OMICS & BIOMEDICAL APPLICATIONS

REPRESENTATIVE PUBLICATIONS

  • Arbeithuber B., Cremona M., Hester J., Barrett A., Higgins B., Anthony K., Chiaromonte F., Diaz F.J., Makova K.D. (2022). Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues. Proceedings of the National Academy of Sciences USA, 119 (15) e2118740119. doi.org/10.1073/pnas.2118740119
  • Nandy D., Craig S.J.C., Cai J., Tian Y., Paul I.M., Savage J.S., Marini M.E., Hohman E.E., Reimherr M.L., Patterson A.D., Makova K.D., Chiaromonte F. (2021) Metabolomic profiling of stool of two-year old children from the INSIGHT study reveals links between butyrate and child weight outcomes. Pediatric Obesity, 17(1) e12833. doi.org/10.1111/ijpo.12833.
  • Craig S., Kenney A.M., Lin J., Paul I.M., Birch L.L., Savage J.S., Marini M.E., Chiaromonte F., Reimherr M.L. and Makova K.D. (2021) Constructing a polygenic risk score for childhood obesity using functional data analysis. Econometrics and Statistics. doi.org/10.1016/ j.ecosta.2021.10.014.
  • Boschi T., Di Iorio J., Testa L., Cremona M., Chiaromonte F. (2021) Functional Data Analysis characterizes the shapes of the first COVID-19 epidemic wave in Italy. Scientific Reports. 11, 17054. doi.org/10.1038/s41598-021-95866-y.
  • Guiblet W., DeGiorgio M., Cheng X., Chiaromonte F., Eckert K., Huang Y.-F., Makova K.D. (2021) Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome. Genome Research. 31, 1136-1149. doi.org/10.1101/gr.269589.120.
  • Guiblet W., Cremona M.A., Harris R.S., Chen D., Eckert K.A., Chiaromonte F., Huang Y., Makova K.D. (2021) Non-B DNA: A major contributor to small- and large-scale variation in nucleotide substitution frequencies across the genome. Nucleic Acids Research. gkaa1269. doi.org/10.1093/nar/gkaa1269.
  • Chen D., Cremona M.A., Qi Z., Mitra R., Chiaromonte F., Makova K.D. (2020) Human L1 Transposition Dynamics Unraveled with Functional Data Analysis. Molecular Biology and Evolution. 37(12), 3576–3600. doi.org/10.1093/molbev/msaa194.
  • Mughal M., Koch H., Huang J., Chiaromonte F., De Giorgio M. (2020) Learning the properties of adaptive regions with functional data analysis. PLoS Genetics. 16(8): e1008896. doi.org/10.1371/journal.pgen.1008896.
  • Arbeithuber B., Hester J., Cremona M.A., Stoler N., Zaidi A., Higgins B., Anthony K., Chiaromonte F., Diaz F.J., Makova K.D. (2020) Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues. PLoS Biology. 18(7): e3000745. doi.org/10.1371/journal.pbio.3000745.
  • Cechova M., Harris R.S., Tomaszkiewicz M., Arbeithuber B., Chiaromonte F., Makova K.D. (2019) High satellite repeat turnover in great apes studied with short- and long-read technologies. Molecular Biology and Evolution. 36(11), 2415–2431. doi.org/10.1093/molbev/msz156.
  • Guiblet W.M., Cremona M.A., Cechova M., Harris R.S., Kejnovská I., Kejnovsky E., Eckert K., Chiaromonte F., Makova K.D.(2018). Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate. Genome Research 28(12), 1767-1778. doi.org/10.1101/gr.241257.118.
  • Craig S., Blankenberg D., Parodi A., Paul I.M., Birch L.L., Savage J.S., Marini M.E., Stokes J.L., Nekrutenko A., Reimherr M., Chiaromonte F., Makova K.D. (2018). Child weight gain trajectories linked to oral microbiota composition. Scientific Reports 8(1), 14030. doi.org/10.1038/s41598-018-31866-9.
  • Pangenomics Consortium (2018). Computational pan-genomics: status, promises and challenges. Briefings in Bioinformatics 19(1), 118-135. doi.org/10.1093/bib/bbw089.
  • Campos-Sanchez R., Cremona M., Pini A., Chiaromonte F. and Makova K.D. (2016) Integration and fixation preferences of human and mouse endogenous retroviruses uncovered with Functional Data Analysis. PLoS Computational Biology 12(6): e1004956. doi.org/10.1371/ journal.pcbi.1004956.
  • Rebolledo-Jaramilloa B., Shu-Wei M., Stoler N., McElhoec J.A., Dickins B., Blankenberg D., Korneliussen T.S., Chiaromonte F., Nielsen R., Holland M.M., Paul I., Nekrutenko A. and Makova K.D. (2014). Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA. Proceedings of the National Academy of Sciences USA 111(43), 15474–15479. doi.org/10.1073/pnas.1409328111.
