Kathleen Hill, APN
Regulatory Coordinator II- Chaos Game Representation
- Genomic Signatures
- Machine Learning
- Mutagenesis
- Mutation Signatures
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CD44 and RHAMM Are Microenvironmental Sensors with Dual Metastasis Promoter and Suppressor Functions.; Advanced biology; (2024).
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Leveraging machine learning for taxonomic classification of emerging astroviruses; Frontiers in Molecular Biosciences; (2024).
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Decoding Mitochondrial–Nuclear (epi)genome Interactions: The Emerging Role of ncRNAs; Epigenomics; (2023).
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Environment and taxonomy shape the genomic signature of prokaryotic extremophiles; Scientific Reports; (2023).
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iDeLUCS: a deep learning interactive tool for alignment-free clustering of DNA sequences; Bioinformatics; (2023).
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Environment and taxonomy shape the genomic signature of prokaryotic extremophiles; Unknown Source; (2023).
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iDeLUCS: A deep learning interactive tool for alignment-free clustering of DNA sequences; Unknown Source; (2023).
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Mutational Patterns Observed in SARS-CoV-2 Genomes Sampled From Successive Epochs Delimited by Major Public Health Events in Ontario, Canada: Genomic Surveillance Study; JMIR Bioinformatics and Biotechnology; (2022).
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Genomic surveillance of SARS-CoV-2 in Ontario, Canada reveals biases in mutational patterns between successive epochs delimited by major public health events (Preprint); Unknown Source; (2022).
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SomaticSiMu: a mutational signature simulator; Bioinformatics; (2022).
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Colonization of <i>Brachypodium distachyon</i> by <i>Gluconacetobacter diazotrophicus</i> and its effect on plant growth promotion; Canadian Journal of Plant Science; (2022).
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DeLUCS: Deep learning for unsupervised clustering of DNA sequences; PLOS ONE; (2022).
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Differential Gene Expression of Brachypodium distachyon Roots Colonized by Gluconacetobacter diazotrophicus and the Role of BdCESA8 in the Colonization; Molecular Plant-Microbe Interactions®; (2021).
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Machine learning using intrinsic genomic signatures for rapid classification of novel pathogens: COVID-19 case study; PLoS ONE; (2020).
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Postzygotic Somatic Mutations in the Human Brain Expand the Threshold-Liability Model of Schizophrenia; Frontiers in Psychiatry; (2020).
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MLDSP-GUI: An alignment-free standalone tool with an interactive graphical user interface for DNA sequence comparison and analysis; Bioinformatics; (2020).
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Embracing an interdisciplinary approach to plastics pollution awareness and action; Ambio; (2019).
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ML-DSP: Machine Learning with Digital Signal Processing for ultrafast, accurate, and scalable genome classification at all taxonomic levels; BMC Genomics; (2019).
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Spatial statistical tools for genome-wide mutation cluster detection under a microarray probe sampling system; PLoS ONE; (2018).
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Genomic copy number variation in Mus musculus; BMC Genomics; (2015).
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Mapping the space of genomic signatures; PLoS ONE; (2015).
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Whole-retina reduced electrophysiological activity in mice bearing retina-specific deletion of vesicular acetylcholine transporter; PLoS ONE; (2015).
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Relatively high rates of G: C → A: T transitions at CpG sites were observed in certain epithelial tissues including pancreas and submaxillary gland of adult big blue® mice; Environmental and Molecular Mutagenesis; (2014).
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Indentation and needle insertion properties of the human eye; Eye (Basingstoke); (2014).
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Identification of anomalous features of intravitreal injections using micro-computed tomography; Current Eye Research; (2013).
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HD-CNV: Hotspot detector for copy number variants; Bioinformatics; (2013).
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A framework for modeling ocular drug transport and flow through the eye using micro-CT; Physics in Medicine and Biology; (2012).
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Vision deficits precede structural losses in a mouse model of mitochondrial dysfunction and progressive retinal degeneration; Experimental Eye Research; (2011).
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Mutation frequency is not elevated in the cerebellum of harlequin/Big Blue® mice but Class II deletions occur preferentially in young harlequin cerebellum; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2011).
