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  Research Group of Ivan Ovcharenko




Group Members


 



 
Di Huang
Staff Scientist, April 2015 - present
Postdoctoral Fellow, June 2010 - April 2015

Mapping biological pathways in tissue-specific enhancers
My project is aimed at decoding regulatory pathways underlying the development of specific tissues. An enhancer set driving the development of a specific tissue (e.g., heart) is heterogeneous, regulating different pathways and controlling the development of different sub-tissues. We are developing a method to map enhancers into different pathways, and predict the pathway-specific activity of enhancers. This method will provide novel analytical tools for an in detail characterization of enhancers identified using next-generation sequencing technologies.

    D. Huang and I. Ovcharenko
    The contribution of silencer variants to human diseases.
    Genome Biology, Jul 8;25(1):184 (2024) PDF

    D. Huang and I. Ovcharenko
    Enhancer-silencer transitions in the human genome.
    Genome Research, Mar;32(3):437-448 (2022) PDF

    D. Huang, H. Petrykowska, B. Miller, L. Elnitski and I. Ovcharenko
    Identification of human silencers by correlating cross-tissue epigenetic profiles and gene expression.
    Genome Research, 29(4):657-667 (2019) PDF

    D. Huang and I. Ovcharenko
    Epigenetic and genetic alterations and their influence on gene regulation in chronic lymphocytic leukemia.
    BMC Genomics, 18(1):236-245 (2017)

    Huang D and Ovcharenko I
    Identifying causal regulatory SNPs in ChIP-seq enhancers
    Nucleic Acids Research, 43(1):225-36 (2015) PDF

    Busser BW, Haimovich J, Huang D, Ovcharenko I, Michelson AM
    Integrative analysis of the zinc finger ncer modeling uncovers transcriptional signatures of individual cardiac cell states...
    Nucleic Acids Research, 43(3):1726-39 (2015)

    Busser BW*, Huang D*, Rogacki KR*, ... Bulyk ML, Ovcharenko I, Michelson AM
    Integrative analysis of the zinc finger transcription factor Lame duck in the Drosophila myogenic gene regulatory network
    PNAS, 109(50):20768-73 (2013) (* - co-first authors) PDF

    Ahmad SM*, Busser BW*, Huang D*, ... Bulyk ML, Ovcharenko I, Michelson AM
    Machine learning classification of cell-specific cardiac enhancers uncovers developmental subnetworks regulating
    progenitor cell division and cell fate specification
    Development, 141(4):878-88 (2014) (* - co-first authors) PDF

    Huang D and Ovcharenko I
    Genome-Wide Analysis of Functional and Evolutional Features of Tele-Enhancers
    G3: Genes, Genomes, Genetics, 4(4):579-93 (2014) PDF


 



 
Sanjarbek Hudaiberdiev
Staff Scientist, November 2024 - present
Staff Bioinformatics Scientist at GRAIL from January 2024 to October 2024.
Staff Scientist from February 2023 to December 2023.
Postdoctoral Fellow from March 2018 to February 2023.

    S. Hudaiberdiev and I. Ovcharenko
    Functional characteristics and computational model of abundant hyperactive loci in the human genome.
    eLife, 13:RP95170 (2024) PDF

    S. Hudaiberdiev, D.L. Taylor, W. Song, N. Narisu, ... Ovcharenko I, Collins FS.
    Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.
    PNAS, 120 (35) e2206612120 (2023) PDF

    C. Hill, S. Hudaiberdiev and I. Ovcharenko
    ChromDL: A Next-Generation Regulatory DNA Classifier.
    Bioinformatics, 39:i377-i385 (2023) PDF

    E.Z. Kvon, ... S. Hudaiberdiev, ... L.A. Pennacchio
    Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.
    Cell 180(6):1262-1271 (2020) PDF

 



 
Xiaoqin Huang
Research Fellow, October 2024 - present

Regulatory Genomics of Glaucoma and Drug Discovery.
My research focuses on two main areas: first, identifying and prioritizing causal genes for retinal diseases, particularly glaucoma, by leveraging artificial intelligence to integrate multi-omics data. The ultimate goal is to enable early detection and develop gene therapies for glaucoma. Second, I apply deep learning techniques to drug discovery, integrating transcriptional responses to chemical perturbations with gene regulatory elements. This approach aims to identify novel therapeutics by screening gene-based treatments for various diseases.
 



