المؤلفون: 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

المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Genomic structural variation, Inversion, Pathogenic copy number variant, T2T-CHM13, Pericentromeric, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1474-760XTest

الوصول الحر: https://doaj.org/article/255e9b3d13f44bcfa4cd688e4f4d79baTest

المؤلفون: 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

المصدر: Genomics, Proteomics & Bioinformatics, Vol 20, Iss 1, Pp 205-218 (2022)

مصطلحات موضوعية: Next-generation sequencing, Complex structural variant, Pattern growth, Graph mining, Formation mechanism, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1672022921001431Test; https://doaj.org/toc/1672-0229Test

الوصول الحر: https://doaj.org/article/513b1cf5af894e5190b4427f8d55b1a7Test

المؤلفون: 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

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

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/1bf8e1b79b09479e9b177f1082c620e1Test

المؤلفون: David Porubsky, Shilpa Garg, Ashley D. Sanders, Jan O. Korbel, Victor Guryev, Peter M. Lansdorp, Tobias Marschall

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/db0127d509434bd2b9aa41d8de8838bcTest

المؤلفون: Mark Hills, Ester Falconer, Kieran O’Neill, Ashley D. Sanders, Kerstin Howe, Victor Guryev, Peter M. Lansdorp

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 7, p 3617 (2021)

مصطلحات موضوعية: genome assembly, Strand-seq, genome scaffolds, contig assembly, reference genomes, ferret, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/22/7/3617Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/28ee1a653e7244528489c6ee5af80618Test

المؤلفون: Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, Shuangjia Lu, Julian K. Lucas, Jean Monlong, Haley J. Abel, Silvia Buonaiuto, Xian H. Chang, Haoyu Cheng, Justin Chu, Vincenza Colonna, Jordan M. Eizenga, Xiaowen Feng, Christian Fischer, Robert S. Fulton, Shilpa Garg, Cristian Groza, Andrea Guarracino, William T. Harvey, Simon Heumos, Kerstin Howe, Miten Jain, Tsung-Yu Lu, Charles Markello, Fergal J. Martin, Matthew W. Mitchell, Katherine M. Munson, Moses Njagi Mwaniki, Adam M. Novak, Hugh E. Olsen, Trevor Pesout, David Porubsky, Pjotr Prins, Jonas A. Sibbesen, Jouni Sirén, Chad Tomlinson, Flavia Villani, Mitchell R. Vollger, Lucinda L. Antonacci-Fulton, Gunjan Baid, Carl A. Baker, Anastasiya Belyaeva, Konstantinos Billis, Andrew Carroll, Pi-Chuan Chang, Sarah Cody, Daniel E. Cook, Robert M. Cook-Deegan, Omar E. Cornejo, Mark Diekhans, Peter Ebert, Susan Fairley, Olivier Fedrigo, Adam L. Felsenfeld, Giulio Formenti, Adam Frankish, Yan Gao, Nanibaa’ A. Garrison, Carlos Garcia Giron, Richard E. Green, Leanne Haggerty, Kendra Hoekzema, Thibaut Hourlier, Hanlee P. Ji, Eimear E. Kenny, Barbara A. Koenig, Alexey Kolesnikov, Jan O. Korbel, Jennifer Kordosky, Sergey Koren, HoJoon Lee, Alexandra P. Lewis, Hugo Magalhães, Santiago Marco-Sola, Pierre Marijon, Ann McCartney, Jennifer McDaniel, Jacquelyn Mountcastle, Maria Nattestad, Sergey Nurk, Nathan D. Olson, Alice B. Popejoy, Daniela Puiu, Mikko Rautiainen, Allison A. Regier, Arang Rhie, Samuel Sacco, Ashley D. Sanders, Valerie A. Schneider, Baergen I. Schultz, Kishwar Shafin, Michael W. Smith, Heidi J. Sofia, Ahmad N. Abou Tayoun, Françoise Thibaud-Nissen, Francesca Floriana Tricomi, Justin Wagner, Brian Walenz, Jonathan M. D. Wood, Aleksey V. Zimin, Guillaume Bourque, Mark J. P. Chaisson, Paul Flicek, Adam M. Phillippy, Justin M. Zook, Evan E. Eichler, David Haussler, Ting Wang, Erich D. Jarvis, Karen H. Miga, Erik Garrison, Tobias Marschall, Ira M. Hall, Heng Li, Benedict Paten

المصدر: Nature. 617:312-324

مصطلحات موضوعية: Cancer Research, Multidisciplinary

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce56c54eebc15371aabecb5595f996d0Test
https://doi.org/10.1038/s41586-023-05896-xTest

المؤلفون: Aino-Maija Leppä, Karen Grimes, Hyobin Jeong, Tobias Boch, Darja Karpova, Florian Grünschläger, Anna Jauch, Anna Dolnik, Bernardo Rodriguez-Martin, Lars Bullinger, Alwin Krämer, Ashley D Sanders, Jan O Korbel, Andreas Trumpp

المصدر: Blood. 140:9170-9172

مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ed4cfde988d0a1a616092db92a9899a4Test
https://doi.org/10.1182/blood-2022-166007Test

المؤلفون: Gilles Salles, Randy D. Gascoyne, Christian Steidl, Laurie H. Sehn, Joseph M. Connors, Corinne Haioun, Andrew I. Minchinton, Graham W. Slack, Bettina Fabiani, Ashley D. Sanders, David W. Scott, Alastair H. Kyle, Elizabeth A. Chavez, Pauline Brice, Alden A. Moccia, Sami Boussetta, Pedro Farinha, Danielle Canioni, Ayesha Vawda, Pierre Feugier, King Tan, Bénédicte Gelas-Dore, Luc Xerri, Robert Kridel

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6497c804902cd415bbd83ecf07116facTest
https://doi.org/10.1158/1078-0432.22454513.v1Test

المؤلفون: Michelle D. Noyes, William T. Harvey, David Porubsky, 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

المصدر: American Journal of Human Genetics, 109, 631-646
American Journal of Human Genetics, 109, 4, pp. 631-646
Am J Hum Genet

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Nucleotides, Mutation, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Genetics, High-Throughput Nucleotide Sequencing, Humans, Female, Genomics, Sequence Analysis, DNA, Software, Article, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bd9c7a2c56450a8a67447f01159d4aTest
https://doi.org/10.1016/j.ajhg.2022.02.014Test

المؤلفون: Ashley D. Sanders, Vladimir Benes, Alberto Magi, Davide Bolognini, Jan O. Korbel, Tobias Rausch

مصطلحات موضوعية: H2020, EC, European Research Council, Consolidator Grant, European Commission, Computational Mathematics, Computational Theory and Mathematics, Computer Science Applications, Molecular Biology, Biochemistry, Statistics and Probability, ERC

العلاقة: info:eu-repo/grantAgreement/EC/H2020/773026/; url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/100859Test

الإتاحة: https://doi.org/10.1093/bioinformatics/btz719Test
https://www.openaccessrepository.it/record/100859Test