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

Recent Publications


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.
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.
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 & Birol, I 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, M, 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.


Baker, RJ, Dickins, B, Wickliffe, JK, Khan, FAA, Gaschak, S, Makova, KD & Phillips, CD 2017, 'Elevated mitochondrial genome variation after 50 generations of radiation exposure in a wild rodent', Evolutionary Applications, vol. 10, no. 8, pp. 784-791.
Tomaszkiewicz, M, Medvedev, P & Makova, KD 2017, 'Y and W Chromosome Assemblies: Approaches and Discoveries', Trends in Genetics, vol. 33, no. 4, pp. 266-282.


Tomaszkiewicz, M, Rangavittal, S, Cechova, M, Sanchez, RC, Fescemyer, HW, Harris, R, Ye, D, O'Brien, PCM, Chikhi, R, Ryder, OA, Ferguson-Smith, MA, Medvedev, P & Makova, KD 2016, 'A time- and cost-effective strategy to sequence mammalian Y chromosomes: An application to the de novo assembly of gorilla Y', Genome research, vol. 26, no. 4, pp. 530-540.
Arbeithuber, B, Makova, KD & Tiemann-Boege, I 2016, 'Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications', DNA research : an international journal for rapid publication of reports on genes and genomes, vol. 23, no. 6, pp. 547-559.
Campos-Sánchez, R, Cremona, MA, Pini, A, Chiaromonte, F & Makova, KD 2016, 'Integration and Fixation Preferences of Human and Mouse Endogenous Retroviruses Uncovered with Functional Data Analysis', PLoS computational biology, vol. 12, no. 6, e1004956.
Fungtammasan, A, Tomaszkiewicz, M, Campos-Sánchez, R, Eckert, KA, Degiorgio, M & Makova, KD 2016, 'Reverse Transcription Errors and RNA-DNA Differences at Short Tandem Repeats', Molecular biology and evolution, vol. 33, no. 10, pp. 2744-2758.
Stoler, N, Arbeithuber, B, Guiblet, W, Makova, KD & Nekrutenko, A 2016, 'Streamlined analysis of duplex sequencing data with Du Novo', Genome biology, vol. 17, no. 1, 180.

Clinical Trials Search

Children (age < 18 years)
Adults (age >= 18 years)