Kateryna Makova

Director of the Center for Medical Genomics; Professor of Biology

Kateryna Makova

Research Summary

Molecular evolution, population genetics, evolutionary genomics, bioinformatics, and human genetics.

Graduate Students

Huck Affiliations


Publication Tags

Genome Mutation Mitochondrial Dna Genes Human Genome Gene Expression Bioinformatics Microsatellite Repeats Population High Throughput Nucleotide Sequencing Dosage Computational Biology Genetic Variation Rate Tandem Repeat Sequences Y Chromosome Mitochondrial Genome Human Population Dna Population Genetics Chromosome Galaxies Sequencing Chromosomes Radiation Exposure

Most Recent Papers

Pronounced somatic bottleneck in mitochondrial DNA of human hair

Alison Barrett, Barbara Arbeithuber, Arslan Zaidi, Peter Wilton, Ian M. Paul, Rasmus Nielsen, Kateryna D. Makova, 2020, Philosophical transactions of the Royal Society of London. Series B, Biological sciences

Noise-cancelling repeat finder

Robert S. Harris, Monika Cechova, Kateryna D. Makova, Inanc Birol, 2019, Bioinformatics on p. 4809-4811

Functional data analysis for computational biology

Marzia Cremona, Hongyan Xu, Kateryna Dmytrivna Makova, Matthew Logan Reimherr, Francesca Chiaromonte, Pedro Madrigal, 2019, Bioinformatics on p. 3211-3213


Samarth Rangavittal, Natasha Stopa, Marta Tomaszkiewicz, Kristoffer Sahlin, Kateryna D. Makova, Paul Medvedev, 2019, BMC genomics

Investigating mitonuclear interactions in human admixed populations

Arslan A. Zaidi, Kateryna D. Makova, 2019, Nature Ecology and Evolution on p. 213-222

Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes

Rahulsimham Vegesna, Marta Tomaszkiewicz, Paul Medvedev, Kateryna D. Makova, 2019, PLoS genetics


Marzia Cremona, Alessia Pini, Fabio Cumbo, Kateryna Dmytrivna Makova, Francesca Chiaromonte, Simone Vantini, 2018, Bioinformatics on p. 2289-2291


Samarth Rangavittal, Robert S. Harris, Monika Cechova, Marta Tomaszkiewicz, Rayan Chikhi, Kateryna D. Makova, Paul Medvedev, 2018, Bioinformatics on p. 1125-1131

A population phylogenetic view of mitochondrial heteroplasmy

Peter R. Wilton, Arslan Zaidi, Kateryna Makova, Rasmus Nielsen, 2018, Genetics on p. 1261-1274

Elevated mitochondrial genome variation after 50 generations of radiation exposure in a wild rodent

Robert J. Baker, Benjamin Dickins, Jeffrey K. Wickliffe, Faisal A.A. Khan, Sergey Gaschak, Kateryna D. Makova, Caleb D. Phillips, 2017, Evolutionary Applications on p. 784-791

Most-Cited Papers

Complete Khoisan and Bantu genomes from southern Africa

Stephan C. Schuster, Webb Miller, Aakrosh Ratan, Lynn P. Tomsho, Belinda Giardine, Lindsay R. Kasson, Robert S. Harris, Desiree C. Petersen, Fangqing Zhao, Ji Qi, Can Alkan, Jeffrey M. Kidd, Yazhou Sun, Daniela I. Drautz, Pascal Bouffard, Donna M. Muzny, Jeffrey G. Reid, Lynne V. Nazareth, Qingyu Wang, Richard Burhans, Cathy Riemer, Nicola E. Wittekindt, Priya Moorjani, Elizabeth A. Tindall, Charles G. Danko, Wee Siang Teo, Anne M. Buboltz, Zhenhai Zhang, Qianyi Ma, Arno Oosthuysen, Abraham W. Steenkamp, Hermann Oostuisen, Philippus Venter, John Gajewski, Yu Zhang, B. Franklin Pugh, Kateryna D. Makova, Anton Nekrutenko, Elaine R. Mardis, Nick Patterson, Tom H. Pringle, Francesca Chiaromonte, James C. Mullikin, Evan E. Eichler, Ross C. Hardison, Richard A. Gibbs, Timothy T. Harkins, Vanessa M. Hayes, 2010, Nature on p. 943-947

