检索结果 - Justin M. Zook

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  1. 1
    svviz: a read viewer for validating structural variants

    svviz: a read viewer for validating structural variants 由 Noah Spies, Justin M. Zook, Marc Salit, Arend Sidow

    出版 2015
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  2. 2
    Synthetic Spike-in Standards Improve Run-Specific Systematic Error Analysis for DNA and RNA Sequencing

    Synthetic Spike-in Standards Improve Run-Specific Systematic Error Analysis for DNA and RNA Sequencing 由 Justin M. Zook, Daniel V. Samarov, Jennifer McDaniel, Shurjo K. Sen, Marc Salit

    出版 2012
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  3. 3
    LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads

    LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads 由 Helyaneh Ziaei Jam, Justin M. Zook, Sara Javadzadeh, Jonghun Park, Aarushi Sehgal, Melissa Gymrek

    出版 2024
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  4. 4
    An analytical framework for optimizing variant discovery from personal genomes

    An analytical framework for optimizing variant discovery from personal genomes 由 Gareth Highnam, Jason Wang, Dean Kusler, Justin M. Zook, Vinaya Vijayan, Nir Leibovich, David Mittelman

    出版 2015
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  5. 5
    Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

    Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls 由 Justin M. Zook, Brad Chapman, Jason Wang, David Mittelman, Oliver Hofmann, Yoshihide Hayashizaki, Marc Salit

    出版 2014
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  6. 6
    Integrating sequencing datasets to form highly confident SNP and indel genotype calls for a whole human genome

    Integrating sequencing datasets to form highly confident SNP and indel genotype calls for a whole human genome 由 Justin M. Zook, Brad Chapman, Jason Wang, David Mittelman, Oliver Hofmann, Yoshihide Hayashizaki, Marc Salit

    出版 2013
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  7. 7
    Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes

    Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes 由 Chen-Shan Chin, Sairam Behera, Asif Khalak, Fritz J. Sedlazeck, Peter H. Sudmant, Justin Wagner, Justin M. Zook

    出版 2023
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  8. 8
    Medical implications of technical accuracy in genome sequencing

    Medical implications of technical accuracy in genome sequencing 由 Rachel L. Goldfeder, James R. Priest, Justin M. Zook, Megan E. Grove, Daryl Waggott, Matthew T. Wheeler, Marc Salit, Euan A. Ashley

    出版 2016
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  9. 9
    Genome-wide reconstruction of complex structural variants using read clouds

    Genome-wide reconstruction of complex structural variants using read clouds 由 Noah Spies, Ziming Weng, Alex Bishara, Jennifer McDaniel, David Catoe, Justin M. Zook, Marc Salit, Robert B. West, Serafim Batzoglou, Arend Sidow

    出版 2017
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  10. 10
    svclassify: a method to establish benchmark structural variant calls

    svclassify: a method to establish benchmark structural variant calls 由 Hemang Parikh, Marghoob Mohiyuddin, Hugo Y. K. Lam, Hariharan Iyer, Desu Chen, Mark Pratt, Gábor Bartha, Noah Spies, Wolfgang Losert, Justin M. Zook, Marc Salit

    出版 2016
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  11. 11
    Assembly and annotation of an Ashkenazi human reference genome

    Assembly and annotation of an Ashkenazi human reference genome 由 Alaina Shumate, Aleksey V. Zimin, Rachel M. Sherman, Daniela Puiu, Justin Wagner, Nathan D. Olson, Mihaela Pertea, Marc Salit, Justin M. Zook, Steven L. Salzberg

    出版 2020
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  12. 12
    A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

    A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing 由 Stephen E. Lincoln, Rebecca Truty, Chiao‐Feng Lin, Justin M. Zook, Joshua Paul, Vincent H. Ramey, Marc Salit, Heidi L. Rehm, Robert L. Nussbaum, Matthew S. Lebo

    出版 2019
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  13. 13
    Best practices for evaluating single nucleotide variant calling methods for microbial genomics

    Best practices for evaluating single nucleotide variant calling methods for microbial genomics 由 Nathan D. Olson, Steven P. Lund, Rebecca E. Colman, Jeffrey T. Foster, Jason W. Sahl, James M. Schupp, Paul Keim, Jayne B. Morrow, Marc Salit, Justin M. Zook

    出版 2015
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  14. 14
    Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materials

    Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materials 由 Justin M. Zook, Jennifer McDaniel, Hemang Parikh, Haynes Heaton, Sean A. Irvine, Len Trigg, Rebecca Truty, Cory Y. McLean, Francisco M. De La Vega, Chunlin Xiao, Stephen T. Sherry, Marc Salit

    出版 2018
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  15. 15
    FixItFelix: improving genomic analysis by fixing reference errors

    FixItFelix: improving genomic analysis by fixing reference errors 由 Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F. Paulin, Jesse Farek, Daniela C. Soto, Stephen C. J. Parker, Albert V. Smith, Megan Y. Dennis, Justin M. Zook, Fritz J. Sedlazeck

    出版 2023
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  16. 16
    The GIAB genomic stratifications resource for human reference genomes

    The GIAB genomic stratifications resource for human reference genomes 由 Nathan Dwarshuis, Divya Kalra, Jennifer McDaniel, Philippe Sanio, Pilar Álvarez Jerez, Bharati Jadhav, Wenyu Huang, Ritwik Mondal, Ben Busby, Nathan D. Olson, Fritz J. Sedlazeck, Justin Wagner, Sina Majidian, Justin M. Zook

    出版 2024
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  17. 17
    Comparing Variant Call Files for Performance Benchmarking of Next-Generation Sequencing Variant Calling Pipelines

    Comparing Variant Call Files for Performance Benchmarking of Next-Generation Sequencing Variant Calling Pipelines 由 John G. Cleary, Ross Braithwaite, Kurt Gaastra, Brian S. Hilbush, Stuart J. Inglis, Sean A. Irvine, Alan A. Jackson, Richard Littin, Mehul Rathod, David Ware, Justin M. Zook, Len Trigg, Francisco M. De La Vega

    出版 2015
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  18. 18
    An open resource for accurately benchmarking small variant and reference calls

    An open resource for accurately benchmarking small variant and reference calls 由 Justin M. Zook, Jennifer McDaniel, Nathan D. Olson, Justin Wagner, Hemang Parikh, Haynes Heaton, Sean A. Irvine, Len Trigg, Rebecca Truty, Cory Y. McLean, Francisco M. De La Vega, Chunlin Xiao, Stephen T. Sherry, Marc Salit

    出版 2019
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  19. 19
    Best practices for benchmarking germline small-variant calls in human genomes

    Best practices for benchmarking germline small-variant calls in human genomes 由 Peter Krusche, Len Trigg, Paul C. Boutros, Christopher E. Mason, Francisco M. De La Vega, Benjamin L. Moore, Mar González-Porta, Michael A. Eberle, Živana Težak, Samir Lababidi, Rebecca Truty, George Asimenos, Birgit Funke, Mark Fleharty, Brad Chapman, Marc Salit, Justin M. Zook

    出版 2019
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  20. 20
    Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies

    Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies 由 Ann M. Mc Cartney, Kishwar Shafin, Michael Alonge, Andrey V. Bzikadze, Giulio Formenti, Arkarachai Fungtammasan, Kerstin Howe, Chirag Jain, Sergey Koren, Glennis A. Logsdon, Karen H. Miga, Alla Mikheenko, Benedict Paten, Alaina Shumate, Daniela C. Soto, Ivan Sović, Jonathan Wood, Justin M. Zook, Adam M. Phillippy, Arang Rhie

    出版 2022
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