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Kateryna Makova, Ph.D.

Professor

Professor, Department of Biology

Director, Center for Medical Genomics

Interests

  • Genomics, evolution, and human genetics
  • Sex chromosome evolution
  • Genomics of childhood obesity

Education

  • Ph.D. in Biology,

    Texas Tech University

  • M.S. in Biochemistry and Molecular Biology,

    Kiev State University Kiev, Ukraine

Biography

Kateryna is interested in genomics, evolution, and human genetics. Her lab studies mutations using both computational and experimental approaches. Additional topics of interest include sex chromosome evolution and genomics of childhood obesity.

Publications

E Torres-González, MA Cremona, JM Storer, M Ventura, RJ O’Neill, KD Makova. Nuclear Mitochondrial Sequences in Great Ape Telomere-to-Telomere Genomes. BIORXIV, 2025.

Mitochondrial Paper Link

L Smeds, K Kamali, I Kejnovská, E Kejnovský, F Chiaromonte, KD Makova. Non-canonical DNA in human and other ape telomere-to-telomere genomes. NUCLEIC ACIDS RES, 2025.

Non-B DNA & Microsatellite Paper Link

S Hile, M Weissensteiner, K Pytko, J Dahl, E Kejnovsky, I Kejnovská, M Hedglin, I Georgakopoulos-Soares, KD Makova, K Eckert. Replicative DNA polymerase Epsilon and Delta holoenzymes show wide ranging inhibition at G-Quadruplexes in the human genome. NUCLEIC ACIDS RES, 2025.

Non-B DNA & Microsatellite Paper Link

B Arbeithuber, K Anthony, B Higgins, P Oppelt, O Shebl, I Tiemann-Boege, F Chiaromonte, T Ebner, KD Makova. Mitochondrial DNA mutations in human oocytes undergo frequency-dependent selection but do not increase with age. BIORXIV, 2024.

Mitochondrial Paper Link

SK Mohanty, F Chiaromonte, KD Makova. Evolutionary Dynamics of G-Quadruplexes in Human and Other Great Ape Telomere-to-Telomere Genomes. BIORXIV, 2024.

Non-B DNA & Microsatellite Paper Link

M Cechova, KD Makova. The ape Y chromosome evolves extremely rapidly, but the X chromosome is conserved. NATURE, 2024.

PDF Sex chromosome Video Paper Link

KD Makova, BD Pickett, RS Harris, GA Hartley, M Cechova, K Pal, S Nurk, D Yoo, Q Li, P Hebbar, BC McGrath, F Antonacci, M Aubel, A Biddanda, M Borchers, E Bomberg, GG Bouffard, SY Brooks, L Carbone, L Carrel, A Carroll, PC Chang, CS Chin, DE Cook, SJC Craig, L de Gennaro, M Diekhans, A Dutra, GH Garcia, PGS Grady, RE Green, D Haddad, P Hallast, WT Harvey, G Hickey, DA Hillis, SJ Hoyt, H Jeong, K Kamali, SL Kosakovsky Pond, TM LaPolice, C Lee, AP Lewis, YE Loh, P Masterson, RC McCoy, P Medvedev, KH Miga, KM Munson, E Pak, B Paten, BJ Pinto, T Potapova, A Rhie, JL Rocha, F Ryabov, OA Ryder, S Sacco, K Shafin, VA Shepelev, V Slon, SJ Solar, JM Storer, PH Sudmant, Sweetalana, A Sweeten, MG Tassia, F Thibaud-Nissen, M Ventura, MA Wilson, AC Young, H Zeng, X Zhang, ZA Szpiech, CD Huber, JL Gerton, SV Yi, MC Schatz, IA Alexandrov, S Koren, RJ O’Neill, E Eichler, AM Phillippy. The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes. NATURE, 2024.

Sex chromosome Video Paper Link Press release

D Lariviere, SJC Craig, IM Paul, E Hohman, JS Savage, RO Wright, F Chiaromonte, KD Makova, ML Reimherr. Methylation profiles at birth linked to early childhood obesity. J DEV ORIG HEALTH DIS, 2024.

Childhood Obesity Paper Link

A Greshnova, K Pal, JFI Martinez, S Canzar, KD Makova. Transcript Isoform Diversity of Y Chromosome Ampliconic Genes of Great Apes Uncovered Using Long Reads and Telomere-to-Telomere Reference Genome Assemblies. BIORXIV, 2024.

Sex chromosome Paper Link

A Lahnsteiner, SJC Craig, K Kamali, B Weissensteiner, B McGrath, A Risch, KD Makova. In vivo detection of DNA secondary structures using Permanganate/S1 Footprinting with Direct Adapter Ligation and Sequencing (PDAL-Seq). METHODS IN ENZYMOLOGY, 2024.

Non-B DNA & Microsatellite Paper Link

M Tomaszkiewicz, K Sahlin, P Medvedev, KD Makova. Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes. GENOME BIOL EVOL, 2023.

Sex chromosome Paper Link

A Rhie, S Nurk, M Cechova, SJ Hoyt, DJ Taylor, N Altemose, PW Hook, S Koren, M Rautiainen, IA Alexandrov, J Allen, M Asri, AV Bzikadze, N-C Chen, C-S Chin, M Diekhans, P Flicek, G Formenti, A Fungtammasan, CG Giron, E Garrison, A Gershman, JL Gerton, PGS Grady, A Guarracino, L Haggerty, R Halabian, NF Hansen, R Harris, GA Hartley, WT Harvey, M Haukness, J Heinz, T Hourlier, RM Hubley, SE Hunt, S Hwang, M Jain, RK Kesharwani, AP Lewis, H Li, GA Logsdon, JK Lucas, W Makalowski, C Markovic, FJ Martin, AM McCartney, RC McCoy, J McDaniel, BM McNulty, P Medvedev, A Mikheenko, KM Munson, TD Murphy, HE Olsen, ND Olson, LF Paulin, D Porubsky, T Potapova, F Ryabov, SL Salzberg, MEG Sauria, FJ Sedlazeck, K Shafin, VA Shepelev, A Shumate, JM Storer, L Surapaneni, AM Taravella Oill, F Thibaud-Nissen, W Timp, M Tomaszkiewicz, MR Vollger, BP Walenz, AC Watwood, MH Weissensteiner, AM Wenger, MA Wilson, S Zarate, Y Zhu, JM Zook, EE Eichler, RJ O’Neill, MC Schatz, KH Miga, KD Makova, AM Phillippy. The complete sequence of a human Y chromosome. NATURE, 2023.

