Multi-platform discovery of haplotype-resolved structural variation in human genomes

Autor: Mark J. P. Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev N. Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex R. 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 C. Lambert, Deanna M. Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur Galeev, David U. Gorkin, Madhusudan Gujral, Victor Guryev, William 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 Viaud-Martinez, Sascha Meiers, Katherine M. Munson, Fabio C. P. Navarro, Bradley J. Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy W. C. Pang, Yunjiang Qiu, Gabriel Rosanio, Mallory Ryan, Adrian 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 McCarroll, Goo Jun, Li Ding, Chong Lek Koh, Bing Ren, Paul Flicek, Ken Chen, Mark B. Gerstein, Pui-Yan Kwok, Peter M. Lansdorp, Gabor T. 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

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.

Externí odkaz: https://doaj.org/article/1bf8e1b79b09479e9b177f1082c620e1

181 High throughput screening strategies in the development of logic gated cell therapies

Autor: Rona Harari-Steinfeld, Laura Lim, Angela Boroughs, Sofia Kyriazopoulou Panagiotopoulou, Cate Sue, Jamie Thomas, Jon Chen, Aaron Cooper, Ryan Fong, Mary Chua, Ed Yashin, Christine Shieh, Sophie Xu, Nicholas Haining

Publikováno v: Regular and Young Investigator Award Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::177766f7e99c02598d24f518bdc38f93
https://doi.org/10.1136/jitc-2022-sitc2022.0181

Multi-platform discovery of haplotype-resolved structural variation in human genomes

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

Publikováno v: Nature communications, vol 10, iss 1
Nature Communications
Nature Communications, 10(1):1784. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing technologies,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1812b43f37aee646c5f398fffc41b50a
https://escholarship.org/uc/item/78k7g077

Resolving the full spectrum of human genome variation using Linked-Reads

Autor: Francesca Meschi, Indira Wu, David Stafford, Andrew Wei Xu, Heather Ordonez, Jill Herschleb, Esty Holt, Tony Makarewicz, Shazia Mahamdallie, Elise Ruark, Josh Delaney, Adam Lowe, Pranav Patel, Stephen R. Williams, Christopher Hindson, Sarah T. Garcia, Nikka Keivanfar, Alvaro Martinez Barrio, Ian T. Fiddes, Keith Bjornson, Sheila Seal, Preyas Shah, Ariel Royall, Claudia Catalanotti, Patrick Marks, Jamie L. Marshall, Daniel G. MacArthur, Rajiv Bharadwaj, Nazneen Rahman, Bill Kengli Lin, Sofia Kyriazopoulou-Panagiotopoulou, Susanna Jett, Adrian Fehr, Haynes Heaton, Christopher J. O'Keefe, Deanna M. Church, Andrew D. Price, Shamoni Maheshwari, Brendan Galvin, Cassandra B. Jabara, Kamila Belhocine, Monkol Lek, Michael Schnall-Levin, Jorge Bernate

Publikováno v: Genome research. 29(4)

Large-scale population analyses coupled with advances in technology have demonstrated that the human genome is more diverse than originally thought. To date, this diversity has largely been uncovered using short-read whole-genome sequencing. However,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ac82353829897df4a141dd59feda77
https://pubmed.ncbi.nlm.nih.gov/30894395

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Autor: Mark J.P. Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J. Gardner, Oscar Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev N. Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex Hastie, Danny Antaki, Peter Audano, Harrison Brand, Stuart Cantsilieris, Han Cao, Eliza Cerveira, Chong Chen, Xintong Chen, Chen-Shan Chin, Zechen Chong, Nelson T. Chuang, Christine C. Lambert, Deanna M. Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur Galeev, David Gorkin, Madhusudan Gujral, Victor Guryev, William 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 Viaud-Martinez, Sascha Meiers, Katherine M. Munson, Fabio Navarro, Bradley J. Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy Pang, Yunjiang Qiu, Gabriel Rosanio, Mallory Ryan, Adrian 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 McCarroll, Goo Jun, Li Ding, Chong Lek Koh, Bing Ren, Paul Flicek, Ken Chen, Mark B. Gerstein, Pui-Yan Kwok, Peter M. Lansdorp, Gabor Marth, Jonathan Sebat, Xinghua Shi, Ali Bashir, Kai Ye, Scott E. Devine, Michael Talkowski, Ryan E. Mills, Tobias Marschall, Jan O. Korbel, Evan E. Eichler, Charles Lee

The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, and strand-specific sequencing technologi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d30b05e15c33d175f8668b30140faa26