 
Jaya Srivastava
Postdoctoral Fellow, June 2022 - present

Understanding the genetic control of chromatin states to infer genotype-molecular phenotype correlations.
More than 90% of the phenotypic differences observed across mammals can be attributed to changes in regulatory regions of their genomes. My interests lie in identifying these differences within the human genome in comparison to closely related mammals and analyze the biological mechanisms that account for human-specific phenotypic features. To study this, I am repurposing deep learning models developed in-house that can capture nucleotide changes and predict altered phenotypic outcomes. The predictive power of these models can also be employed to identify changes that differentiate wild type from diseased state regulatory landscape. To this end, I am exploiting the models to identify causative mutations that lead to emergence of Polycystic Ovary Syndrome.

    J. Srivastava and I. Ovcharenko
    Regulatory plasticity of the human genome.
    bioRxiv, https://doi.org/10.1101/2024.11.13.623439 (2024) PDF



 



 
Gaetano Manzo
Postdoctoral Fellow, February 2024 - present

Comparative analysis of AI enhancers models.
My current research focuses on developing and comparing deep learning models for predicting the effects of genetic variants on enhancer activity. I am exploring how emerging transformer architectures, known for their ability to capture long-range dependencies and parallel processing, perform in this domain compared to more established convolutional neural networks (CNNs), which have demonstrated success in genomic sequence analysis. By leveraging these advanced architectures, the goal is to improve the accuracy and interpretability of predicting variant impacts on enhancer regions, which play a critical role in gene expression and complex trait heritability.






Alumni


  • Wei Song, Postdoctoral Fellow from January 2017 to October 2021. Staff Scientist from October 2021 to April 2024. Currently a Staff Scientist at the The National Institute on Deafness and Other Communication Disorders.

        W. Song and I. Ovcharenko
        Abundant repressor binding sites in human enhancers are associated with fine-tuning of gene regulation.
        iScience, in press (2025) PDF

        W. Song, R.Sharan and I. Ovcharenko
        The first enhancer in an enhancer chain safeguards subsequent enhancer-promoter contacts from a distance.
        Genome Biology, 20(1):197-207 (2019) PDF

        W. Song and I. Ovcharenko
        Dichotomy in redundant enhancers points to presence of initiators of gene regulation.
        BMC Genomics, 19(1):947-956 (2018)


  • Mehari Bayou Zerihun, Postdoctoral Fellow from May 2022 to June 2024.

  • Shan Li, Postdoctoral Fellow from April 2013 to October 2019. Currently a Staff Scientist at the The National Cancer Institute.

        S. Li, S. Hannenhalli and I. Ovcharenko
        De novo human brain enhancers created by single-nucleotide mutations.
        Science Advances, 9(7):1-18 (2023) PDF

        S. Li and I. Ovcharenko
        Enhancer jungles establish robust tissue-specific regulatory control in the human genome.
        Genomics, 112(3):2261-2270 (2020) PDF

        S. Li, E. Kvon, A. Visel, L. Pennacchio and I. Ovcharenko
        Stable enhancers are active in development, and fragile enhancers are associated with evolutionary adaptation.
        Genome Biology, 20(1):140-149 (2019) PDF

        R. Vera Alvarez, S. Li, D. Landsman and I. Ovcharenko
        SNPDelScore: combining multiple methods to score deleterious effects of noncoding mutations in the human genom.
        Bioinformatics, 34(2):289-291 (2017)

        S. Li, R. Vera Alvarez, R. Sharan, D. Landsman and I. Ovcharenko
        Quantifying deleterious effects of regulatory variants.
        Nucleic Acids Research, 45(5):2307-2317 (2017)

        S. Li and I. Ovcharenko
        Human Enhancers Are Fragile and Prone to Deactivating Mutations.
        Molecular Biology and Evolution, 32(8):2161-2180 (2015) PDF

  • Mario Flores, Postdoctoral Fellow from January 2016 to December 2019. Currently an Assistant Professor at the University of Texas, San Antonio.