Sex chromosome Paper Link

M Weissensteiner, MA Cremona, WM Guiblet, N Stoler, RS Harris, M Cechova, KA Eckert, F Chiaromonte, YF Huang, KD Makova. Accurate sequencing of DNA motifs able to form alternative (non-B) structures. GENOME RES, 2023.

Non-B DNA & Microsatellite Paper Link

SJC Craig, AM Kenney, J Lin, IM Paul, LL Birch, JS Savage, ME Marini, F Chiaromonte, ML Reimherr, KD Makova. Constructing a polygenic risk score for childhood obesity using functional data analysis. ECONOM STAT, 2023.

Childhood Obesity Paper Link

KD Makova, M Weissensteiner. Noncanonical DNA structures are drivers of genome evolution. TRENDS GENET, 2023.

Non-B DNA & Microsatellite Paper Link

M Escalona, J VanCampen, NW Maurer, M Haukness, M Okhovat, RS Harris, A Watwood, GA Hartley, RJ O’Neill, P Medvedev, KD Makova, C Vollmers, L Carbone, RE Green. Whole-genome sequence and assembly of the Javan gibbon (Hylobates moloch). J HERED, 2022.

Sex chromosome Paper Link

ME Stein, A Nusawardhana, M Weissensteiner, M Leed, S Zhang, E Kejnovsky, I Kejnovská, KD Makova, KA Eckert. Variation in G-quadruplex Sequence and Topology Differentially Impacts Human DNA Polymerase Fidelity. DNA REPAIR, 2022.

Non-B DNA & Microsatellite Paper Link

E Torres-González, KD Makova. Exploring the effects of mitonuclear interactions on mitochondrial DNA gene expression in humans. FRONT GENET, 2022.

Mitochondrial Paper Link

B Arbeithuber, MA Cremona, J Hester, A Barrett, B Higgins, K Anthony, F Chiaromonte, FJ Diaz, KD Makova. Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues. P NATL ACAD SCI USA, 2022.

Mitochondrial Paper Link

D Nandy, SJ Craig, J Cai, Y Tian, IM Paul, JS Savage, ME Marini, EE Hohman, ML Reimherr, AD Patterson, KD Makova, F Chiaromonte. Metabolomic profiling of stool of two-year old children from the INSIGHT study reveals links between butyrate and child weight outcomes. PED OBESITY, 2022.

Childhood Obesity Paper Link

JS Savage, AK Hochgraf, E Loken, ME Marini, SJ Craig, KD Makova, LL Birch, IM Paul. INSIGHT responsive parenting educational intervention for firstborns is associated with growth of secondborn siblings. OBESITY, 2022.

Childhood Obesity Paper Link

WM Guiblet, M DeGiorgio, X Cheng, F Chiaromonte, KA Eckert, YF Huang, KD Makova. Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome. GENOME RES, 2021.

Non-B DNA & Microsatellite Paper Link

A Rhie, SA McCarthy, O Fedrigo, J Damas, G Formenti, S Koren, M Uliano-Silva, W Chow, A Fungtammasan, GL Gedman, LJ Cantin, F Thibaud-Nissen, L Haggerty, C Lee, BJ Ko, J Kim, I Bista, M Smith, B Haase, J Mountcastle, S Winkler, S Paez, J Howard, SC Vernes, TM Lama, F Grutzner, WC Warren, C Balakrishnan, D Burt, JM George, M Biegler, D Iorns, A Digby, D Eason, T Edwards, M Wilkinson, G Turner, A Meyer, AF Kautt, P Franchini, HW Detrich III, H Svardal, M Wagner, GJP Naylor, M Pippel, M Malinsky, M Mooney, M Simbirsky, BT Hannigan, T Pesout, M Houck, A Misuraca, SB Kingan, R Hall, Z Kronenberg, J Korlach, I Sović, C Dunn, Z Ning, A Hastie, J Lee, S Selvaraj, RE Green, NH Putnam, J Ghurye, E Garrison, Y Sims, J Collins, S Pelan, J Torrance, A Tracey, J Wood, D Guan, SE London, DF Clayton, CV Mello, SR Friedrich, PV Lovell, E Osipova, FO Al-Ajli, S Secomandi, H Kim, C Theofanopoulou, Y Zhou, RS Harris, KD Makova, P Medvedev, J Hoffman, P Masterson, K Clark, F Martin, K Howe, P Flicek, BP Walenz, W Kwak, H Clawson, M Diekhans, L Nassar, B Paten, RHS Kraus, H Lewin, AJ Crawford, MTP Gilbert, G Zhang, B Venkatesh, RW Murphy, KP Koepfli, B Shapiro, WE Johnson, F Di Palma, T Margues-Bonet, EC Teeling, T Warnow, JM Graves, OA Ryder, D Hausler, SJ O’Brien, K Howe, EW Myers, R Durbin, AM Phillippy, ED Jarvis. Towards complete and error-free genome assemblies of all vertebrate species. NATURE, 2021.

