Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Wolfram Höps"'
Autor:
David Porubsky, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Human Pangenome Reference Consortium (HPRC), Human Genome Structural Variation Consortium (HGSVC), Benedict Paten, Ashley D. Sanders, Tobias Marschall, Jan O. Korbel, Evan E. Eichler
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-16 (2023)
Abstract The telomere-to-telomere (T2T) complete human reference has significantly improved our ability to characterize genome structural variation. To understand its impact on inversion polymorphisms, we remapped data from 41 genomes against the T2T
Externí odkaz:
https://doaj.org/article/255e9b3d13f44bcfa4cd688e4f4d79ba
Autor:
Fawaz Dabbaghie, Divya Kalra, Elbay Aliyev, Wouter De Coster, Kimberley Billingsley, Nicolae Sapoval, Shangzhe Zhang, Gaojianyong Wang, Kimberly Walker, Deepak Choubey, Li Chuin Chong, Alejandro R. Gener, Yilei Fu, Pavel Avdeyev, Ben Busby, Daniel Paiva Agustinho, Sairam Behera, Enrico R. Barrozo, Luis F Paulin, Ahmad Al Khleifat, Susanne P. Pfeifer, Muhammad Sohail Raza, Guangyi Chen, Rebecca Lowdon, Daniela C. Soto, David Molik, Anneri Lötter, Chunhsuan Lo, Suresh Kumar Mendem, Sina Majidian, Damaris Lattimer, Priya Lakra, Bai-Wei Lo, Chia-Sin Liew, Rupesh K. Kesharwani, Maria Jose, Jędrzej Kubica, Sree Rohit Raj Kolora, Wolfram Höps, David Morgan Henke, Michael D. Jochum, Anastasia Illarionova, Fritz J Sedlazeck, Weiyu Zhou, Todd Treangen, Philippe Sanio, Jianzhi Yang, Tiancheng Xu, Ramanandan Prabhakaran, Chi-Lam Poon, Aditi Sammi, Marie Saitou, Hiroko Ohmiya, Rajarshi Mondal, Najeeb Syed, Carolina Peralta, Nasrin Parvin, Timothy Hefferon, Medhat Mahmoud
Publikováno v:
F1000Research, Vol 11 (2022)
In October 2021, 59 scientists from 14 countries and 13 U.S. states collaborated virtually in the Third Annual Baylor College of Medicine & DNANexus Structural Variation hackathon. The goal of the hackathon was to advance research on structural varia
Externí odkaz:
https://doaj.org/article/d8c7d88e226245f696a211630add1947
Publikováno v:
F1000Research, Vol 7 (2018)
We now have access to the sequences of tens of millions of proteins. These protein sequences are essential for modern molecular biology and computational biology. The vast majority of protein sequences are derived from gene prediction tools and have
Externí odkaz:
https://doaj.org/article/bef8909f82fb435da7c9992f70bd5d74
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Autor:
David Porubsky, Wolfram Höps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T. Harvey, Barbara Henning, Peter A. Audano, David S. 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
Publikováno v:
Cell
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation class. By integrating multiple genomic technologies, we discover 729 inversions in 41 human genomes. Approximately 85% of inversions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9822b7768575c49cfea2aea8b15cd5a8
http://edoc.mdc-berlin.de/21606/1/21606oa.pdf
http://edoc.mdc-berlin.de/21606/1/21606oa.pdf
Autor:
Zepeng Mu, Jana Ebler, PingHsun Hsieh, Kai Ye, Marta Byrska-Bishop, William T. Harvey, Mark Gerstein, Chong Li, Bernardo Rodriguez-Martin, Tobias Rausch, Michael E. Talkowski, Rebecca Serra Mari, Allison Regier, Xinghua Shi, Arvis Sulovari, Weichen Zhou, Martin Santamarina, Hufsah Ashraf, Oliver Stegle, Scott E. Devine, Yu Chen, Xuefang Zhao, Jiadong Lin, Susan Fairley, Mark Chaisson, Wolfram Höps, Alexandra P. Lewis, Ira M. Hall, Benjamin Raeder, Feyza Yilmaz, Wayne E. Clarke, Aaron M. Wenger, Qihui Zhu, Xiaofei Yang, Ashley D. Sanders, Marc Jan Bonder, Junjie Chen, Maryam Ghareghani, Katherine M. Munson, Luke J. Tallon, Evan E. Eichler, Alex Hastie, Paul Flicek, Jose M. C. Tubio, Jan O. Korbel, Peter A. Audano, Jingwen Ren, Peter Ebert, Tobias Marschall, Nelson T. Chuang, David Porubsky, Anna O. Basile, Joyce V. Lee, Yang I. Li, Harrison Brand, André Corvelo, Michael C. Zody, Patrick Hasenfeld, Ryan E. Mills, Charles Lee, Zechen Chong, Haley J. Abel, Sushant Kumar
Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent–child trio data. We present 64 assembled haplotypes from 32 diverse human genomes. These
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc0b557d21456d6ebdcdea2f2663403f
https://doi.org/10.1101/2020.12.16.423102
https://doi.org/10.1101/2020.12.16.423102
Autor:
Tsung Yu Lu, Rebecca Serra Mari, Joyce V. Lee, Peter A. Audano, Susan Fairley, Mark Chaisson, Scott E. Devine, Ira M. Hall, Maryam Ghareghani, Sushant Kumar, Aaron M. Wenger, Jan O. Korbel, Hufsah Ashraf, Feyza Yilmaz, Tobias Marschall, Jana Ebler, Zechen Chong, Wolfram Höps, Paul Flicek, Kai Ye, Haley J. Abel, Katherine M. Munson, Jiadong Lin, Qihui Zhu, Weichen Zhou, Xiaofei Yang, Wayne E. Clarke, Michael C. Zody, Uday S. Evani, Xinghua Shi, Patrick Hasenfeld, Martin Santamarina, Bernardo Rodriguez-Martin, Tobias Rausch, Michael E. Talkowski, Jose M. C. Tubio, Luke J. Tallon, Yang I. Li, Yu Chen, Junjie Chen, André Corvelo, Zepeng Mu, PingHsun Hsieh, David Porubsky, Nelson T. Chuang, William T. Harvey, Alexandra P. Lewis, Marc Jan Bonder, Oliver Stegle, Benjamin Raeder, Xuefang Zhao, Alex Hastie, Harrison Brand, Allison A. Regier, Peter Ebert, Ryan E. Mills, Anna O. Basile, Marta Byrska-Bishop, Mark Gerstein, Chong Li, Arvis Sulovari, Jingwen Ren, Ashley D. Sanders, Charles Lee, Evan E. Eichler
Publikováno v:
Science
Resolving genomic structural variationMany human genomes have been reported using short-read technology, but it is difficult to resolve structural variants (SVs) using these data. These genomes thus lack comprehensive comparisons among individuals an
Autor:
Shwetha C. Murali, Melanie Sorensen, Wolfram Höps, David Porubsky, David Gordon, Alex A. Pollen, Jan O. Korbel, Tobias Marschall, Ashley D. Sanders, Evan E. Eichler, PingHsun Hsieh, Francesca Antonacci, Arvis Sulovari, Stuart Cantsilieris, Ludovica Mercuri, Ruiyang Li, Mario Ventura
Publikováno v:
Nature Genetics
Nature genetics, vol 52, iss 8
Nature genetics
Nature genetics, vol 52, iss 8
Nature genetics
Inversions play an important role in disease and evolution but are difficult to characterize because their breakpoints map to large repeats. We increased by sixfold the number (n = 1,069) of previously reported great ape inversions by using single-ce