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

Stephen B. Montgomery, David L. Goode, Erika Kvikstad, Cornelis A. Albers, Zhengdong D. Zhang, Xinmeng Jasmine Mu, Guruprasad Ananda, Bryan Howie, Konrad J. Karczewski, Kevin S. Smith, Vanessa Anaya, Rhea Richardson, Joe Davis, Daniel G. MacArthur, Arend Sidow, Laurent Duret, Mark Gerstein, Kateryna D. Makova, Jonathan Marchini, Gil McVean, Gerton Lunter, 2013, Genome research on p. 749-761

A genome-wide analysis of common fragile sites

Arkarachai Fungtammasan, Erin Walsh, Francesca Chiaromonte, Kristin A. Eckert, Kateryna D. Makova, 2012, Genome research on p. 993-1005

What is a microsatellite

Yogeshwar D. Kelkar, Noelle Strubczewski, Suzanne E. Hile, Francesca Chiaromonte, Kristin A. Eckert, Kateryna D. Makova, 2010, Genome biology and evolution on p. 620-635

Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq

Jennifer A. McElhoe, Mitchell M. Holland, Kateryna D. Makova, Marcia Shu Wei Su, Ian M. Paul, Christine H. Baker, Seth A. Faith, Brian Young, 2014, Forensic Science International: Genetics on p. 20-29

Do variations in substitution rates and male mutation bias correlate with life-history traits? a study of 32 mammalian genomes

Melissa A.Wilson Sayres, Chris Venditti, Mark Pagel, Kateryna Dmytrivna Makova, 2011, Evolution on p. 2800-2815

The Intervention Nurses Start Infants Growing on Healthy Trajectories (INSIGHT) study

Ian M. Paul, Jennifer S. Williams, Stephanie Anzman-Frasca, Jessica S. Beiler, Kateryna D. Makova, Michele E. Marini, Lindsey B. Hess, Susan E. Rzucidlo, Nicole Verdiglione, Jodi A. Mindell, Leann L. Birch, 2014, BMC pediatrics

A massively parallel sequencing approach uncovers ancient origins and high genetic variability of endangered Przewalski's horses

Hiroki Goto, Oliver A. Ryder, Allison R. Fisher, Bryant Schultz, Sergei L.Kosakovsky Pond, Anton Nekrutenko, Kateryna D. Makova, 2011, Genome biology and evolution on p. 1096-1106

A matter of life or death

Yogeshwar D. Kelkar, Kristin A. Eckert, Francesca Chiaromonte, Kateryna D. Makova, 2011, Genome research on p. 2038-2048

Genome analyses substantiate male mutation bias in many species

Melissa A. Wilson Sayres, Kateryna Dmytrivna Makova, 2011, BioEssays on p. 938-945

News Articles Featuring Kateryna Makova

Tracking inheritance of human mitochondrial DNA

New insight into how genetic information stored in human mitochondria is passed from one generation to the next could have important implications for genetic counseling of people planning pregnancies, according to a study by researchers at Penn State and the University of California, Berkeley.

Mixed Ancestry Might Affect Our Mitochondria

Could the bacteria in a child’s mouth predict obesity?

There may soon be a simple way to identify children at risk for developing obesity later in life. Researchers from Penn State University analyzed the bacteria in the mouths of 226 2-year-olds and found that a child's oral microbiota can be used as a tool to predict weight gain during the first two years of their life.

Mouth bacteria in toddlers may predict obesity, study says

Bacteria in a toddler's mouth might help predict later obesity, new research suggests. Scientists at Penn State University found the composition of microorganisms in the mouths of 2-year-olds offers clues to the child's future weight.

Swabbing a child’s mouth for bacteria could predict how likely they are to become obese

A swab of a toddler’s mouth may predict their odds of growing into obese children, a new study suggests. Scientists at Pennsylvania State University discovered that the harmless microorganisms living in a two-year-old’s mouth were less diverse if they had gained more weight more quickly than most since birth.