Sex chromosome Paper Link

WM Guiblet, MA Cremona, RS Harris, D Chen, KA Eckert, F Chiaromonte, Y Huang, KD Makova. Non-B DNA: A major contributor to small- and large-scale variation in nucleotide substitution frequencies across the genome. NUCLEIC ACIDS RES, 2021.

Regional variation Non-B DNA & Microsatellite Paper Link

MC Carney, X Zhan, A Rangnekar, MZ Chroneos, SJ Craig, KD Makova, IM Paul, SD Hicks. Associations between stool micro-transcriptome, gut microbiota, and infant growth. J DEV ORIG HLTH DIS, 2021.

Childhood Obesity Paper Link

M Cechova, R Vegesna, M Tomaszkiewicz, RS Harris, D Chen, S Rangavittal, P Medvedev, KD Makova. Dynamic evolution of great ape Y chromosomes. P NATL ACAD SCI USA, 2020.

Sex chromosome Paper Link

D Chen, MA Cremona, Z Qi, RD Mitra, F Chiaromonte, KD Makova. Human L1 Transposition Dynamics Unraveled with Functional Data Analysis. MOL BIOL EVOL, 2020.

Regional variation Paper Link

B Arbeithuber, J Hester, MA Cremona, N Stoler, A Zaidi, B Higgins, K Anthony, F Chiaromonte, FJ Diaz, KD Makova. Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues. PLOS BIOL, 2020.

Mitochondrial Paper Link

R Vegesna, M Tomaszkiewicz, OA Ryder, R Campos-Sánchez, P Medvedev, M DeGiorgio, KD Makova. Ampliconic genes on the great ape Y chromosomes: Rapid evolution of copy number but conservation of expression levels. GENOME BIOL EVOL, 2020.

PDF Sex chromosome Paper Link

N Stoler, B Arbeithuber, G Povysil, M Heinzl, R Salazar, KD Makova, I Tiemann-Boege, A Nekrutenko. Family reunion via error correction: an efficient analysis of duplex sequencing data. BMC BIOINFORMATICS, 2020.

Code Mitochondrial Non-B DNA & Microsatellite Paper Link

A Barrett, B Arbeithuber, A Zaidi, P Wilton, IM Paul, R Nielsen, KD Makova. Pronounced somatic bottleneck in mitochondrial DNA of human hair. PHILOS T R SOC B, 2019.

Code Mitochondrial Paper Link

A Zaidi, P Wilton, MS-W Su, IM Paul, B Arbeithuber, K Anthony, A Nekrutenko, R Nielsen, KD Makova. Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees. P NATL ACAD SCI USA, 2019.

Mitochondrial Paper Link

R Vegesna, M Tomaszkiewicz, P Medvedev, KD Makova. Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes. PLOS GENET, 2019.

Sex chromosome Paper Link

S Rangavittal, N Stopa, M Tomaszkiewicz, K Sahlin, KD Makova, P Medvedev. DiscoverY: a classifier for identifying Y chromosome sequences in male assemblies. BMC GENOMICS, 2019.

Sex chromosome Paper Link

RS Harris, M Cechova, KD Makova. Noise-Cancelling Repeat Finder: Uncovering tandem repeats in error-prone long-read sequencing data. BIOINFORMATICS, 2019.

Code Sex chromosome Paper Link

M Cechova, RS Harris, M Tomaszkiewicz, B Arbeithuber, F Chiaromonte, KD Makova. High Satellite Repeat Turnover in Great Apes Studied with Short- and Long-read Technologies. MOL BIOL EVOL, 2019.

Sex chromosome Paper Link

SJC Craig, AM Kenney, J Lin, IM Paul, LL Birch, JS Savage, ME Marini, F Chiaromonte, M Reimherr, KD Makova. Polygenic risk score based on weight gain trajectories is a strong predictor of childhood obesity. BIORXIV, 2019.

Childhood Obesity Paper Link

MA Cremona, H Xu, KD Makova, M Reimherr, F Chiaromonte, P Madrigal. Functional data analysis for computational biology. BIOINFORMATICS, 2019.

Paper Link

AA Zaidi, KD Makova. Investigating mitonuclear interactions in human admixed populations. NAT ECOL EVOL, 2019.

Mitochondrial Paper Link Press Release

WM Guiblet, MA Cremona, M Cechova, RS Harris, I Kejnovská, E Kejnovsky, KA Eckert, F Chiaromonte, KD Makova. Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate. GENOME RES, 2018.

Regional variation Non-B DNA & Microsatellite Paper Link Press Release

K Sahlin, M Tomaszkiewicz, KD Makova, P Medvedev. Deciphering highly similar multigene family transcripts from Iso-Seq data with IsoCon. NAT COMMUN, 2018.

Sex chromosome Paper Link

S Warris, E Schijlen, H van de Geest, R Vegesna, T Hesselink, B te Lintel Hekkert, G Sanchez Perez, P Medvedev, KD Makova, D de Ridder. Correcting palindromes in long reads after whole-genome amplification. BMC GENOMICS, 2018.

Sex chromosome Paper Link

SJC Craig, D Blankenberg, ACL Parodi, IM Paul, LL Birch, JS Savage, ME Marini, JL Stokes, A Nekrutenko, M Reimherr, F Chiaromonte, KD Makova. Child Weight Gain Trajectories Linked To Oral Microbiota Composition. SCI REP-UK, 2018.

Childhood Obesity Paper Link Press Release

MA Cremona, A Pini, F Cumbo, KD Makova, F Chiaromonte, S Vantini. IWTomics: testing high-resolution sequence-based `Omics' data at multiple locations and scales. BIOINFORMATICS, 2018.

Non-B DNA & Microsatellite Regional variation Paper Link

D Ye, AA Zaidi, M Tomaszkiewicz, K Anthony, C Liebowitz, M DeGiorgio, MD Shriver, KD Makova. High Levels of Copy Number Variation of Ampliconic Genes across Major Human Y Haplogroups. GENOME BIOL EVOL, 2018.

