 3000745.
Vegesna, R, Tomaszkiewicz, M, Ryder, OA, Campos-Sanchez, R, Medvedev, P, DeGiorgio, M & Makova, KD 2020, 'Ampliconic genes on the great ape y chromosomes: Rapid evolution of copy number but conservation of expression levels', Genome biology and evolution, vol. 12, no. 6, pp. 842-859.
Cechova, M, Vegesna, R, Tomaszkiewicz, M, Harris, RS, Chen, D, Rangavittal, S, Medvedev, P & Makova, KD 2020, 'Dynamic evolution of great ape Y chromosomes', Proceedings of the National Academy of Sciences of the United States of America, vol. 117, no. 42, pp. 26273-26280.
Stoler, N, Arbeithuber, B, Povysil, G, Heinzl, M, Salazar, R, Makova, KD, Tiemann-Boege, I & Nekrutenko, A 2020, 'Family reunion via error correction: An efficient analysis of duplex sequencing data', BMC bioinformatics, vol. 21, no. 1, 96.
Chen, D, Cremona, MA, Qi, Z, Mitra, RD, Chiaromonte, F & Makova, KD 2020, 'Human L1 transposition dynamics unraveled with functional data analysis', Molecular biology and evolution, vol. 37, no. 12, pp. 3576-3600.
Barrett, A, Arbeithuber, B, Zaidi, A, Wilton, P, Paul, IM, Nielsen, R & Makova, KD 2020, 'Pronounced somatic bottleneck in mitochondrial DNA of human hair', Philosophical Transactions of the Royal Society B: Biological Sciences, vol. 375, no. 1790, 20190175.


Zaidi, AA, Wilton, PR, Su, MSW, Paul, IM, Arbeithuber, B, Anthony, K, Nekrutenko, A, Nielsen, R & Makova, KD 2019, 'Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees', Proceedings of the National Academy of Sciences of the United States of America, vol. 116, no. 50, pp. 25172-25178.
Rangavittal, S, Stopa, N, Tomaszkiewicz, M, Sahlin, K, Makova, KD & Medvedev, P 2019, 'DiscoverY: A classifier for identifying y chromosome sequences in male assemblies', BMC genomics, vol. 20, no. 1, 641.
Vegesna, R, Tomaszkiewicz, M, Medvedev, P & Makova, KD 2019, 'Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes', PLoS genetics, vol. 15, no. 9, e1008369.
Cremona, MA, Xu, H, Makova, KD, Reimherr, M, Chiaromonte, F & Madrigal, P 2019, 'Functional data analysis for computational biology', Bioinformatics, vol. 35, no. 17, pp. 3211-3213.
Cechova, M, Harris, RS, Tomaszkiewicz, M, Arbeithuber, B, Chiaromonte, F & Makova, KD 2019, 'High Satellite Repeat Turnover in Great Apes Studied with Short- And Long-Read Technologies', Molecular biology and evolution, vol. 36, no. 11, pp. 2415-2431.
Zaidi, AA & Makova, KD 2019, 'Investigating mitonuclear interactions in human admixed populations', Nature Ecology and Evolution, vol. 3, no. 2, pp. 213-222.
Harris, RS, Cechova, M & Makova, KD 2019, 'Noise-cancelling repeat finder: Uncovering tandem repeats in error-prone long-read sequencing data', Bioinformatics, vol. 35, no. 22, pp. 4809-4811.


Wilton, PR, Zaidi, A, Makova, K & Nielsen, R 2018, 'A population phylogenetic view of mitochondrial heteroplasmy', Genetics, vol. 208, no. 3, pp. 1261-1274.
Craig, SJC, Blankenberg, D, Parodi, ACL, Paul, IM, Birch, LL, Savage, JS, Marini, ME, Stokes, JL, Nekrutenko, A, Reimherr, M, Chiaromonte, F & Makova, KD 2018, 'Child Weight Gain Trajectories Linked To Oral Microbiota Composition', Scientific reports, vol. 8, no. 1, 14030.
Warris, S, Schijlen, E, Van De Geest, H, Vegesna, R, Hesselink, T, Te Lintel Hekkert, B, Sanchez Perez, G, Medvedev, P, Makova, KD & De Ridder, D 2018, 'Correcting palindromes in long reads after whole-genome amplification', BMC genomics, vol. 19, no. 1, 798.
Sahlin, K, Tomaszkiewicz, M, Makova, KD & Medvedev, P 2018, 'Deciphering highly similar multigene family transcripts from Iso-Seq data with IsoCon', Nature communications, vol. 9, no. 1, 4601.
Holland, MM, Makova, KD & McElhoe, JA 2018, 'Deep-coverage MPS analysis of heteroplasmic variants within the mtgenome allows for frequent differentiation of maternal relatives', Genes, vol. 9, no. 3, 124.
Ye, D, Zaidi, AA, Tomaszkiewicz, M, Anthony, K, Liebowitz, C, DeGiorgio, M, Shriver, MD & Makova, KD 2018, 'High levels of copy number variation of ampliconic genes across major human Y haplogroups', Genome biology and evolution, vol. 10, no. 5, pp. 1333-1350.
Cremona, MA, Pini, A, Cumbo, F, Makova, KD, Chiaromonte, F & Vantini, S 2018, 'IWTomics: Testing high-resolution sequence-based 'Omics' data at multiple locations and scales', Bioinformatics, vol. 34, no. 13, pp. 2289-2291.
Guiblet, WM, Cremona, MA, Cechova, M, Harris, RS, Kejnovská, I, Kejnovsky, E, Eckert, K, Chiaromonte, F & Makova, KD 2018, 'Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate', Genome research, vol. 28, no. 12, pp. 1767-1778.
Rangavittal, S, Harris, RS, Cechova, M, Tomaszkiewicz, M, Chikhi, R, Makova, KD & Medvedev, P 2018, 'RecoverY: K-mer-based read classification for Y-chromosome-specific sequencing and assembly', Bioinformatics, vol. 34, no. 7, pp. 1125-1131.

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