        M. Flores and I. Ovcharenko
        Enhancer reprogramming in mammalian genomes.
        BMC Bioinformatics, 19(1):316-324 (2018)

  • Justin Malin, Postdoctoral Fellow from January 2016 to September 2018. Currently a Postdoctoral Fellow at NCI.

  • Irina Hashmi, Postdoctoral Fellow from November 2015 to July 2016. Currently an Assistant Professor at George Mason University.

  • Konnor La, IRTA Postbaccalaureate Fellow from October 2013 to July 2015. Currently a Graduate Student at Cornell University.

  • Alexandra G. Cauer, Postbaccalaureate Fellow from June 2014 to July 2015. Currently a Graduate Student at the University of Washington.

  • Yupeng Wang, Postdoctoral Fellow from May 2013 to March 2015. Currently a Senior Bioinformatics Scientist at Inova Fairfax Hospital.

  • Parsa Hosseini, Visiting Graduate Student from July 2012 to November 2013. IRTA Postdoctoral Fellow from November 2013 to January 2015. Currently a Software Engineer at General Dynamics.

  • Radhouane Aniba, Postdoctoral Fellow from February 2013 to December 2013. Currently a Bioinformatician at the BC Cancer Agency, Canada.

  • Leila Taher, Postdoctoral Fellow from January 2008 to August 2012. Currently a Professor and the Institute Head at the Institute for Biomedical Informatics of the Graz University of Technology.

        L. Taher, L. Narlikar, I. Ovcharenko
        Identification and Computational Analysis of Gene Regulatory Elements
        Cold Spring Harbor Protocols, 2015(1):24-51 (2015) PDF

        Visel A, Taher L, ... Ovcharenko I, Pennacchio LA, Rubenstein JL (25 authors)
        A High-Resolution Enhancer Atlas of the Developing Telencephalon
        Cell, (2013) PDF

        G. Burzynski*, X. Reed*, L. Taher*, Z.E. Stine, T. Matsui, I. Ovcharenko, A.S. McCallion
        Systematic elucidation and in vivo validation of the sequence basis of hindbrain transcriptional control
        Genome Research, 22(11):2278-89 (2012) (* - co-first authors) PDF

        BW. Busser*, L. Taher*, Y. Kim, T. Tansey, MJ. Bloom, I. Ovcharenko, AM. Michelson
        A machine learning approach for identifying novel cell type-specific transcriptional regulators of myogenesis
        PLoS Genetics, 8(3):e1002531 (2012) (* - co-first authors) PDF

        L. Taher, L. Narlikar, I. Ovcharenko
        CLARE: Cracking the LAnguage of Regulatory Elements
        Bioinformatics, 28(4):581-3 (2012) PDF

        L. Taher, D.M. McGaughey, S. Maragh, I. Aneas, S.L. Bessling, W. Miller, M.A. Nobrega, A.S. McCallion, I. Ovcharenko
        Genome-wide identification of conserved regulatory function in diverged sequences
        Genome Research, 21(7), 1139-1149 (2011) PDF

        L. Taher, N.M. Collette, D. Murugesh, E. Maxwell, I. Ovcharenko, G.G. Loots
        Global gene expression analysis of murine limb development
        PLoS ONE, 6(12):e28358 (2011)

        Martin D, ... Taher L, ... Ovcharenko I, ... Gómez-Skarmeta JL.(22 authors)
        Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes.
        Nat Struct Mol Biol. 18(6):708-14 (2011)

        Rochman M, Taher L, Kurahashi T, Cherukuri S, Uversky VN, Landsman D, Ovcharenko I, Bustin M.
        Effects of HMGN variants on the cellular transcription profile.
        Nucleic Acids Res. 39(10):4076-87 (2011)

        Hellsten U, ... Ovcharenko I, ... Taher L, ... Rokhsar DS (48 authors)
        The Genome of the Western Clawed Frog Xenopus tropicalis.
        Science (2010) 328:633-636

        Taher L, Ovcharenko I.
        Variable locus length in the human genome leads to ascertainment bias in functional inference for non-coding elements.
        Bioinformatics (2009) 25(5):578-84

  • Chih-Hao Hsu, Postdoctoral Fellow from August 2010 to August 2012. Currently a Research Fellow at the National Cancer Institute.