Sex chromosome Paper Link

S Rangavittal, RS Harris, M Cechova, M Tomaszkiewicz, R Chikhi, KD Makova, P Medvedev. RecoverY: k-mer-based read classification for Y-chromosome-specific sequencing and assembly. BIOINFORMATICS, 2018.

Sex chromosome Paper Link

PR Wilton, AA Zaidi, KD Makova, R Nielsen. A Population Phylogenetic View of Mitochondrial Heteroplasmy. GENETICS, 2018.

Mitochondrial Paper Link

MM Holland, KD Makova, JA McElhoe. Deep-Coverage MPS Analysis of Heteroplasmic Variants within the mtGenome Allows for Frequent Differentiation of Maternal Relatives. GENES-BASEL, 2018.

Mitochondrial Paper Link

RJ Baker, B Dickins, JK Wickliffe, FAA Khan, S Gaschak, KD Makova, CD Phillips. Elevated mitochondrial genome variation after 50 generations of radiation exposure in a wild rodent. EVOL APPL, 2017.

Mitochondrial Paper Link

M Tomaszkiewicz, P Medvedev, KD Makova. Y and W Chromosome Assemblies: Approaches and Discoveries. TRENDS GENET, 2017.

Sex chromosome Paper Link

B Arbeithuber, KD Makova, I Tiemann-Boege. Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications. DNA RES, 2016.

Mitochondrial Paper Link

A Fungtammasan, M Tomaszkiewicz, R Campos-Sánchez, KA Eckert, M DeGiorgio, KD Makova. Reverse Transcription Errors and RNA–DNA Differences at Short Tandem Repeats. MOL BIOL EVOL, 2016.

Non-B DNA & Microsatellite Paper Link

N Stoler, B Arbeithuber, WM Guiblet, KD Makova, A Nekrutenko. Streamlined analysis of duplex sequencing data with Du Novo. GENOME BIOL, 2016.

Mitochondrial Paper Link

R Campos-Sánchez, MA Cremona, A Pini, F Chiaromonte, KD Makova. Integration and Fixation Preferences of Human and Mouse Endogenous Retroviruses Uncovered with Functional Data Analysis. PLOS COMPUT BIOL, 2016.

Regional variation Paper Link

M Tomaszkiewicz, S Rangavittal, M Cechova, R Campos-Sánchez, HW Fescemyer, RS Harris, D Ye, PCM O’Brien, R Chikhi, OA Ryder, MA Ferguson-Smith, P Medvedev, KD Makova. A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y. GENOME RES, 2016.

Sex chromosome Paper Link

KD Makova, RC Hardison. The effects of chromatin organization on variation in mutation rates in the genome. NAT REV GENET, 2015.

Regional variation Paper Link

F Chiaromonte, KD Makova. Using Statistics to Shed Light on the Dynamics of the Human Genome: A Review. CONTRIB STAT, 2015.

Regional variation Paper Link

A Fungtammasan, G Ananda, SE Hile, MS-W Su, C Sun, RS Harris, P Medvedev, KA Eckert, KD Makova. Accurate typing of short tandem repeats from genome-wide sequencing data and its applications. GENOME RES, 2015.

Non-B DNA & Microsatellite Paper Link

JA McElhoe, MM Holland, KD Makova, MS-W Su, IM Paul, CH Baker, SA Faith, B Young. Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq. FORENSIC SCI INT-GEN, 2014.

Mitochondrial Paper Link

B Rebolledo-Jaramillo, MS-W Su, N Stoler, JA McElhoe, B Dickins, D Blankenberg, TS Korneliussen, F Chiaromonte, R Nielsen, MM Holland, IM Paul, A Nekrutenko, KD Makova. Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA. P NATL ACAD SCI USA, 2014.

Mitochondrial Paper Link

IM Paul, JS Williams, S Anzman-Frasca, JS Beiler, KD Makova, ME Marini, LB Hess, SE Rzucidlo, N Verdiglione, JA Mindell, LL Birch. The Intervention Nurses Start Infants Growing on Healthy Trajectories (INSIGHT) study. BMC PEDIATR, 2014.

Childhood Obesity Paper Link

G Ananda, SE Hile, A Breski, Y Wang, YD Kelkar, KD Makova, KA Eckert. Microsatellite Interruptions Stabilize Primate Genomes and Exist as Population-Specific Single Nucleotide Polymorphisms within Individual Human Genomes. PLOS GENET, 2014.

Non-B DNA & Microsatellite Paper Link

R Campos-Sánchez, A Kapusta, C Feschotte, F Chiaromonte, KD Makova. Genomic Landscape of Human, Bat, and Ex Vivo DNA Transposon Integrations. MOL BIOL EVOL, 2014.

Regional variation Paper Link

B Dickins, B Rebolledo-Jaramillo, MS-W Su, IM Paul, D Blankenberg, N Stoler, KD Makova, A Nekrutenko. Controlling for contamination in re-sequencing studies with a reproducible web-based phylogenetic approach. BIOTECHNIQUES, 2014.

Mitochondrial Paper Link

EM Kvikstad, KD Makova. Rapid Evolution of Genes on the Human X Chromosome. eLS, 2013.

Sex chromosome Paper Link

P Kuruppumullage Don, G Ananda, F Chiaromonte, KD Makova. Segmenting the human genome based on states of neutral genetic divergence. P NATL ACAD SCI USA, 2013.

Regional variation Paper Link

MA Wilson Sayres, KD Makova. Gene Survival and Death on the Human Y Chromosome. MOL BIOL EVOL, 2013.

