Ngā hua rapu - Peter A. Audano

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  1. 1
    KAnalyze: a fast versatile pipelined K-mer toolkit

    KAnalyze: a fast versatile pipelined K-mer toolkit mā Peter A. Audano, Fredrik Vannberg

    I whakaputaina 2014
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  2. 2
    SVision: a deep learning approach to resolve complex structural variants

    SVision: a deep learning approach to resolve complex structural variants mā Jiadong Lin, Songbo Wang, Peter A. Audano, Deyu Meng, Jacob I. Flores, Walter A. Kosters, Xiaofei Yang, Peng Jia, Tobias Marschall, Christine R. Beck, Kai Ye

    I whakaputaina 2022
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  3. 3
    Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

    Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall mā William T. Harvey, Peter Ebert, Jana Ebler, Peter A. Audano, Katherine M. Munson, Kendra Hoekzema, David Porubský, Christine R. Beck, Tobias Marschall, Kiran Garimella, Evan E. Eichler

    I whakaputaina 2023
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  4. 4
    Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants

    Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants mā Yaoxi He, Xin Luo, Bin Zhou, Ting Hu, Xiaoyu Meng, Peter A. Audano, Zev Kronenberg, Evan E. Eichler, Jie Jin, Y. Guo, Yanan Yang, Xuebin Qi, Bing Su

    I whakaputaina 2019
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  5. 5
    Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo <scp><i>PAK2</i></scp> Variant

    Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo <scp><i>PAK2</i></scp> Variant mā Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, M. A. Kelly, Adam Matson

    I whakaputaina 2025
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  6. 6
    Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

    Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes mā Jana Ebler, Peter Ebert, Wayne E. Clarke, Tobias Rausch, Peter A. Audano, Torsten Houwaart, Yafei Mao, Jan O. Korbel, Evan E. Eichler, Michael C. Zody, Alexander Dilthey, Tobias Marschall

    I whakaputaina 2022
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  7. 7
    Utility of long-read sequencing for All of Us

    Utility of long-read sequencing for All of Us mā Medhat Mahmoud, Yongqing Huang, Kiran Garimella, Peter A. Audano, Wei Wan, Nripesh Prasad, Robert E. Handsaker, Steven C. Hall, A. Pionzio, Michael C. Schatz, Michael E. Talkowski, Evan E. Eichler, Shawn Levy, Fritz J. Sedlazeck

    I whakaputaina 2023
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  8. 8
    Utility of long-read sequencing for All of Us

    Utility of long-read sequencing for All of Us mā Medhat Mahmoud, Yongqing Huang, Kiran Garimella, Peter A. Audano, Wei Wan, Nripesh Prasad, Robert E. Handsaker, Steven C. Hall, A. Pionzio, Michael C. Schatz, Michael E. Talkowski, Evan E. Eichler, Shawn Levy, Fritz J. Sedlazeck

    I whakaputaina 2024
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  9. 9
    Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads

    Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads mā Mitchell R. Vollger, Glennis A. Logsdon, Peter A. Audano, Arvis Sulovari, David Porubský, Paul Peluso, Aaron M. Wenger, Gregory T. Concepcion, Zev Kronenberg, Katherine M. Munson, Carl Baker, Ashley D. Sanders, Diana C.J. Spierings, Peter M. Lansdorp, Urvashi Surti, Michael W. Hunkapiller, Evan E. Eichler

    I whakaputaina 2019
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  10. 10
    Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

    Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads mā David Porubský, Peter Ebert, Peter A. Audano, Mitchell R. Vollger, William T. Harvey, Pierre Marijon, Jana Ebler, Katherine M. Munson, Melanie Sorensen, Arvis Sulovari, Marina Haukness, Maryam Ghareghani, Peter M. Lansdorp, Benedict Paten, Scott E. Devine, Ashley D. Sanders, Charles Lee, Mark Chaisson, Jan O. Korbel, Evan E. Eichler, Tobias Marschall

    I whakaputaina 2020
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  11. 11
    Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

    Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies mā Xuefang Zhao, Ryan L. Collins, Wan‐Ping Lee, Alexandra M. Weber, Yukyung Jun, Qihui Zhu, Ben Weisburd, Yongqing Huang, Peter A. Audano, Harold Wang, Mark Walker, Chelsea Lowther, Jack Fu, Mark Gerstein, Scott E. Devine, Tobias Marschall, Jan O. Korbel, Evan E. Eichler, Mark Chaisson, Charles Lee, Ryan E. Mills, Harrison Brand, Michael E. Talkowski

    I whakaputaina 2021
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  12. 12
    Familial long-read sequencing increases yield of de novo mutations

    Familial long-read sequencing increases yield of de novo mutations mā Michelle D. Noyes, William T. Harvey, David Porubský, Arvis Sulovari, Ruiyang Li, Nicholas R. Rose, Peter A. Audano, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, Tuomo Mantere, Tina A. Graves-Lindsay, Ashley D. Sanders, Sara Goodwin, Melissa Kramer, Younes Mokrab, Michael C. Zody, Alexander Hoischen, Jan O. Korbel, W. Richard McCombie, Evan E. Eichler

    I whakaputaina 2022
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  13. 13
    Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

    Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders mā David Porubský, Wolfram Höps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodríguez–Martín, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T. Harvey, Barbara Henning, Peter A. Audano, David Gordon, Peter Ebert, Patrick Hasenfeld, Eva Benito, Qihui Zhu, Charles Lee, Francesca Antonacci, Matthias Steinrücken, Christine R. Beck, Ashley D. Sanders, Tobias Marschall, Evan E. Eichler, Jan O. Korbel

    I whakaputaina 2022
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  14. 14
    Structurally divergent and recurrently mutated regions of primate genomes

    Structurally divergent and recurrently mutated regions of primate genomes mā Yafei Mao, William T. Harvey, David Porubský, Katherine M. Munson, Kendra Hoekzema, Alexandra P. Lewis, Peter A. Audano, Allison N. Rozanski, Xiangyu Yang, Shilong Zhang, DongAhn Yoo, David Gordon, Tyler Fair, Xiaoxi Wei, Glennis A. Logsdon, Marina Haukness, Philip C. Dishuck, Hyeonsoo Jeong, Ricardo C.H. del Rosario, Vanessa L. Bauer, Will T. Fattor, Gregory K. Wilkerson, Yuxiang Mao, Yongyong Shi, Qiang Sun, Qing Lü, Benedict Paten, Trygve E. Bakken, Alex A. Pollen, Guoping Feng, Sara L. Sawyer, Wesley C. Warren, Lucia Carbone, Evan E. Eichler

    I whakaputaina 2024
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  15. 15
    A high-quality bonobo genome refines the analysis of hominid evolution

    A high-quality bonobo genome refines the analysis of hominid evolution mā Yafei Mao, Claudia Rita Catacchio, LaDeana Hillier, David Porubský, Ruiyang Li, Arvis Sulovari, Jason D. Fernandes, Francesco Montinaro, David Gordon, Jessica M. Storer, Marina Haukness, Ian T. Fiddes, Shwetha C. Murali, Philip C. Dishuck, PingHsun Hsieh, William T. Harvey, Peter A. Audano, Ludovica Mercuri, Ilaria Piccolo, Francesca Antonacci, Katherine M. Munson, Alexandra P. Lewis, Carl Baker, Jason G. Underwood, Kendra Hoekzema, Tzu‐Hsueh Huang, Melanie Sorensen, Jerilyn A. Walker, Jinna Hoffman, Françoise Thibaud‐Nissen, Sofie R. Salama, Andy Wing Chun Pang, Joyce Lee, Alex Hastie, Benedict Paten, Mark A. Batzer, Mark Diekhans, Mario Ventura, Evan E. Eichler

    I whakaputaina 2021
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  16. 16
    Human-specific tandem repeat expansion and differential gene expression during primate evolution

