Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Scott E Devine"'
Autor:
Jiadong Lin, Xiaofei Yang, Walter Kosters, Tun Xu, Yanyan Jia, Songbo Wang, Qihui Zhu, Mallory Ryan, Li Guo, Chengsheng Zhang, Charles Lee, Scott E. Devine, Evan E. Eichler, Kai Ye, Mark B. Gerstein, Ashley D. Sanders, Micheal C. Zody, Michael E. Talkowski, Ryan E. Mills, Jan O. Korbel, Tobias Marschall, Peter Ebert, Peter A. Audano, Bernardo Rodriguez-Martin, David Porubsky, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, Tobias Rausch, Yu Chen, Zechen Chong, Katherine M. Munson, Mark J.P. Chaisson, Junjie Chen, Xinghua Shi, Aaron M. Wenger, William T. Harvey, Patrick Hansenfeld, Allison Regier, Ira M. Hall, Paul Flicek, Alex R. Hastie, Susan Fairely
Publikováno v:
Genomics, Proteomics & Bioinformatics, Vol 20, Iss 1, Pp 205-218 (2022)
Complex structural variants (CSVs) are genomic alterations that have more than two breakpoints and are considered as the simultaneous occurrence of simple structural variants. However, detecting the compounded mutational signals of CSVs is challengin
Externí odkaz:
https://doaj.org/article/513b1cf5af894e5190b4427f8d55b1a7
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
Autor:
Diane M. Terry, Scott E. Devine
Publikováno v:
Frontiers in Genetics, Vol 10 (2020)
Retrotransposable elements (RTEs) have actively multiplied over the past 80 million years of primate evolution, and as a consequence, such elements collectively occupy ∼ 40% of the human genome. As RTE activity can have detrimental effects on the h
Externí odkaz:
https://doaj.org/article/6a51cf6067864a45b0ce9caa08a9b267
Autor:
Nina P. Connolly, Amol C. Shetty, Jesse A. Stokum, Ina Hoeschele, Marni B. Siegel, C. Ryan Miller, Anthony J. Kim, Cheng-Ying Ho, Eduardo Davila, J. Marc Simard, Scott E. Devine, John H. Rossmeisl, Eric C. Holland, Jeffrey A. Winkles, Graeme F. Woodworth
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
Abstract Glioma is a unique neoplastic disease that develops exclusively in the central nervous system (CNS) and rarely metastasizes to other tissues. This feature strongly implicates the tumor-host CNS microenvironment in gliomagenesis and tumor pro
Externí odkaz:
https://doaj.org/article/f2d89c7796d7442691323a555b449266
Autor:
Diane M. Terry, Scott E. Devine, Charles C. Hong, Nelson T. Chuang, Anup Mahurkar, James A. Perry, Guillermo L Rivell, Jonathan Crabtree, Eugene J. Gardner
Publikováno v:
Genome Research. 31:2225-2235
Several large-scale Illumina whole-genome sequencing (WGS) and whole-exome sequencing (WES) projects have emerged recently that have provided exceptional opportunities to discover mobile element insertions (MEIs) and study the impact of these MEIs on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aa3e3f830dea55354705550077e0d66
https://doi.org/10.1101/gr.275323.121
https://doi.org/10.1101/gr.275323.121
Autor:
Yukyung Jun, Evan E. Eichler, Scott E. Devine, Ben Weisburd, Harrison Brand, Jack Fu, Ryan L. Collins, Jan O. Korbel, Harold Z. Wang, Tobias Marschall, Michael E. Talkowski, Wan-Ping Lee, Mark Chaisson, Peter A. Audano, Ryan E. Mills, Qihui Zhu, Charles Lee, Alexandra M Weber, Mark Walker, Chelsea Lowther, Mark Gerstein, Xuefang Zhao, Yongqing Huang
Publikováno v:
Am J Hum Genet
Virtually all genome sequencing efforts in national biobanks, complex and Mendelian disease programs, and medical genetic initiatives are reliant upon short-read whole-genome sequencing (srWGS), which presents challenges for the detection of structur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ef94aebea841a46dec2e44cc40b347
https://doi.org/10.1016/j.ajhg.2021.03.014
https://doi.org/10.1016/j.ajhg.2021.03.014
Autor:
Alisha O. Soares, Jungbin A. Choi, Anjali Talasila, Benjamin Brophy, Scott E. Devine, Daria Ivenitsky, Loyal A. Goff, Sadik Karma, Haig H. Kazazian, Stephen J. Meltzer, Katsumi Yamaguchi
Publikováno v:
Proc Natl Acad Sci U S A
Somatic LINE-1 (L1) retrotransposition has been detected in early embryos, adult brains, and the gastrointestinal (GI) tract, and many cancers, including epithelial GI tumors. We previously found numerous somatic L1 insertions in paired normal and GI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efcf20497c9f0ef336b00deece49333d
https://doi.org/10.1073/pnas.2019450117
https://doi.org/10.1073/pnas.2019450117
Autor:
Marta Byrska-Bishop, Uday S. Evani, Xuefang Zhao, Anna O. Basile, Haley J. Abel, Allison A. Regier, André Corvelo, Wayne E. Clarke, Rajeeva Musunuri, Kshithija Nagulapalli, Susan Fairley, Alexi Runnels, Lara Winterkorn, Ernesto Lowy, null Paul Flicek, Soren 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 B. Gerstein, Ye Kai, Qihui Zhu, Feyza Yilmaz, Chunlin Xiao
Publikováno v:
Cell. 185(18)
The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome sequencing (WGS) data consented for public distribution without access or use restrictions. The final, phase 3 release of the 1kGP included 2,504 unrelated samples fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::203e1fedd3913a2e0a4a55d902827ed0
https://pubmed.ncbi.nlm.nih.gov/36055197
https://pubmed.ncbi.nlm.nih.gov/36055197
Autor:
Emma C. Scott, Scott E. Devine
Publikováno v:
Viruses, Vol 9, Iss 6, p 131 (2017)
The human LINE-1 (or L1) element is a non-LTR retrotransposon that is mobilized through an RNA intermediate by an L1-encoded reverse transcriptase and other L1-encoded proteins. L1 elements remain actively mobile today and continue to mutagenize huma
Externí odkaz:
https://doaj.org/article/0bad4c217b1f4c00934a5ec65b902714
Autor:
Qihui Zhu, Xiaofei Yang, Kai Ye, Jiadong Lin, Scott E. Devine, Yanyan Jia, Chengsheng Zhang, Charles Lee, Songbo Wang, Tun Xu, Evan E. Eichler, Li Guo, Mallory Ryan, Walter A. Kosters
Complex structural variants (CSVs) are genomic alterations that have more than two breakpoints and are considered as simultaneous occurrence of simple structural variants. However, detecting the compounded mutational signals of CSVs is challenging th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bce778350c6b021cd2875cb44e69a9c
https://doi.org/10.1101/2021.03.01.433465
https://doi.org/10.1101/2021.03.01.433465