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Ocular pathology relevant to glaucoma in a Gja1 <sup>Jrt/+</sup> mouse model of human oculodentodigital dysplasia; Investigative Ophthalmology and Visual Science; (2011).
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Radiation exposure differentially affects songbird 8-hydroxy-2′-deoxyguanosine plasma profiles: Ionizing radiation damage response in songbirds; Environmental and Molecular Mutagenesis; (2011).
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A novel Escherichia coli-derived mutation detected with the Big Blue® cII mutant selectable assay; Environmental and Molecular Mutagenesis; (2010).
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Heart tissue of harlequin (hq)/Big Blue<sup>®</sup> mice has elevated reactive oxygen species without significant impact on the frequency and nature of point mutations in nuclear DNA; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2010).
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Spontaneous mutation frequency is elevated in skin of harlequin (hq)/Big Blue® mice; Mutagenesis; (2010).
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A novel germline mutation in Big Blue® mice; Environmental and Molecular Mutagenesis; (2009).
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Risk factors for inhibitor formation in haemophilia: A prevalent case-control study; Haemophilia; (2009).
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Somatic microindels in human cancer: The insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates; Human Molecular Genetics; (2008).
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Evidence for mutation showers; Proceedings of the National Academy of Sciences of the United States of America; (2007).
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Somatic microindels: Analysis in mouse soma and comparison with the human germline; Human Mutation; (2007).
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A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin; Proceedings of the National Academy of Sciences of the United States of America; (2007).
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Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature; Human Mutation; (2007).
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Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype; Carcinogenesis; (2006).
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Preferential occurrence of 1-2 microindels; Human Mutation; (2006).
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Viral genome compression; Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); (2006).
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The spectrum of genomic signatures: From dinucleotides to chaos game representation; Gene; (2005).
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Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in big blue mice; Environmental and Molecular Mutagenesis; (2005).
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Spontaneous Mutation in Big Blue® Mice from Fetus to Old Age: Tissue-Specific Time Courses of Mutation Frequency but Similar Mutation Types; Environmental and Molecular Mutagenesis; (2004).
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Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2004).
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Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity; Mutation Research - Genetic Toxicology and Environmental Mutagenesis; (2003).
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Single-Cell Immunohistochemical Mutation Load Assay (SCIMLA) Using Human Paraffin-Embedded Tissues; Environmental and Molecular Mutagenesis; (2003).
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Is Alu-mediated recombination an important cause of hemophilia?; Thrombosis and Haemostasis; (2002).
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Microdissection and molecular analysis of single cells or small cell clusters in pathology and diagnosis - Significance and challenges; Analytical Cellular Pathology; (2002).
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Toward efficient analysis of mutations in single cells from ethanol-fixed, paraffin-embedded, and immunohistochemically stained tissues; Laboratory Investigation; (2002).
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p53 as a mutagen test in breast cancer; Environmental and Molecular Mutagenesis; (2002).
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Frequency of recent retrotransposition events in the human factor IX gene; Human Mutation; (2001).
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Human germline mutation in the factor IX gene; Mutation Research - DNA Repair; (2001).
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Mutation frequency is reduced in the cerebellum of Big Blue® mice overexpressing a human wild type SOD1 gene; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2001).
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Spontaneous microdeletions and microinsertions in a transgenic mouse mutation detection system: Analysis of age, tissue, and sequence specificity; Environmental and Molecular Mutagenesis; (2001).
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Evidence that proximal multiple mutations in Big Blue® transgenic mice are dependent events; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2000).
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High plating density improves Big Blue® system efficiency without loss of sensitivity; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (2000).
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Spontaneous mutation frequency and pattern in Big Blue® mice fed a vitamin E-supplemented diet; Environmental and Molecular Mutagenesis; (1999).
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Spontaneous mutations in the Big Blue® transgenic system are primarily mouse derived; Mutation Research - Reviews in Mutation Research; (1999).
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Tandem-base mutations occur in mouse liver and adipose tissue preferentially as G:C to T:A transversions and accumulate with age; Environmental and Molecular Mutagenesis; (1999).
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The Big Blue® transgenic mouse mutation detection assay: The mutation pattern of sectored mutant plaques; Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis; (1999).
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