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1دورية أكاديمية
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
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2دورية أكاديمية
المؤلفون: PingHsun Hsieh, Vy Dang, Mitchell R. Vollger, Yafei Mao, Tzu-Hsueh Huang, Philip C. Dishuck, Carl Baker, Stuart Cantsilieris, Alexandra P. Lewis, Katherine M. Munson, Melanie Sorensen, AnneMarie E. Welch, Jason G. Underwood, Evan E. Eichler
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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3دورية أكاديمية
المؤلفون: Stuart Cantsilieris, Susan M. Sunkin, Matthew E. Johnson, Fabio Anaclerio, John Huddleston, Carl Baker, Max L. Dougherty, Jason G. Underwood, Arvis Sulovari, PingHsun Hsieh, Yafei Mao, Claudia Rita Catacchio, Maika Malig, AnneMarie E. Welch, Melanie Sorensen, Katherine M. Munson, Weihong Jiang, Santhosh Girirajan, Mario Ventura, Bruce T. Lamb, Ronald A. Conlon, Evan E. Eichler
المصدر: Genome Biology, Vol 21, Iss 1, Pp 1-35 (2020)
مصطلحات موضوعية: Segmental duplication, Nuclear pore interacting protein, LCR16a, Gene fusion, Genomic instability, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13059-020-02074-4Test; https://doaj.org/toc/1474-760XTest
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4
المؤلفون: Raquel Garza, Diahann Atacho, Anita Adami, Patricia Gerdes, Meghna Vinod, PingHsun Hsieh, Ofelia Karlsson, Vivien Horvath, Pia A. Johansson, Ninoslav Pandiloski, Jon Matas, Annelies Quaegebeur, Antonina Kouli, Yogita Sharma, Marie E Jönsson, Emanuela Monni, Elisabet Englund, Evan E. Eichler, Molly Hammell, Roger A. Barker, Zaal Kokaia, Christopher H. Douse, Johan Jakobsson
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ddf321c7e79d7591ab8ac4d4ec1f47a3Test
https://doi.org/10.1101/2023.03.04.531072Test -
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المؤلفون: Melanie Sorensen, Yafei Mao, Sofie R. Salama, Claudia Rita Catacchio, Andy Wing Chun Pang, Françoise Thibaud-Nissen, Carl Baker, LaDeana W. Hillier, Ruiyang Li, Arvis Sulovari, Philip C. Dishuck, PingHsun Hsieh, Katherine M. Munson, Ludovica Mercuri, Jason D Fernandes, Jessica M. Storer, Joyce V. Lee, Benedict Paten, Mark A. Batzer, Peter A. Audano, David Porubsky, Tzu-Hsueh Huang, Jason G. Underwood, Evan E. Eichler, Jinna Hoffman, William T. Harvey, Kendra Hoekzema, Jerilyn A. Walker, Ian T. Fiddes, David Gordon, Marina Haukness, Alex Hastie, Alexandra P. Lewis, Francesca Antonacci, Mario Ventura, Shwetha C. Murali, Francesco Montinaro, Ilaria Piccolo, Mark Diekhans
المصدر: Nature
مصطلحات موضوعية: Pan troglodytes, Sequence assembly, Genomics, Biology, Genome informatics, Genome, Article, Evolutionary genetics, Coalescent theory, Evolution, Molecular, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Animals, Sequencing, Phylogeny, 030304 developmental biology, Segmental duplication, 0303 health sciences, Gorilla gorilla, Multidisciplinary, Bonobo, Pongo, Molecular Sequence Annotation, Sequence Analysis, DNA, Pan paniscus, biology.organism_classification, Genome evolution, Genes, Evolutionary biology, Eukaryotic Initiation Factor-4A, Female, Human genome, Mobile genetic elements, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c85371fc3bdca9e475023b689b3d53Test
https://doi.org/10.1038/s41586-021-03519-xTest -
6Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
المؤلفون: 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
المصدر: Cell
مصطلحات موضوعية: Cancer Research, Segmental Duplications, Genomic, DNA Copy Number Variations, Genome, Human, Chromosome Inversion, Humans, Genomics, Article, General Biochemistry, Genetics and Molecular Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9822b7768575c49cfea2aea8b15cd5a8Test
http://edoc.mdc-berlin.de/21606/1/21606oa.pdfTest -
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المؤلفون: Mitchell R. Vollger, Katherine M. Munson, Philip C. Dishuck, Vy Dang, Yafei Mao, PingHsun Hsieh, Tzu-Hsueh Huang, Melanie Sorensen, Alexandra P. Lewis, Carl Baker, AnneMarie E. Welch, Stuart Cantsilieris, Jason G. Underwood, Evan E. Eichler
المصدر: Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)مصطلحات موضوعية: DNA Copy Number Variations, Science, General Physics and Astronomy, Locus (genetics), Evolutionary biology, Biology, Genome informatics, Genome, General Biochemistry, Genetics and Molecular Biology, Haplogroup, Article, Evolution, Molecular, Gene Duplication, Gene duplication, Animals, Humans, Copy-number variation, Selection, Genetic, Phylogeny, Segmental duplication, Neanderthals, Multidisciplinary, Genome, Human, Haplotype, Membrane Proteins, Hominidae, General Chemistry, Haplotypes, Homo sapiens
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42982ca0ad731f52d7f3ee1d1c31af1eTest
http://europepmc.org/articles/PMC8387397Test -
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المؤلفون: 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
مصطلحات موضوعية: Structural variation, education.field_of_study, Contig, Population, Haplotype, Expression quantitative trait loci, Sequence assembly, Human genome, Computational biology, Biology, education, Genotyping
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dc0b557d21456d6ebdcdea2f2663403fTest
https://doi.org/10.1101/2020.12.16.423102Test -
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المؤلفون: 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
المصدر: Science
مصطلحات موضوعية: Male, Genotype, Retroelements, Population, Quantitative Trait Loci, Sequence assembly, Computational biology, Biology, Genome, Article, Structural variation, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, Population Groups, Humans, education, 030304 developmental biology, Whole genome sequencing, 0303 health sciences, education.field_of_study, Multidisciplinary, Contig, Whole Genome Sequencing, Genome, Human, Sequence Inversion, Genetic Variation, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Interspersed Repetitive Sequences, Haplotypes, Expression quantitative trait loci, Human genome, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae368c712ded1d7cb88a3aa16db254bTest
https://pubmed.ncbi.nlm.nih.gov/33963350Test -
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المؤلفون: Alexandra P. Lewis, PingHsun Hsieh, Jason G. Underwood, Yafei Mao, AnneMarie E. Welch, Mitchell R. Vollger, Tzu-Hsueh Huang, Vy Dang, Carl Baker, Stuart Cantsilieris, Katherine M. Munson, Philip C. Dishuck, Evan E. Eichler, Melanie Scofield
مصطلحات موضوعية: Evolutionary biology, Biology, Human specific, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::69a011de183c5221ac06de6d61b7960cTest
https://doi.org/10.21203/rs.3.rs-77798/v1Test