Výsledky vyhledávání - Giuseppe Narzisi

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  1. 1
    Comparing De Novo Genome Assembly: The Long and Short of It

    Comparing De Novo Genome Assembly: The Long and Short of It Autor Giuseppe Narzisi, Bud Mishra

    Vydáno 2011
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  2. 2
    The Challenge of Small-Scale Repeats for Indel Discovery

    The Challenge of Small-Scale Repeats for Indel Discovery Autor Giuseppe Narzisi, Michael C. Schatz

    Vydáno 2015
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  3. 3
    Feature-by-Feature – Evaluating De Novo Sequence Assembly

    Feature-by-Feature – Evaluating De Novo Sequence Assembly Autor Francesco Vezzi, Giuseppe Narzisi, Bud Mishra

    Vydáno 2012
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  4. 4
    Reevaluating Assembly Evaluations with Feature Response Curves: GAGE and Assemblathons

    Reevaluating Assembly Evaluations with Feature Response Curves: GAGE and Assemblathons Autor Francesco Vezzi, Giuseppe Narzisi, Bud Mishra

    Vydáno 2012
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  5. 5
    A multi-objective evolutionary approach to the protein structure prediction problem

    A multi-objective evolutionary approach to the protein structure prediction problem Autor Vincenzo Cutello, Giuseppe Narzisi, Giuseppe Nicosia

    Vydáno 2005
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  6. 6
    Hawkeye and AMOS: visualizing and assessing the quality of genome assemblies

    Hawkeye and AMOS: visualizing and assessing the quality of genome assemblies Autor Michael C. Schatz, Adam M. Phillippy, Doron D. Sommer, Arthur L. Delcher, Daniela Puiu, Giuseppe Narzisi, Steven L. Salzberg, Mihai Pop

    Vydáno 2011
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  7. 7
    Genome-wide somatic variant calling using localized colored de Bruijn graphs

    Genome-wide somatic variant calling using localized colored de Bruijn graphs Autor Giuseppe Narzisi, André Corvelo, Kanika Arora, Ewa A. Bergmann, Minita Shah, Rajeeva Musunuri, Anne‐Katrin Emde, Nicolas Robine, Vladimir Vacic, Michael C. Zody

    Vydáno 2018
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  8. 8
    Reducing INDEL calling errors in whole genome and exome sequencing data

    Reducing INDEL calling errors in whole genome and exome sequencing data Autor Han Fang, Yiyang Wu, Giuseppe Narzisi, Jason O'Rawe, Laura T. Jiménez Barrón, Julie Rosenbaum, Michael Ronemus, Ivan Iossifov, Michael C. Schatz, Gholson J. Lyon

    Vydáno 2014
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  9. 9
    Accurate de novo and transmitted indel detection in exome-capture data using microassembly

    Accurate de novo and transmitted indel detection in exome-capture data using microassembly Autor Giuseppe Narzisi, Jason O'Rawe, Ivan Iossifov, Han Fang, Yoon-ha Lee, Zihua Wang, Yiyang Wu, Gholson J. Lyon, Michael Wigler, Michael C. Schatz

    Vydáno 2014
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  10. 10
    Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

    Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes Autor Jack Humphrey, Sanan Venkatesh, Rahat Hasan, Jake T. Herb, Kátia de Paiva Lopes, Fahri Küçükali, Marta Byrska-Bishop, Uday Shankar Evani, Giuseppe Narzisi, Delphine Fagegaltier, Kristel Sleegers, Hemali Phatnani, David A. Knowles, Pietro Fratta, Towfique Raj

    Vydáno 2022
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  11. 11
    Indel variant analysis of short-read sequencing data with Scalpel

    Indel variant analysis of short-read sequencing data with Scalpel Autor Han Fang, Ewa A. Bergmann, Kanika Arora, Vladimir Vacic, Michael C. Zody, Ivan Iossifov, Jason O'Rawe, Yiyang Wu, Laura T. Jiménez Barrón, Julie Rosenbaum, Michael Ronemus, Yoon-ha Lee, Zihua Wang, Esra Dikoglu, Vaidehi Jobanputra, Gholson J. Lyon, Michael Wigler, Michael C. Schatz, Giuseppe Narzisi

    Vydáno 2016
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  12. 12
    High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

    High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios Autor Marta Byrska-Bishop, Uday S. Evani, Xuefang Zhao, Anna O. Basile, Haley Abel, Allison Regier, André Corvelo, Wayne E. Clarke, Rajeeva Musunuri, Kshithija Nagulapalli, Susan Fairley, Alexi Runnels, Lara Winterkorn, Ernesto Lowy, Paul Flicek, Søren Germer, Harrison Brand, Ira M. Hall, Michael E. Talkowski, Giuseppe Narzisi, Michael C. Zody

    Vydáno 2021
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  13. 13
    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data Autor Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J.F.A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle

    Vydáno 2020
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  14. 14
    <i>YES1</i> amplification is a mechanism of acquired resistance to EGFR inhibitors identified by transposon mutagenesis and clinical genomics

    <i>YES1</i> amplification is a mechanism of acquired resistance to EGFR inhibitors identified by transposon mutagenesis and clinical genomics Autor Pang‐Dian Fan, Giuseppe Narzisi, Anitha D. Jayaprakash, Elisa Venturini, Nicolas Robine, Peter Smibert, Søren Germer, Helena A. Yu, Emmet Jordan, Paul K. Paik, Yelena Y. Janjigian, Jamie E. Chaft, Lu Wang, Achim A. Jungbluth, Sumit Middha, Lee Spraggon, Huan Qiao, Christine M. Lovly, Mark G. Kris, Gregory J. Riely, Katerina Politi, Harold Varmus, Marc Ladanyi

