检索结果 - Chunlin Xiao
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Similarities and differences between variants called with human reference genome HG19 or HG38 由 Bohu Pan, Rebecca Kusko, Wenming Xiao, Yuanting Zheng, Zhichao Liu, Chunlin Xiao, Sugunadevi Sakkiah, Wenjing Guo, Ping Gong, Chaoyang Zhang, Weigong Ge, Leming Shi, Weida Tong, Huixiao Hong
出版 2019Artigo -
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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 2018Pré-impressão -
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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 2019Artigo -
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A diploid assembly-based benchmark for variants in the major histocompatibility complex 由 Chen-Shan Chin, Justin Wagner, Qiandong Zeng, Erik Garrison, Shilpa Garg, Arkarachai Fungtammasan, Mikko Rautiainen, Sergey Aganezov, Melanie Kirsche, Samantha Zarate, Michael C. Schatz, Chunlin Xiao, William J. Rowell, Charles Markello, Jesse Farek, Fritz J. Sedlazeck, Vikas Bansal, Byunggil Yoo, Neil Miller, Xin Zhou, Andrew Carroll, Álvaro Martínez Barrio, Marc Salit, Tobias Marschall, Alexander Dilthey, Justin M. Zook
出版 2020Artigo -
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Evaluation of somatic copy number variation detection by NGS technologies and bioinformatics tools on a hyper-diploid cancer genome 由 Daniall Masood, Luyao Ren, Cu Nguyen, Francesco Brundu, Lily Zheng, Yongmei Zhao, Erich Jaeger, Yong Li, Seong Won, Aaron R. Halpern, Sean Truong, Michael J. Virata, Chunhua Yan, Qingrong Chen, Andy Wing Chun Pang, R. Alberto, Chunlin Xiao, Zhaowei Yang, Wanqiu Chen, Charles Wang, F Richardson Cross, Severine Catreux, Leming Shi, Julia A. Beaver, Wenming Xiao, Daoud Meerzaman
出版 2024Artigo -
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Small variant benchmark from a complete assembly of X and Y chromosomes 由 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
出版 2025Artigo -
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 由 Andrew J. Sharp, Heather C. Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E. Stevenson, Richard J. Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Cátálin Bárbácioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina Regan, Victoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M. Cooper, Samantha J.L. Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E. Schwartz, Evan E. Eichler
出版 2008Artigo -
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Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study 由 Yongmei Zhao, Li Tai Fang, Tsai-Wei Shen, Sulbha Choudhari, Keyur Talsania, Xiongfong Chen, Jyoti Shetty, Yuliya Kriga, Bao Tran, Bin Zhu, Zhong Chen, Wanqiu Chen, Charles Wang, Erich Jaeger, Daoud Meerzaman, Charles Lu, Kenneth B. Idler, Luyao Ren, Yuanting Zheng, Leming Shi, Virginie Petitjean, Marc Sultan, Tiffany Hung, Eric Peters, Jir̆ı́ Drábek, Petr Vojta, Roberta Maestro, Daniela Gasparotto, Sulev Kõks, Ene Reimann, Andreas Scherer, Jessica Nordlund, Ulrika Liljedahl, Jonathan Foox, Christopher E. Mason, Chunlin Xiao, Huixiao Hong, Wenming Xiao
出版 2021Artigo -
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A complete reference genome improves analysis of human genetic variation 由 Sergey Aganezov, Stephanie M. Yan, Daniela C. Soto, Melanie Kirsche, Samantha Zarate, Pavel Avdeyev, Dylan J. Taylor, Kishwar Shafin, Alaina Shumate, Chunlin Xiao, Justin Wagner, Jennifer McDaniel, Nathan D. Olson, Michael Sauria, Mitchell R. Vollger, Arang Rhie, Melissa Meredith, Skylar Martin, Joyce Lee, Sergey Koren, Jeffrey Rosenfeld, Benedict Paten, Ryan M. Layer, Chen-Shan Chin, Fritz J. Sedlazeck, Nancy F. Hansen, Danny E. Miller, Adam M. Phillippy, Karen H. Miga, Rajiv C. McCoy, Megan Y. Dennis, Justin M. Zook, Michael C. Schatz