    Human-specific tandem repeat expansion and differential gene expression during primate evolution mā Arvis Sulovari, Ruiyang Li, Peter A. Audano, David Porubský, Mitchell R. Vollger, Glennis A. Logsdon, Wesley C. Warren, Alex A. Pollen, Mark Chaisson, Evan E. Eichler, Mark Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubský, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex Hastie, Danny Antaki, Thomas Anantharaman, Peter A. Audano, Harrison Brand, Stuart Cantsilieris, Han Cao, Eliza Cerveira, Chong Chen, Xintong Chen, Chen-Shan Chin, Zechen Chong, Nelson T. Chuang, Christine Lambert, Deanna M. Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur Galeey, David U. Gorkin, Madhusudan Gujral, Victor Guryev, Haynes Heaton, Jonas Korlach, Sushant Kumar, Jee Young Kwon, Ernest T. Lam, Jong Eun Lee, Joyce Lee, Wan‐Ping Lee, Sau Peng Lee, Shantao Li, Patrick Marks, Karine A. Viaud-Martinez, Sascha Meiers, Katherine M. Munson, Fábio C. P. Navarro, Bradley J. Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy Wing Chun Pang, Yunjiang Qiu, Gabriel Rosanio, Xian Mallory, Adrian M. Stütz, Diana C.J. Spierings, Alistair Ward, AnneMarie E. Welch, Ming Xiao, Wei Xu, Chengsheng Zhang, Qihui Zhu, Xiangqun Zheng-Bradley, Ernesto Lowy, Sergei Yakneen, Steven A. McCarroll, Goo Jun, Li Ding, Chong‐Lek Koh, Bing Ren, Paul Flicek, Ken Chen, Mark Gerstein, Pui‐Yan Kwok, Peter M. Lansdorp, Gábor Marth, Jonathan Sebat, Xinghua Shi, Ali Bashir, Kai Ye

    I whakaputaina 2019
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  17. 17
    Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

    Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility mā Wesley C. Warren, R. Alan Harris, Marina Haukness, Ian T. Fiddes, Shwetha C. Murali, Jason D. Fernandes, Philip C. Dishuck, Jessica M. Storer, Muthuswamy Raveendran, LaDeana Hillier, David Porubský, Yafei Mao, David Gordon, Mitchell R. Vollger, Alexandra P. Lewis, Katherine M. Munson, Elizabeth DeVogelaere, Joel Armstrong, Mark Diekhans, Jerilyn A. Walker, Chad Tomlinson, Tina A. Graves-Lindsay, Milinn Kremitzki, Sofie R. Salama, Peter A. Audano, Merly Escalona, Nicholas Maurer, Francesca Antonacci, Ludovica Mercuri, Flavia Angela Maria Maggiolini, Claudia Rita Catacchio, Jason G. Underwood, David H. O’Connor, Ashley D. Sanders, Jan O. Korbel, Betsy Ferguson, H. Michael Kubisch, Louis J. Picker, Ned H. Kalin, Douglas L. Rosene, Jon E. Levine, David H. Abbott, Stanton B. Gray, Mar M. Sánchez, Zsofia A. Kovacs-Balint, Joseph W. Kemnitz, Sara M. Thomasy, Jeffrey A. Roberts, Erin L. Kinnally, John P. Capitanio, J. H. Pate Skene, Michael L. Platt, Shelley A. Cole, Richard E. Green, Mario Ventura, Roger W. Wiseman, Benedict Paten, Mark A. Batzer, Jeffrey Rogers, Evan E. Eichler

    I whakaputaina 2020
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  18. 18
    Haplotype-resolved diverse human genomes and integrated analysis of structural variation

    Haplotype-resolved diverse human genomes and integrated analysis of structural variation mā Peter Ebert, Peter A. Audano, Qihui Zhu, Bernardo Rodríguez–Martín, David Porubský, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, Jiadong Lin, Tobias Rausch, Yu Chen, Jingwen Ren, Martín Santamarina, Wolfram Höps, Hufsah Ashraf, Nelson T. Chuang, Xiaofei Yang, Katherine M. Munson, Alexandra P. Lewis, Susan Fairley, Luke J. Tallon, Wayne E. Clarke, Anna O. Basile, Marta Byrska-Bishop, André Corvelo, Uday S. Evani, Tsung-Yu Lu, Mark Chaisson, Junjie Chen, Chong Li, Harrison Brand, Aaron M. Wenger, Maryam Ghareghani, William T. Harvey, Benjamin Raeder, Patrick Hasenfeld, Allison Regier, Haley Abel, Ira M. Hall, Paul Flicek, Oliver Stegle, Mark Gerstein, José M. C. Tubío, Zepeng Mu, Yang Li, Xinghua Shi, Alex Hastie, Kai Ye, Zechen Chong, Ashley D. Sanders, Michael C. Zody, Michael E. Talkowski, Ryan E. Mills, Scott E. Devine, Charles Lee, Jan O. Korbel, Tobias Marschall, Evan E. Eichler