Sex chromosome Paper Link

BA Baptiste, G Ananda, N Strubczewski, A Lutzkanin, SJ Khoo, A Srikanth, N Kim, KD Makova, MM Krasilnikova, KA Eckert. Mature Microsatellites: Mechanisms Underlying Dinucleotide Microsatellite Mutational Biases in Human Cells. G3-GENES GENOM GENET, 2013.

Non-B DNA & Microsatellite Paper Link

CC Steiner, KD Makova, OA Ryder. Mitochondrial Genome: Clues about the Evolution of Extant Equids and Genomic Diversity of Horse Breeds. EQUINE GENOMICS, 2013.

Mitochondrial Paper Link

SB Montgomery, DL Goode, EM Kvikstad, CA Albers, ZD Zhang, XJ Mu, G Ananda, B Howie, KJ Karczewski, KS Smith, V Anaya, R Richardson, J Davis, The 1000 Genomes Project Consortium, DG MacArthur, A Sidow, L Duret, M Gerstein, KD Makova, J Marchini, G McVean, G Lunter. The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes. GENOME RES, 2013.

Non-B DNA & Microsatellite Paper Link

G Ananda, E Walsh, KD Jacob, MM Krasilnikova, KA Eckert, F Chiaromonte, KD Makova. Distinct Mutational Behaviors Differentiate Short Tandem Repeats from Microsatellites in the Human Genome. GENOME BIOL EVOL, 2013.

Non-B DNA & Microsatellite Paper Link

BJ Wagstaff, DJ Hedges, RS Derbes, R Campos-Sánchez, F Chiaromonte, KD Makova, AM Roy-Engel. Rescuing Alu: Recovery of New Inserts Shows LINE-1 Preserves Alu Activity through A-Tail Expansion. PLOS GENET, 2012.

Regional variation Paper Link

K Wolfe, ML Wayne, KD Makova, TY Steen, M Uyenoyama, N Takahata. SMBE Proposal to the Government of Japan. MOL BIOL EVOL, 2012.

Paper Link

A Fungtammasan, E Walsh, F Chiaromonte, KA Eckert, KD Makova. A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?. GENOME RES, 2012.

Non-B DNA & Microsatellite Regional variation Paper Link

MA Wilson Sayres, KD Makova. Genome analyses substantiate male mutation bias in many species. BIOESSAYS, 2011.

Sex chromosome Paper Link

E Afgan, D Baker, N Coraor, H Goto, IM Paul, KD Makova, A Nekrutenko, J Taylor. Harnessing cloud computing with Galaxy Cloud. NAT BIOTECHNOL, 2011.

Mitochondrial Paper Link

MA Wilson Sayres, C Venditti, M Pagel, KD Makova. DO VARIATIONS IN SUBSTITUTION RATES AND MALE MUTATION BIAS CORRELATE WITH LIFE-HISTORY TRAITS? A STUDY OF 32 MAMMALIAN GENOMES. EVOLUTION, 2011.

Regional variation Sex chromosome Paper Link

H Goto, B Dickins, E Afgan, IM Paul, J Taylor, KD Makova, A Nekrutenko. Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study. GENOME BIOL, 2011.

Mitochondrial Paper Link

Z Lombard, C Park, KD Makova, M Ramsay. A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis. BIOL DIRECT, 2011.

Sex chromosome Paper Link

G Ananda, F Chiaromonte, KD Makova. A genome-wide view of mutation rate co-variation using multivariate analyses. GENOME BIOL, 2011.

Regional variation Paper Link

YD Kelkar, KA Eckert, F Chiaromonte, KD Makova. A matter of life or death: How microsatellites emerge in and vanish from the human genome. GENOME RES, 2011.

Non-B DNA & Microsatellite Paper Link

H Goto, OA Ryder, AR Fisher, B Schultz, SL Kosakovsky Pond, A Nekrutenko, KD Makova. A Massively Parallel Sequencing Approach Uncovers Ancient Origins and High Genetic Variability of Endangered Przewalski's Horses. GENOME BIOL EVOL, 2011.

Mitochondrial Paper Link

C Park, L Carrel, KD Makova. Strong Purifying Selection at Genes Escaping X Chromosome Inactivation. MOL BIOL EVOL, 2010.

Sex chromosome Paper Link

SC Schuster, W Miller, A Ratan, LP Tomsho, B Giardine, LR Kasson, RS Harris, DC Petersen, F Zhao, J Qi, C Alkan, JM Kidd, Y Sun, DI Drautz, P Bouffard, DM Muzny, JG Reid, LV Nazareth, Q Wang, RC Burhans, C Riemer, NE Wittekindt, P Moorjani, EA Tindall, CG Danko, WS Teo, AM Buboltz, Z Zhang, Q Ma, A Oosthuysen, AW Steenkamp, H Oostuisen, P Venter, J Gajewski, Y Zhang, BF Pugh, KD Makova, A Nekrutenko, ER Mardis, N Patterson, TH Pringle, F Chiaromonte, JC Mullikin, EE Eichler, RC Hardison, RA Gibbs, TT Harkins, VM Hayes. Complete Khoisan and Bantu genomes from southern Africa. NATURE, 2010.

Paper Link

YD Kelkar, N Strubczewski, SE Hile, F Chiaromonte, KA Eckert, KD Makova. What Is a Microsatellite: A Computational and Experimental Definition Based upon Repeat Mutational Behavior at A/T and GT/AC Repeats. GENOME BIOL EVOL, 2010.

Non-B DNA & Microsatellite Paper Link

EM Kvikstad, KD Makova. The (r)evolution of SINE versus LINE distributions in primate genomes: Sex chromosomes are important. GENOME RES, 2010.

Regional variation Paper Link

MA Wilson, KD Makova. Genomic Analyses of Sex Chromosome Evolution. ANNU REV GENOM HUM G, 2009.

Sex chromosome Paper Link

MA Wilson, KD Makova. Evolution and Survival on Eutherian Sex Chromosomes. PLOS GENET, 2009.