    Vydáno 2018
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  15. 15
    ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

    ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions Autor Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew M. Gross, Giuseppe Narzisi, Brett Bowman, Konrad Scheffler, Joke J.F.A. van Vugt, Courtney E. French, Alba Sanchis‐Juan, Kristina Ibáñez, Arianna Tucci, Bryan R. Lajoie, Jan H. Veldink, F. Lucy Raymond, Ryan J. Taft, David Bentley, Michael A. Eberle

    Vydáno 2019
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  16. 16
    Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

    Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study Autor Jonathan Foox, Scott Tighe, Charles M. Nicolet, Justin M. Zook, Marta Byrska-Bishop, Wayne E. Clarke, Michael M. Khayat, Medhat Mahmoud, Phoebe K. Laaguiby, Zachary T. Herbert, Derek Warner, George S. Grills, Jin Jen, Shawn Levy, Jenny Xiang, Alicia Alonso, Xia Zhao, Wenwei Zhang, Fei Teng, Yonggang Zhao, Haorong Lu, Gary P. Schroth, Giuseppe Narzisi, William G. Farmerie, Fritz J. Sedlazeck, Don A. Baldwin, Christopher E. Mason

    Vydáno 2021
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  17. 17
    Small variant benchmark from a complete assembly of X and Y chromosomes

    Small variant benchmark from a complete assembly of X and Y chromosomes Autor Justin Wagner, Nathan D. Olson, Jennifer McDaniel, Lindsay Harris, Brendan J. Pinto, David Jáspez, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, José M. Lorenzo-Salazar, Carlos Flores, Sayed Mohammad Ebrahim Sahraeian, Giuseppe Narzisi, Marta Byrska-Bishop, Uday S. Evani, Chunlin Xiao, Juniper A. Lake, Peter Fontana, Craig S. Greenberg, Donald Freed, Mohammed Faizal Eeman Mootor, Paul C. Boutros, Lisa Murray, Kishwar Shafin, Andrew Carroll, Fritz J. Sedlazeck, Melissa A. Wilson, Justin M. Zook

    Vydáno 2025
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  18. 18
    De Novo Gene Disruptions in Children on the Autistic Spectrum

    De Novo Gene Disruptions in Children on the Autistic Spectrum Autor Ivan Iossifov, Michael Ronemus, Dan Levy, Zihua Wang, Inessa Hakker, Julie Rosenbaum, Boris Yamrom, Yoonha Lee, Giuseppe Narzisi, Anthony Leotta, Jude Kendall, Ewa Grabowska, Beicong Ma, Steven C. Marks, Linda Rodgers, Asya Stepansky, Jennifer Troge, Peter Andrews, Mitchell A. Bekritsky, Kith Pradhan, Elena Ghiban, Melissa Kramer, Jennifer Parla, Ryan Demeter, Lucinda Fulton, Robert S. Fulton, Vincent Magrini, Kenny Ye, Jennifer C. Darnell, Robert B. Darnell, Elaine R. Mardis, Richard K. Wilson, Michael C. Schatz, W. Richard McCombie, Michael Wigler

    Vydáno 2012
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  19. 19
    Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads

    Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads Autor Ayse Keskus, Asher Bryant, Tanveer Ahmad, Byunggil Yoo, Sergey Aganezov, Anton Goretsky, Ataberk Donmez, Lisa A. Lansdon, Isabel Rodriguez, Jimin Park, Yuelin Liu, Xiwen Cui, Joshua Gardner, Brandy McNulty, Samuel Sacco, Jyoti Shetty, Yongmei Zhao, Bao Tran, Giuseppe Narzisi, Adrienne Helland, Daniel E. Cook, Pi-Chuan Chang, Alexey Kolesnikov, Andrew Carroll, Erin K. Molloy, Irina Pushel, Erin Guest, Tomi Pastinen, Kishwar Shafin, Karen H. Miga, Salem Malikić, Chi-Ping Day, Nicolas Robine, S. Cenk Şahinalp, Michael Dean, Midhat S. Farooqi, Benedict Paten, Mikhail Kolmogorov

    Vydáno 2024
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  20. 20
    Curated variation benchmarks for challenging medically relevant autosomal genes

    Curated variation benchmarks for challenging medically relevant autosomal genes Autor Justin Wagner, Nathan D. Olson, Lindsay Harris, Jennifer McDaniel, Haoyu Cheng, Arkarachai Fungtammasan, Yih-Chii Hwang, Richa Gupta, Aaron M. Wenger, William J. Rowell, Ziad Khan, Jesse Farek, Yiming Zhu, Aishwarya Pisupati, Medhat Mahmoud, Chunlin Xiao, Byunggil Yoo, Sayed Mohammad Ebrahim Sahraeian, Danny E. Miller, David Jáspez, José M. Lorenzo-Salazar, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, Carlos Flores, Giuseppe Narzisi, Uday S. Evani, Wayne E. Clarke, Joyce Lee, Christopher E. Mason, Stephen E. Lincoln, Karen H. Miga, Mark Ebbert, Alaina Shumate, Heng Li, Chen-Shan Chin, Justin M. Zook, Fritz J. Sedlazeck

    Vydáno 2022
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