        Hsu CH, Ovcharenko I.
        Effects of Gene Regulatory Reprogramming on Gene Expression in Human and Mouse Developing Hearts
        Philosophical Transactions B (2013) 368(1620):20120366

  • Chris Lasher, Postdoctoral Fellow from January 2012 to September 2012. Currently a Bioinformatics Analyst and Software Engineer at 5AM Solutions.
  • Hani Girgis, Postdoctoral Fellow from January 2010 to March 2011. Currently an Assistant Professor at the University of Tulsa

        Visel A, Taher L, Girgis H, ... Ovcharenko I, Pennacchio LA, Rubenstein JL (25 authors)
        A High-Resolution Enhancer Atlas of the Developing Telencephalon
        Cell, (2013) PDF

        Girgis HZ and Ovcharenko I.
        Predicting tissue specific cis-regulatory modules in the human genome using pairs of co-occurring motifs.
        BMC Bioinformatics (2012) 13:25

  • Evan Maxwell, Summer Student (2010). Currently a Pre-Doctoral Fellow at NHGRI.
  • Peter Cote, Summer Student (2010). Currently a Graduate Student at the University of Illinois at Urbana-Champaign.
  • Valer Gotea, Ph.D., Postdoctoral Fellow from September 2007 to May 2010. Currently a Postdoctoral Fellow at NHGRI.

        Gotea V, Ovcharenko I.
        DiRE: identifying distant regulatory elements of co-expressed genes.
        Nucleic Acids Res. (2008) 36:W133-9

        Gotea V, Visel A, Westlund JM, Nobrega MA, Pennacchio LA, Ovcharenko I.
        Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers.
        Genome Research. (2010) 20(5):565-77

        Jacox E, Gotea V, Ovcharenko I, Elnitski L.
        Tissue-specific and ubiquitous expression patterns from alternative promoters of human genes.
        PLoS One. (2010) 5(8):e12274.

  • Chao Tian, Ph.D., Postdoctoral Fellow from August 2009 to February 2010. Currently a Senior Scientist at Complete Genomics
  • Leelavati Narlikar, Ph.D., Postdoctoral Fellow from April 2008 to July 2009. Currently a Group Leader at the National Chemical Laboratory in Pune, India.

        L. Taher, L. Narlikar, I. Ovcharenko
        Identification and Computational Analysis of Gene Regulatory Elements
        Cold Spring Harbor Protocols, 2015(1):24-51 (2015) PDF

        Narlikal L, Ovcharenko I.
        Identifying regulatory elements in eukaryotic genomes
        Brief Funct Genomic Proteomic, 2009

        Narlikal L, Sakabe NJ, Blanski AA, Arimura FE, Westlund JM, Nobrega MA, Ovcharenko I.
        Genome-wide discovery of human heart enhancers
        Genome Research, 2010

        L. Taher, L. Narlikar, I. Ovcharenko
        CLARE: Cracking the LAnguage of Regulatory Elements
        Bioinformatics, 2012

  • Andrew Heekin, Summer Student (2009). Currently a Research Computational Biologist at USDA ARS.
  • Yevgeniy Gindin, Summer Student (2009). Currently a Graduate Student at Boston University.
  • David Tao, High School Summer Student (2009).
  • Brian Abraham, Summer Student (2008). Currently a Postdoctoral Associate at the Whitehead Institute for Biomedical Research.
  • Ryan Vo, High School Summer Student (2008).



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