Sex chromosome Paper Link

H Goto, L Peng, KD Makova. Evolution of X-Degenerate Y Chromosome Genes in Greater Apes: Conservation of Gene Content in Human and Gorilla, But Not Chimpanzee. J MOL EVOL, 2009.

Sex chromosome Paper Link

C Park, KD Makova. Coding region structural heterogeneity and turnover of transcription start sites contribute to divergence in expression between duplicate genes. GENOME BIOL, 2009.

Regional variation Paper Link

EM Kvikstad, F Chiaromonte, KD Makova. Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions. GENOME RES, 2009.

Regional variation Paper Link

AN Lau, L Peng, H Goto, L Chemnick, OA Ryder, KD Makova. Horse Domestication and Conservation Genetics of Przewalski's Horse Inferred from Sex Chromosomal and Autosomal Sequences. MOL BIOL EVOL, 2009.

Sex chromosome Paper Link

W-H Li, KD Makova. Molecular Clocks. ELS, 2008.

Regional variation Paper Link

S Tyekucheva, KD Makova, JE Karro, RC Hardison, W Miller, F Chiaromonte. Human-macaque comparisons illuminate variation in neutral substitution rates. GENOME BIOL, 2008.

Regional variation Paper Link

YD Kelkar, S Tyekucheva, F Chiaromonte, KD Makova. The genome-wide determinants of human and chimpanzee microsatellite evolution. GENOME RES, 2008.

Non-B DNA & Microsatellite Paper Link

EM Kvikstad, S Tyekucheva, F Chiaromonte, KD Makova. A Macaque's-Eye View of Human Insertions and Deletions: Differences in Mechanisms. PLOS COMPUT BIOL, 2007.

Regional variation Paper Link

RA Gibbs, J Rogers, MG Katze, R Bumgarner, GM Weinstock, ER Mardis, KA Remington, RL Strausberg, JC Venter, RK Wilson, MA Batzer, CD Bustamante, EE Eichler, MW Hahn, RC Hardison, KD Makova, W Miller, A Milosavljevic, RE Palermo, A Siepel, JM Sikela, T Attaway, S Bell, KE Bernard, CJ Buhay, MN Chandrabose, M Dao, C Davis, KD Delehaunty, Y Ding, HH Dinh, S Dugan-Rocha, LA Fulton, RA Gabisi, TT Garner, J Godfrey, AC Hawes, J Hernandez, S Hines, M Holder, J Hume, SN Jhangiani, V Joshi, ZM Khan, EF Kirkness, A Cree, RG Fowler, S Lee, LR Lewis, Z Li, Y-S Liu, SM Moore, DM Muzny, LV Nazareth, DN Ngo, GO Okwuonu, G Pai, D Parker, HA Paul, CM Pfannkoch, CS Pohl, Y-H Rogers, SJ Ruiz, A Sabo, J Santibanez, BW Schneider, SM Smith, EJ Sodergren, AF Svatek, TR Utterback, S Vattathil, W Warren, CS White, AT Chinwalla, Y Feng, AL Halpern, LW Hillier, X Huang, P Minx, JO Nelson, KH Pepin, X Qin, GG Sutton, E Venter, BP Walenz, JW Wallis, KC Worley, S-P Yang, SM Jones, MA Marra, M Rocchi, JE Schein, R Baertsch, L Clarke, M Csürös, J Glasscock, RA Harris, PH Havlak, AR Jackson, H Jiang, Y Liu, DN Messina, Y Shen, HX-Z Song, T Wylie, L Zhang, E Birney, K Han, MK Konkel, J Lee, AFA Smit, B Ullmer, H Wang, J Xing, RC Burhans, Z Cheng, JE Karro, J Ma, B Raney, X She, MJ Cox, JP Demuth, LJ Dumas, S-G Han, J Hopkins, A Karimpour-Fard, YH Kim, JR Pollack, T Vinar, C Addo-Quaye, J Degenhardt, A Denby, MJ Hubisz, A Indap, C Kosiol, BT Lahn, HA Lawson, A Marklein, R Nielsen, EJ Vallender, AG Clark, B Ferguson, RD Hernandez, K Hirani, H Kehrer-Sawatzki, J Kolb, S Patil, L-L Pu, Y Ren, DG Smith, DA Wheeler, I Schenck, EV Ball, R Chen, DN Cooper, B Giardine, F Hsu, WJ Kent, A Lesk, DL Nelson, WE O’Brien, K Prüfer, PD Stenson, JC Wallace, H Ke, X-M Liu, P Wang, AP Xiang, F Yang, GP Barber, D Haussler, D Karolchik, AD Kern, RM Kuhn, KE Smith, AS Zwieg. Evolutionary and Biomedical Insights from the Rhesus Macaque Genome. SCIENCE, 2007.

Sex chromosome Paper Link

D Blankenberg, J Taylor, I Schenck, J He, Y Zhang, M Ghent, N Veeraraghavan, I Albert, W Miller, KD Makova, RC Hardison, A Nekrutenko. A framework for collaborative analysis of ENCODE data: Making large-scale analyses biologist-friendly. GENOME RES, 2007.

Paper Link

MP Goetting-Minesky, KD Makova. Mammalian Male Mutation Bias: Impacts of Generation Time and Regional Variation in Substitution Rates. J MOL EVOL, 2006.

Regional variation Sex chromosome Paper Link

L Carrel, C Park, S Tyekucheva, J Dunn, F Chiaromonte, KD Makova. Genomic Environment Predicts Expression Patterns on the Human Inactive X Chromosome. PLOS GENET, 2006.

Sex chromosome Paper Link

W-H Li, KD Makova. Domain Duplication and Gene Elongation. eLS, 2006.

