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1دورية أكاديمية
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
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المؤلفون: Hyobin Jeong, Karen Grimes, Kerstin K. Rauwolf, Peter-Martin Bruch, Tobias Rausch, Patrick Hasenfeld, Eva Benito, Tobias Roider, Radhakrishnan Sabarinathan, David Porubsky, Sophie A. Herbst, Büşra Erarslan-Uysal, Johann-Christoph Jann, Tobias Marschall, Daniel Nowak, Jean-Pierre Bourquin, Andreas E. Kulozik, Sascha Dietrich, Beat Bornhauser, Ashley D. Sanders, Jan O. Korbel
المساهمون: University of Zurich, Sanders, Ashley D, Korbel, Jan O
المصدر: Nature Biotechnology
مصطلحات موضوعية: Cancer Research, 1502 Bioengineering, 10036 Medical Clinic, 1313 Molecular Medicine, 1305 Biotechnology, Biomedical Engineering, 2204 Biomedical Engineering, 2402 Applied Microbiology and Biotechnology, Molecular Medicine, 610 Medicine & health, Bioengineering, Applied Microbiology and Biotechnology, Biotechnology
وصف الملف: s41587_022_01551_4.pdf - application/pdf; 64933_2_merged_1665155414.pdf - application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c78924ff5606b79f22a9ef6ef8afb604Test
https://doi.org/10.1038/s41587-022-01551-4Test -
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المؤلفون: Evan E. Eichler, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Benedict Paten, Ashley D. Sanders, Tobias Marschall, Jan O. Korbel
العلاقة: https://zenodo.org/record/7742689Test; https://doi.org/10.5281/zenodo.7742689Test; oai:zenodo.org:7742689
الإتاحة: https://doi.org/10.5281/zenodo.7742689Test
https://doi.org/10.5281/zenodo.7563417Test
https://zenodo.org/record/7742689Test -
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المؤلفون: Ludovica Mercuri, Donato Palmisano, Alberto L'Abbate, Pietro D'Addabbo, Francesco Montinaro, Claudia Rita Catacchio, Patrick Hasenfeld, Mario Ventura, Jan O. Korbel, Ashley D. Sanders, Flavia Angela Maria Maggiolini, Francesca Antonacci
مصطلحات موضوعية: Primates, Cancer Research, Genome, Chromosome Inversion, Genetics, Animals, Hylobates, Hominidae, Chromosomes, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35fb20e962957425808d320dad836493Test
http://edoc.mdc-berlin.de/22138/1/22138oa.pdfTest -
5Recurrent 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: Evan E. Eichler, Mitchell R. Vollger, William T. Harvey, Allison N. Rozanski, Peter Ebert, Glenn Hickey, Patrick Hasenfeld, Ashley D. Sanders, Catherine Stober, Jan O. Korbel, Benedict Paten, Tobias Marschall
العلاقة: https://zenodo.org/record/6762544Test; https://doi.org/10.5281/zenodo.6762544Test; oai:zenodo.org:6762544
الإتاحة: https://doi.org/10.5281/zenodo.6762544Test
https://doi.org/10.5281/zenodo.6762543Test
https://zenodo.org/record/6762544Test -
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المؤلفون: Daniel Nowak, Beat Bornhauser, Tobias Rausch, Karen Grimes, Patrick Hasenfeld, Johann-Christoph Jann, Radhakrishnan Sabarinathan, Jan O. Korbel, Peter-Martin Bruch, Tobias Marschall, Sophie A. Herbst, Hyobin Jeong, Jean-Pierre Bourquin, David Porubsky, Sascha Dietrich, Büşra Erarslan-Uysal, Ashley D. Sanders, Andreas E. Kulozik
المصدر: bioRxiv
مصطلحات موضوعية: Structural variation, Somatic cell, Breakpoint, Haplotype, medicine, Wnt signaling pathway, Computational biology, Biology, Carcinogenesis, medicine.disease_cause, Transcription factor, Genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe3860b65fb7014c354a8f2febe143cTest
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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