出版 2021Pré-impressão -
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A complete reference genome improves analysis of human genetic variation 由 Sergey Aganezov, Stephanie M. Yan, Daniela C. Soto, Melanie Kirsche, Samantha Zarate, Pavel Avdeyev, Dylan J. Taylor, Kishwar Shafin, Alaina Shumate, Chunlin Xiao, Justin Wagner, Jennifer McDaniel, Nathan D. Olson, Michael Sauria, Mitchell R. Vollger, Arang Rhie, Melissa Meredith, Skylar Martin, Joyce Lee, Sergey Koren, Jeffrey Rosenfeld, Benedict Paten, Ryan M. Layer, Chen-Shan Chin, Fritz J. Sedlazeck, Nancy F. Hansen, Danny E. Miller, Adam M. Phillippy, Karen H. Miga, Rajiv C. McCoy, Megan Y. Dennis, Justin M. Zook, Michael C. Schatz
出版 2022Artigo -
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Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies 由 Keyur Talsania, Tsai-Wei Shen, Xiongfong Chen, Erich Jaeger, Zhipan Li, Zhong Chen, Wanqiu Chen, Bao Tran, Rebecca Kusko, Limin Wang, Andy Wing Chun Pang, Zhaowei Yang, Sulbha Choudhari, Michael Colgan, Li Tai Fang, Andrew Carroll, Jyoti Shetty, Yuliya Kriga, Oksana German, Tatyana I. Smirnova, Tiantain Liu, Jing Li, Ben Kellman, Karl Hong, Alex Hastie, Aparna Natarajan, Ali Moshrefi, Anastasiya Granat, Tiffany Truong, Robin G. Bombardi, Veronnica Mankinen, Daoud Meerzaman, Christopher E. Mason, Jack Collins, Eric Stahlberg, Chunlin Xiao, Charles Wang, Wenming Xiao, Yongmei Zhao
出版 2022Artigo -
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Curated variation benchmarks for challenging medically relevant autosomal genes 由 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
出版 2022Artigo -
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Benchmarking challenging small variants with linked and long reads 由 Justin Wagner, Nathan D. Olson, Lindsay Harris, Ziad Khan, Jesse Farek, Medhat Mahmoud, Ana Stanković, Vladimir Kovačević, Byunggil Yoo, Neil Miller, Jeffrey Rosenfeld, Bohan Ni, Samantha Zarate, Melanie Kirsche, Sergey Aganezov, Michael C. Schatz, Giuseppe Narzisi, Marta Byrska-Bishop, Wayne E. Clarke, Uday S. Evani, Charles Markello, Kishwar Shafin, Xin Zhou, Arend Sidow, Vikas Bansal, Peter Ebert, Tobias Marschall, Peter M. Lansdorp, Vincent C. T. Hanlon, Carl-Adam Mattsson, Álvaro Martínez Barrio, Ian T. Fiddes, Chunlin Xiao, Arkarachai Fungtammasan, Chen-Shan Chin, Aaron M. Wenger, William J. Rowell, Fritz J. Sedlazeck, Andrew Carroll, Marc Salit, Justin M. Zook
出版 2022Artigo -
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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios 由 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, Evan E. Eichler, Jan O. Korbel, Charles Lee, Tobias Marschall, Scott E. Devine, William T. Harvey, Weichen Zhou, Ryan E. Mills, Tobias Rausch, Sushant Kumar, Can Alkan, Fereydoun Hormozdiari, Zechen Chong, Yu Chen, Xiaofei Yang, Jiadong Lin, Mark Gerstein, Kai Ye, Qihui Zhu, Feyza Yilmaz, Chunlin Xiao
出版 2022Artigo -