Regional variation Paper Link

J Taylor, S Tyekucheva, M Zody, F Chiaromonte, KD Makova. Strong and Weak Male Mutation Bias at Different Sites in the Primate Genomes: Insights from the Human-Chimpanzee Comparison. MOL BIOL EVOL, 2006.

Regional variation Sex chromosome Paper Link

W-Y Chung, R Albert, I Albert, A Nekrutenko, KD Makova. Rapid and asymmetric divergence of duplicate genes in the human gene coexpression network. BMC BIOINFORMATICS, 2006.

Regional variation Paper Link

KD Makova, H Norton. Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans. PEPTIDES, 2005.

Regional variation Paper Link

A Nekrutenko, S Wadhawan, MP Goetting-Minesky, KD Makova. Oscillating Evolution of a Mammalian Locus with Overlapping Reading Frames: An XLαs/ALEX Relay. PLOS GENET, 2005.

Regional variation Paper Link

International Chicken Genome Sequencing Consortium, LW Hillier, W Miller, E Birney, W Warren, RC Hardison, CP Ponting, P Bork, DW Burt, MAM Groenen, ME Delany, JB Dodgson, AT Chinwalla, PF Cliften, SW Clifton, KD Delehaunty, C Fronick, RS Fulton, TA Graves, C Kremitzki, D Layman, V Magrini, JD McPherson, TL Miner, P Minx, WE Nash, MN Nhan, JO Nelson, LG Oddy, CS Pohl, J Randall-Maher, SM Smith, JW Wallis, S-P Yang, MN Romanov, CM Rondelli, B Paton, J Smith, D Morrice, L Daniels, HG Tempest, L Robertson, JS Masabanda, DK Griffin, A Vignal, V Fillon, L Jacobbson, S Kerje, L Andersson, RPM Crooijmans, J Aerts, JJ van der Poel, H Ellegren, RB Caldwell, SJ Hubbard, DV Grafham, AM Kierzek, SR McLaren, IM Overton, H Arakawa, KJ Beattie, Y Bezzubov, PE Boardman, JK Bonfield, MDR Croning, RM Davies, MD Francis, SJ Humphray, CE Scott, RG Taylor, C Tickle, WRA Brown, J Rogers, J-M Buerstedde, SA Wilson, L Stubbs, I Ovcharenko, L Gordon, S Lucas, MM Miller, H Inoko, T Shiina, J Kaufman, J Salomonsen, K Skjoedt, GK-S Wong, J Wang, B Liu, J Wang, J Yu, H Yang, M Nefedov, M Koriabine, PJ deJong, L Goodstadt, C Webber, NJ Dickens, I Letunic, M Suyama, D Torrents, C von Mering, EM Zdobnov, KD Makova, A Nekrutenko, L Elnitski, P Eswara, DC King, S Yang, S Tyekucheva, A Radakrishnan, RS Harris, F Chiaromonte, J Taylor, J He, M Rijnkels, S Griffiths-Jones, A Ureta-Vidal, MM Hoffman, J Severin, SMJ Searle, AS Law, D Speed, D Waddington, Z Cheng, E Tuzun, EE Eichler, Z Bao, P Flicek, DD Shteynberg, MR Brent, JM Bye, EJ Huckle, S Chatterji, C Dewey, L Pachter, A Kouranov, Z Mourelatos, AG Hatzigeorgiou, AH Paterson, R Ivarie, M Brandstrom, E Axelsson, N Backstrom, S Berlin, MT Webster, O Pourquie, A Reymond, C Ucla, SE Antonarakis, M Long, JJ Emerson, E Betrán, I Dupanloup, H Kaessmann, AS Hinrichs, G Bejerano, TS Furey, RA Harte, B Raney, A Siepel, WJ Kent, D Haussler, E Eyras, R Castelo, JF Abril, S Castellano, F Camara, G Parra, R Guigo, G Bourque, G Tesler, PA Pevzner, AFA Smit, LA Fulton, ER Mardis, RK Wilson. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. NATURE, 2004.

Regional variation Sex chromosome Paper Link

W Miller, KD Makova, A Nekrutenko, RC Hardison. COMPARATIVE GENOMICS. ANNU REV GENOM HUM G, 2004.