    I whakaputaina 2021
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  19. 19
    Multi-platform discovery of haplotype-resolved structural variation in human genomes

    Multi-platform discovery of haplotype-resolved structural variation in human genomes mā Mark Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubský, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex Hastie, Danny Antaki, Peter A. Audano, Harrison Brand, Stuart Cantsilieris, Han Cao, Eliza Cerveira, Chong Chen, Xintong Chen, Chen-Shan Chin, Zechen Chong, Nelson T. Chuang, Christine Lambert, Deanna M. Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur R. Galeev, David U. Gorkin, Madhusudan Gujral, Victor Guryev, Haynes Heaton, Jonas Korlach, Sushant Kumar, Jee Young Kwon, Jong Eun Lee, Joyce Lee, Wan‐Ping Lee, Sau Peng Lee, Shantao Li, Patrick Marks, Karine A. Viaud‐Martinez, Sascha Meiers, Katherine M. Munson, Fábio C. P. Navarro, Bradley J. Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy Wing Chun Pang, Yunjiang Qiu, Gabriel Rosanio, Xian Mallory, Adrian M. Stütz, Diana C.J. Spierings, Alistair Ward, AnneMarie E. Welch, Ming Xiao, Wei Xu, Chengsheng Zhang, Qihui Zhu, Xiangqun Zheng-Bradley, Ernesto Lowy, Sergei Yakneen, Steven A. McCarroll, Goo Jun, Li Ding, Chong‐Lek Koh, Bing Ren, Paul Flicek, Ken Chen, Mark Gerstein, Pui‐Yan Kwok, Peter M. Lansdorp, Gábor Marth, Jonathan Sebat, Xinghua Shi, Ali Bashir, Kai Ye, Scott E. Devine, Michael E. Talkowski, Ryan E. Mills, Tobias Marschall, Jan O. Korbel, Evan E. Eichler, Charles Lee

    I whakaputaina 2017
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  20. 20
    Multi-platform discovery of haplotype-resolved structural variation in human genomes

    Multi-platform discovery of haplotype-resolved structural variation in human genomes mā Mark Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubský, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex Hastie, Danny Antaki, Thomas Anantharaman, Peter A. Audano, Harrison Brand, Stuart Cantsilieris, Han Cao, Eliza Cerveira, Chong Chen, Xintong Chen, Chen-Shan Chin, Zechen Chong, Nelson T. Chuang, Christine Lambert, Deanna M. Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur R. Galeev, David U. Gorkin, Madhusudan Gujral, Victor Guryev, Haynes Heaton, Jonas Korlach, Sushant Kumar, Jee Young Kwon, Ernest T. Lam, Jong Eun Lee, Joyce Lee, Wan-Ping Lee, Sau Peng Lee, Shantao Li, Patrick Marks, Karine A. Viaud‐Martinez, Sascha Meiers, Katherine M. Munson, Fábio C. P. Navarro, Bradley J. Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy Wing Chun Pang, Yunjiang Qiu, Gabriel Rosanio, Xian Mallory, Adrian M. Stütz, Diana C.J. Spierings, Alistair Ward, AnneMarie E. Welch, Ming Xiao, Wei Xu, Chengsheng Zhang, Qihui Zhu, Xiangqun Zheng-Bradley, Ernesto Lowy, Sergei Yakneen, Steven A. McCarroll, Goo Jun, Li Ding, Chong‐Lek Koh, Bing Ren, Paul Flicek, Ken Chen, Mark Gerstein, Pui‐Yan Kwok, Peter M. Lansdorp, Gábor Marth, Jonathan Sebat, Xinghua Shi, Ali Bashir, Kai Ye, Scott E. Devine, Michael E. Talkowski, Ryan E. Mills, Tobias Marschall, Jan O. Korbel, Evan E. Eichler, Charles Lee

    I whakaputaina 2019
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