  • Campos-Sanchez R., Kapusta A., Feschotte C., Chiaromonte F. and Makova K.D. (2014). Genomic landscape of human, bat and ex vivo DNA transposon integration. Molecular Biology and Evolution, 31(7), 1816–1832. doi.org/10.1093/molbev/msu138.
  • Kuruppumullage Don P., Andanda G., Chiaromonte F. and Makova K.D. (2013) Segmenting the human genome based on states of neutral genetic divergence. Proceedings of the National Academy of Sciences USA, 110(36), 14699–14704. doi.org/10.1073/pnas.1221792110.
  • Ananda G., Walsh E., Jacob K.D., Krasilnikova M., Eckert K.A., Chiaromonte F., Makova K.D. (2012) Distinct mutational behaviors distinguish simple tandem repeats from microsatellites in the human genome. Genome Biology and Evolution, 5(3), 606–620. doi.org/10.1093/gbe/evs116.
  • Wagstaff B.J., Hedges D.J., Derbes R.S., Campos Sanchez R., Chiaromonte F., Makova K.D. and Roy-Engel A.M. (2012) Rescuing Alu: recovery of new inserts shows LINE-1 preserves Alu activity through A-tail expansion. PLoS Genetics, 8(8) e1002842.
  • Fungtammasan , Walsh E., Chiaromonte F., Eckert K.A., Makova K.D. (2012) A Genome-Wide Analysis of Common Fragile Sites: What Features determine chromosomal instability in the human genome? Genome Research, 22, 993-1005.
  • Kelkar Y.D., Eckert K.A. Chiaromonte F. and Makova K.D. (2011) A matter of life and death: how microsatellites emerge in and vanish from the human genome. Genome Research, 21(12), 2038-2048.
  • Wu W., Cheng Y., Keller C.A., Kumar S.A., Ernst J., Mishra T., Morrissey C., Dorman C.M., Chen K.B., Drautz D., Giardine B., Shibata Y., Song L., Crawford G.E., Furey T.S., Kellis M., Miller W., Taylor J., Schuster S.C., Zhang Y., Chiaromonte F., Blobel G.L., Weiss M.J. and Hardison R.C. (2011) Dynamics of the Epigenetic Landscape During Erythroid Differentiation after GATA1 Restoration. Genome Research, 21(10), 1659-1671.
  • Ananda G., Chiaromonte F. and Makova K.D. (2011) A genome-wide view of mutation rate co-variation using multivariate analyses. Genome Biology, 12(3):R27.
  • Simeonov I., Gong X., Kim O., Poss M., Chiaromonte F. and Fricks J. (2010) Exploratory spatial analysis of in vitro Respiratory Syncytial Virus co-infections. Viruses, 2(12), 2782-2802.
  • Kelkar Y.D., Strubczewski N., Hile S.E., Chiaromonte F., Eckert K.A. and Makova K.D. (2010) What Is a Microsatellite: A Computational and Experimental Definition Based upon Repeat Mutational Behavior at A/T and GT/AC Repeats. Genome Biology and Evolution, 2, 620-635.
  • Schuster S., Miller W. et al. (2010) Complete Khoisan and Bantu genomes from southern Africa. Nature, 463, 943-947.
  • Cheng Y., Wu W., Kumar S.A., Yu D., Deng W., Tripic T., King D.C., Chen K.B., Zhang Y., Drautz D., Giardine B., Schuster S.C., Miller W., Chiaromonte F., Zhang Yu, Blobel G.A., Weiss M.J. and Hardison R.C. (2009) Erythroid GATA1 function revealed by genome-wide analysis of transcription factor occupancy, histone modifications and mRNA expression. Genome Research, 19, 2172-2184.
  • Roy , Lavine J., Chiaromonte F., Terwee J., VandeWoude S., Bjornstad O. and Poss M. (2009) Multivariate statistical analyses demonstrate unique host immune responses to single and dual lentiviral infection. PLoS ONE, 4(10) e7359.
  • Zhang Y., Wu W., Cheng Y., King D.C., Harris R.S., Taylor J., Chiaromonte F. and Hardison R.C. (2009) Primary sequence and epigenetic determinants of in vivo occupancy of genomic DNA by GATA1. Nucleic Acids Research.
  • Kvikstad E.M., Chiaromonte F. and Makova K.D. (2009) Ride the wavelet: a multi-scale analysis of genomic context flanking small insertions and deletions. Genome Research, 19, 1153-1164.
  • Cheng Y., King D.C., Dore L.C., Zhang X., Zhou Y., Zhang Y., Dorman C., Abebe D., Kumar S., Chiaromonte F., Miller W., Green R.D., Weiss M.J. and Hardison R.C. (2008) Transcriptional enhancement by GATA1-occupied DNA segments is strongly associated with evolutionary constraint on the binding site motif. Genome Research, 18, 1896-1905.
  • Kelkar Y., Tyekucheva S., Chiaromonte F. and Makova K. (2008) The genome-wide determinants of microsatellite evolution. Genome Research, 18, 30-38.
  • Tyekucheva S., Makova K., Karro J. Hardison R.C., Miller W. and Chiaromonte F. (2008) Human-macaque comparisons illuminate variation in neutral substitution rates. Genome Biology, 9(4): R76.