Paper Link

Rat Genome Sequencing Project Consortium, RA Gibbs, GM Weinstock, ML Metzker, DM Muzny, EJ Sodergren, S Scherer, G Scott, D Steffen, KC Worley, PE Burch, GO Okwuonu, S Hines, LR Lewis, C DeRamo, O Delgado, S Dugan-Rocha, G Miner, M Morgan, AC Hawes, R Gill, CRA Holt, MD Adams, PG Amanatides, H Baden-Tillson, M Barnstead, S Chin, CA Evans, S Ferriera, C Fosler, A Glodek, Z Gu, D Jennings, CL Kraft, T Nguyen, CM Pfannkoch, C Sitter, GG Sutton, JC Venter, T Woodage, D Smith, H-M Lee, E Gustafson, P Cahill, A Kana, L Doucette-Stamm, K Weinstock, K Fechtel, RB Weiss, DM Dunn, ED Green, RW Blakesley, GG Bouffard, PJ de Jong, K Osoegawa, B Zhu, MA Marra, JE Schein, I Bosdet, C Fjell, SM Jones, M Krzywinski, C Mathewson, A Siddiqui, N Wye, JD McPherson, S Zhao, CM Fraser, J Shetty, S Shatsman, K Geer, Y Chen, S Abramzon, WC Nierman, RA Gibbs, GM Weinstock, PH Havlak, R Chen, K James Durbin, A Egan, Y Ren, HX-Z Song, B Li, Y Liu, X Qin, S Cawley, GM Weinstock, KC Worley, AJ Cooney, RA Gibbs, LM D’Souza, K Martin, J Qian Wu, ML Gonzalez-Garay, AR Jackson, KJ Kalafus, MP McLeod, A Milosavljevic, D Virk, A Volkov, DA Wheeler, Z Zhang, JA Bailey, EE Eichler, E Tuzun, E Birney, E Mongin, A Ureta-Vidal, C Woodwark, EM Zdobnov, P Bork, M Suyama, D Torrents, M Alexandersson, BJ Trask, JM Young, D Smith, H Huang, K Fechtel, H Wang, H Xing, K Weinstock, S Daniels, D Gietzen, J Schmidt, K Stevens, U Vitt, J Wingrove, F Camara, M Mar Albà, JF Abril, R Guigo, AFA Smit, I Dubchak, EM Rubin, O Couronne, A Poliakov, N Hübner, D Ganten, C Goesele, O Hummel, T Kreitler, Y-A Lee, J Monti, H Schulz, H Zimdahl, H Himmelbauer, H Lehrach, HJ Jacob, S Bromberg, J Gullings-Handley, MI Jensen-Seaman, AE Kwitek, J Lazar, D Pasko, PJ Tonellato, S Twigger, CP Ponting, JM Duarte, S Rice, L Goodstadt, SA Beatson, RD Emes, EE Winter, C Webber, P Brandt, G Nyakatura, M Adetobi, F Chiaromonte, L Elnitski, P Eswara, RC Hardison, M Hou, D Kolbe, KD Makova, W Miller, A Nekrutenko, C Riemer, S Schwartz, J Taylor, S Yang, Y Zhang, K Lindpaintner, TD Andrews, M Caccamo, M Clamp, L Clarke, V Curwen, R Durbin, E Eyras, SMJ Searle, GM Cooper, S Batzoglou, M Brudno, A Sidow, EA Stone, J Craig Venter, BA Payseur, G Bourque, C López-Otín, XS Puente, K Chakrabarti, S Chatterji, C Dewey, L Pachter, N Bray, VB Yap, A Caspi, G Tesler, PA Pevzner, D Haussler, KM Roskin, R Baertsch, H Clawson, TS Furey, AS Hinrichs, D Karolchik, WJ Kent, KR Rosenbloom, H Trumbower, M Weirauch, DN Cooper, PD Stenson, B Ma, MR Brent, M Arumugam, DD Shteynberg, RR Copley, MS Taylor, H Riethman, U Mudunuri, J Peterson, M Guyer, A Felsenfeld, S Old, S Mockrin, F Collins. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. NATURE, 2004.

Regional variation Sex chromosome Paper Link

KD Makova, S Yang, F Chiaromonte. Insertions and Deletions Are Male Biased Too: A Whole-Genome Analysis in Rodents. GENOME RES, 2004.

Regional variation Paper Link

PR John, KD Makova, W-H Li, T Jenkins, M Ramsay. DNA Polymorphism and Selection at the Melanocortin-1 Receptor Gene in Normally Pigmented Southern African Individuals. ANN NY ACAD SCI, 2003.

Regional variation Paper Link

JL Longmire, JL Roach, M Maltbie, PS White, OL Tatum, KD Makova, DC Hahn. Tetranucleotide microsatellite markers for the Brown-headed Cowbird Molothrus ater. J AVIAN BIOL, 2003.

Non-B DNA & Microsatellite Paper Link

KD Makova, W-H Li. Divergence in the Spatial Pattern of Gene Expression Between Human Duplicate Genes. GENOME RES, 2003.

Regional variation Paper Link

J Mu, J Duan, KD Makova, DA Joy, CQ Huynh, OH Branch, W-H Li, X-Z Su. Chromosome-wide SNPs reveal an ancient origin for Plasmodium falciparum. NATURE, 2002.

Regional variation Paper Link

KD Makova, W-H Li. Strong male-driven evolution of DNA sequences in humans and apes. NATURE, 2002.

Regional variation Sex chromosome Paper Link

A Nekrutenko, KD Makova, W-H Li. The K A/K S Ratio Test for Assessing the Protein-Coding Potential of Genomic Regions: An Empirical and Simulation Study. GENOME RES, 2002.

Regional variation Paper Link

W-H Li, S Yi, KD Makova. Male-driven evolution. CURR OPIN GENET DEV, 2002.

Regional variation Sex chromosome Paper Link

KD Makova, M Ramsay, T Jenkins, W-H Li. Human DNA Sequence Variation in a 6.6-kb Region Containing the Melanocortin 1 Receptor Promoter. GENETICS, 2001.

Regional variation Publication

J-C Liu, KD Makova, RM Adkins, S Gibson, W-H Li. Episodic Evolution of Growth Hormone in Primates and Emergence of the Species Specificity of Human Growth Hormone Receptor. MOL BIOL EVOL, 2001.

Regional variation Paper Link

KD Makova, A Nekrutenko, RJ Baker. Evolution of Microsatellite Alleles in Four Species of Mice (Genus Apodemus). J MOL EVOL, 2000.

Non-B DNA & Microsatellite Paper Link

A Nekrutenko, KD Makova, RJ Baker. Isolation of binary species-specific PCR-based markers and their value for diagnostic applications. GENE, 2000.

Non-B DNA & Microsatellite Paper Link

A Nekrutenko, KD Makova, RK Chesser, RJ Baker. Representational difference analysis to distinguish cryptic species. MOL ECOL, 1999.

Non-B DNA & Microsatellite Paper Link

RJ Baker, KD Makova, RK Chesser. Microsatellites indicate a high frequency of multiple paternity in Apodemus (Rodentia). MOL ECOL, 1999.

Non-B DNA & Microsatellite Paper Link

KD Makova, JC Patton. Increased Yield of Tri- and Tetranucleotide Heterospecific Microsatellites from Unenriched Small-Insert Libraries. BIOTECHNIQUES, 1998.

Non-B DNA & Microsatellite Paper Link

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