檢索結果 - Slavé Petrovski

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  1. 1
    Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

    Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine 由 Slavé Petrovski, David B. Goldstein

    出版 2016
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    Carta
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  2. 2
    MTR-Viewer: identifying regions within genes under purifying selection

    MTR-Viewer: identifying regions within genes under purifying selection 由 Michael Silk, Slavé Petrovski, David B. Ascher

    出版 2019
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    Artigo
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  3. 3
    Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

    Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning 由 Dimitrios Vitsios, Ryan S. Dhindsa, Lawrence Middleton, Ayal B. Gussow, Slavé Petrovski

    出版 2021
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    Artigo
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  4. 4
    Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

    Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes 由 Slavé Petrovski, Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein

    出版 2013
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  5. 5
    The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

    The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes 由 Ayal B. Gussow, Slavé Petrovski, Quanli Wang, Andrew S. Allen, David B. Goldstein

    出版 2016
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  6. 6
    The importance of dynamic re-analysis in diagnostic whole exome sequencing

    The importance of dynamic re-analysis in diagnostic whole exome sequencing 由 Anna C. Need, Vandana Shashi, Kelly Schoch, Slavé Petrovski, David B. Goldstein

    出版 2016
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  7. 7
    Sequencing studies in human genetics: design and interpretation

    Sequencing studies in human genetics: design and interpretation 由 David B. Goldstein, Andrew S. Allen, Jonathan Keebler, Elliott H. Margulies, Steven Petrou, Slavé Petrovski, Shamil Sunyaev

    出版 2013
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    Revisão
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  8. 8
    Mosaic mutations in early-onset genetic diseases

    Mosaic mutations in early-onset genetic diseases 由 Matthew Halvorsen, Slavé Petrovski, Renée A. Shellhaas, Yingying Tang, Laura Gould, David B. Goldstein, Orrin Devinsky

    出版 2015
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  9. 9
    The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

    The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity 由 Slavé Petrovski, Ayal B. Gussow, Quanli Wang, Matthew Halvorsen, Yujun Han, William H. Weir, Andrew S. Allen, David B. Goldstein

    出版 2015
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  10. 10
    Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

    Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics 由 Ayal B. Gussow, Brett Copeland, Ryan S. Dhindsa, Quanli Wang, Slavé Petrovski, William H. Majoros, Andrew S. Allen, David B. Goldstein

    出版 2017
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  11. 11
    Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

    Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation 由 Joshua L. Traynelis, Michael Silk, Quanli Wang, Samuel F. Berkovic, Liping Liu, David B. Ascher, David J. Balding, Slavé Petrovski

    出版 2017
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  12. 12
    A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

    A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans 由 Qianqian Zhu, Dongliang Ge, Jessica M. Maia, Mingfu Zhu, Slavé Petrovski, Samuel P. Dickson, Erin L. Heinzen, Kevin V. Shianna, David Goldstein

    出版 2011
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  13. 13
    Time‐frequency mapping of the rhythmic limb movements distinguishes convulsive epileptic from psychogenic nonepileptic seizures

    Time‐frequency mapping of the rhythmic limb movements distinguishes convulsive epileptic from psychogenic nonepileptic seizures 由 Jade Bayly, John Carino, Slavé Petrovski, Michelle Smit, Dilini A. Fernando, Anita Vinton, Bernard Yan, Jayavardhana Gubbi, Marimuthu Palaniswami, Terence J. O’Brien

    出版 2013
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  14. 14
    Cancer-driving mutations are enriched in genic regions intolerant to germline variation

    Cancer-driving mutations are enriched in genic regions intolerant to germline variation 由 Dimitrios Vitsios, Ryan S. Dhindsa, Dorota Matelska, Jonathan Mitchell, Xuequing Zou, Joshua Armenia, Fengyuan Hu, Quanli Wang, Ben S. Sidders, Andrew R. Harper, Slavé Petrovski

    出版 2022
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  15. 15
    Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks

    Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks 由 K. Melodi McSweeney, Ayal B. Gussow, Shelton S. Bradrick, Sarah A. Dugger, Sahar Gelfman, Quanli Wang, Slavé Petrovski, Wayne N. Frankel, Michael J. Boland, David B. Goldstein

    出版 2016
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  16. 16
    Epileptic encephalopathy-causing mutations in <i>DNM1</i> impair synaptic vesicle endocytosis

    Epileptic encephalopathy-causing mutations in <i>DNM1</i> impair synaptic vesicle endocytosis 由 Ryan S. Dhindsa, Shelton S. Bradrick, Xiaodi Yao, Erin L. Heinzen, Slavé Petrovski, Brian J. Krueger, Michael R. Johnson, Wayne N. Frankel, Steven Petrou, Rebecca M. Boumil, David B. Goldstein

    出版 2015
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  17. 17
    Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population

    Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population 由 Slavé Petrovski, Jacques Fellay, Kevin V. Shianna, Nicole Carpenetti, Johnstone Kumwenda, Gift Kamanga, Deborah Kamwendo, Norman L. Letvin, Andrew J. McMichael, Barton F. Haynes, Myron S. Cohen, David B. Goldstein

    出版 2010
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  18. 18
    Annotating pathogenic non-coding variants in genic regions

    Annotating pathogenic non-coding variants in genic regions 由 Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matthew Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein

    出版 2017
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  19. 19
    Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

    Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis 由 Siddhartha Kar, Pedro M. Quirós, Muxin Gu, Tao Jiang, Jonathan Mitchell, Ryan Langdon, Vivek Iyer, Clea Bárcena, M. S. Vijayabaskar, Margarete A. Fabre, Paul Carter, Slavé Petrovski, Stephen Burgess, George S. Vassiliou

    出版 2022
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  20. 20
    Clonal hematopoiesis GWAS summary statistics

    Clonal hematopoiesis GWAS summary statistics 由 Siddhartha Kar, Pedro M. Quirós, Muxin Gu, Tao Jiang, Jonathan Mitchell, Ryan Langdon, Vivek Iyer, Clea Bárcena, M. S. Vijayabaskar, Margarete A. Fabre, Paul Carter, Slavé Petrovski, Stephen Burgess, George S. Vassiliou

    出版 2022
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