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Benchmarking challenging small variants with linked and long reads 由 Justin Wagner, Nathan D. Olson, Lindsay Harris, Jennifer McDaniel, Ziad Khan, Jesse Farek, Medhat Mahmoud, Ana Stanković, Vladimir Kovačević, Byunggil Yoo, Neil Miller, Jeffrey Rosenfeld, Bohan Ni, Samantha Zarate, Melanie Kirsche, Sergey Aganezov, Michael C. Schatz, Giuseppe Narzisi, Marta Byrska-Bishop, Wayne E. Clarke, Uday S. Evani, Charles Markello, Kishwar Shafin, Xin Zhou, Arend Sidow, Vikas Bansal, Peter Ebert, Tobias Marschall, Peter M. Lansdorp, Vincent C. T. Hanlon, Carl-Adam Mattsson, Álvaro Martínez Barrio, Ian T. Fiddes, Chunlin Xiao, Arkarachai Fungtammasan, Chen-Shan Chin, Aaron M. Wenger, William J. Rowell, Fritz J. Sedlazeck, Andrew Carroll, Marc Salit, Justin M. Zook
出版 2020Pré-impressão -
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Assessing reproducibility of inherited variants detected with short-read whole genome sequencing 由 Bohu Pan, Luyao Ren, Vitor Onuchic, Meijian Guan, Rebecca Kusko, Steve Bruinsma, Len Trigg, Andreas Scherer, Baitang Ning, Chaoyang Zhang, Christine Glidewell-Kenney, Chunlin Xiao, Eric Donaldson, Fritz J. Sedlazeck, Gary P. Schroth, Gökhan Yavaş, Haiying Grunenwald, Haodong Chen, Heather Meinholz, Joe Meehan, Jing Wang, Jingcheng Yang, Jonathan Foox, Jun Shang, Kelci Miclaus, Lianhua Dong, Leming Shi, Marghoob Mohiyuddin, Mehdi Pirooznia, Ping Gong, Rooz Golshani, Russ Wolfinger, Samir Lababidi, Sayed Mohammad Ebrahim Sahraeian, Stephen T. Sherry, Tao Han, Tao Chen, Tieliu Shi, Wanwan Hou, Weigong Ge, Wen Zou, Wenjing Guo, Wenjun Bao, Wenzhong Xiao, Xiaohui Fan, Yoichi Gondo, Ying Yu, Yongmei Zhao, Zhenqiang Su, Zhichao Liu, Weida Tong, Wenming Xiao, Justin M. Zook, Yuanting Zheng, Huixiao Hong
出版 2022Artigo -
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A robust benchmark for germline structural variant detection 由 Justin M. Zook, Nancy F. Hansen, Nathan D. Olson, Lesley M. Chapman, James C. Mullikin, Chunlin Xiao, Stephen T. Sherry, Sergey Koren, Adam M. Phillippy, Paul C. Boutros, Sayed Mohammad Ebrahim Sahraeian, Vincent Huang, Alexandre Rouette, Noah Alexander, Christopher E. Mason, Iman Hajirasouliha, Camir Ricketts, Joyce Lee, Rick Tearle, Ian T. Fiddes, Álvaro Martínez Barrio, Jeremiah A. Wala, Andrew Carroll, Noushin Ghaffari, Oscar L. Rodriguez, Ali Bashir, Shaun D. Jackman, John J. Farrell, Aaron M. Wenger, Can Alkan, Arda Söylev, Michael C. Schatz, Shilpa Garg, George M. Church, Tobias Marschall, Ken Chen, Xian Fan, Adam C. English, Jeffrey Rosenfeld, Weichen Zhou, Ryan E. Mills, Jay M. Sage, Jennifer R. Davis, Michael D. Kaiser, John S. Oliver, Anthony P. Catalano, Mark Chaisson, Noah Spies, Fritz J. Sedlazeck, Marc Salit
出版 2019Pré-impressão -
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Extensive sequencing of seven human genomes to characterize benchmark reference materials 由 Justin M. Zook, David Catoe, Jennifer McDaniel, Lindsay Vang, Noah Spies, Arend Sidow, Ziming Weng, Yuling Liu, Christopher E. Mason, Noah Alexander, Elizabeth Hénaff, Alexa B. R. McIntyre, Dhruva Chandramohan, Feng Chen, Erich Jaeger, Ali Moshrefi, Khoa Pham, William Stedman, Tiffany Y Liang, Michael Saghbini, Željko Džakula, Alex Hastie, Han Cao, Gintaras Deikus, Eric E. Schadt, Robert Sebra, Ali Bashir, Rebecca Truty, Christopher Chang, Natali Gulbahce, Keyan Zhao, Srinka Ghosh, Fiona Hyland, Yutao Fu, Mark Chaisson, Chunlin Xiao, Jonathan Trow, Stephen T. Sherry, Alexander Wait Zaranek, Mad Price Ball, Jason Bobe, Preston W. Estep, George M. Church, Patrick Marks, Sofia Kyriazopoulou-Panagiotopoulou, Grace Zheng, Michael Schnall-Levin, Heather Ordonez, Patrice A. Mudivarti, Kristina Giorda, Ying Sheng, Karoline Bjarnesdatter Rypdal, Marc Salit
出版 2016Carta
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