  • Gutiérrez R.A., Lejay L., Chiaromonte F., Shasha D.E. and Coruzzi G.M. (2007) Qualitative network models and genome-wide expression data define carbon/nitrogen-responsive molecular machines in Arabidopsis. Genome Biology, 8(1): R7.
  • King D.C., Taylor J., Zhang Y., Cheng Y., Lawson H.A., Martin J., ENCODE groups for Transcriptional Regulation and Multispecies Alignment, Chiaromonte F., Miller W. and Hardison R.C. (2007) Finding cis-regulatory modules using comparative genomics: some lessons from ENCODE data. Genome Research, 17, 775-786.
  • Kvikstad E.M., Tyekucheva S., Chiaromonte F. and Makova K.D. (2007) A macaque’s-eye view of human insertions and deletions: differences in mechanisms. PLoS Computational Biology, 3(9) e176, 1772-1782.
  • Cesari P., Chiaromonte F. and Newell K.M. (2007) Support Vector Machines Categorize the Scaling of Human Grip Configurations. Behavior Research Methods, 39(4), 1001-1007.
  • Wang H., Zhang Y., Petrykowska H., Cheng Y., Zhou Y., King D., Kasturi J., Taylor J., Chiaromonte F., Miller W., Welch J., Weiss M. and Hardison R. (2006) Experimental validation of predicted mammalian erythroid cis-regulatory modules. Genome Research, 16, 1480-1492.
  • Carrel , Park C., Tyekucheva S., Dunn J., Chiaromonte F. and Makova K.D. (2006) Genomic environment predicts expression patterns on the human inactive X chromosome. PLoS Genetics, 2(9) e151, 1477-1486.
  • Taylor J., Tyekucheva S., Zody M., Chiaromonte F. and Makova K. (2006) Strong and weak male mutation bias at different sites in the primate genomes: insights from the human-chimpanzee comparison. Molecular Biology and Evolution, 23(3), 565-573.
  • King D.C., Taylor J., Elnitski L., Chiaromonte F., Miller W. and Hardison R.C. (2005) Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences. Genome Research, 15, 1051-1060.
  • Gibbs R. et al., Rat Genome Sequencing Project Consortium. (2004) Genome sequence of the brown Norway rat yields insights into mammalian evolution. Nature,428,493-521.
  • Hillier L. et al. International Chicken Genome Sequencing Consortium (2004). Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature, 432, 695–716.
  • Makova K.D., Yang S. and Chiaromonte F. (2004) Insertions and deletions are male-biased too: a whole-genome analysis in rodents. Genome Research, 14, 567-573.
  • Yang , Smit A.F., Schwartz S., Chiaromonte F., Roskin K. M., Haussler D., Miller W. and Hardison R.C. (2004) Patterns of insertions and their covariation with substitutions in the rat, mouse and human genomes. Genome Research, 14, 517-527.
  • Hardison R.C., Chiaromonte F., Kolbe D., Wang , Petrykowska H., Elnitski L., Yang S., Giardine B., Zhang Y., Riemer C., Schwartz S., Haussler D., Roskin K., Weber R., Diekhans M., Kent W.J., Weiss M.J., Welch J. and Miller W. (2003) Global prediction and tests for erythroid regulatory regions. Cold Spring Harbor Symposia in Quantitative Biology: The Genome of Homo Sapiens, 68, 335-345.
  • Chiaromonte F., Weber R. J., Roskin K.M., Diekhans M., Kent W.J. and Haussler D. (2003) The share of human genomic DNA under selection estimated from human-mouse genomic alignments. Cold Spring Harbor Symposia in Quantitative Biology: The Genome of Homo Sapiens, 68, 245-255.
  • Elnitski , Hardison R., Li J., Yang S., Kolbe D., Eswara P., O’Connor M., Schwartz S., Miller W. and Chiaromonte F. (2003) Distinguishing regulatory DNA from neutral sites. Genome Research, 13, 64-72.
  • Hardison R., Roskin K.M., Yang S., Diekhans M., Kent J.W., Weber R., Elnitski L., Li J., O’Connor M., Kolbe D., Schwartz S., Furey T.S., Whelan S., Goldman N., Smit A., Miller W., Chiaromonte F. and Haussler D. (2003) Co-variation in frequencies of substitution, deletion, transposition and recombination during eutherian evolution. Genome Research, 13, 13-26.
  • Chiaromonte F., Miller W. and Bouhassira E. (2003) Gene length and proximity to neighbors affect genome-wide expression levels. Genome Research, 13, 2602-2608.
  • Waterston, R. et al., International Mouse Genome Sequencing consortium (2002) Initial sequencing and comparative analysis of the mouse genome. Nature. 420, 520-562.
  • Chiaromonte F., Yang S., Elnitski L., Bing Yap V., Miller W. and Hardison R. (2001). Association between divergence and interspersed repeats in mammalian noncoding genomic DNA. Proceedings of the National Academy of Sciences USA, 98(25), 14503-14508.

 

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