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المؤلفون: Peter Ebert, Peter A. Audano, Peter M. Lansdorp, Mark Chaisson, Maryam Ghareghani, Katherine M. Munson, Ashley D. Sanders, Charles Lee, Marina Haukness, Arvis Sulovari, Jana Ebler, Benedict Paten, Evan E. Eichler, Scott E. Devine, Jan O. Korbel, Melanie Sorensen, Tobias Marschall, William T. Harvey, David Porubsky, Mitchell R. Vollger, Pierre Marijon
المساهمون: Human Genome Structural Variation Consortium
المصدر: Nature Biotechnology
مصطلحات موضوعية: Parents, Cancer Research, Letter, Sequence analysis, Bioinformatics, 0206 medical engineering, Biomedical Engineering, Sequence assembly, Bioengineering, 02 engineering and technology, Computational biology, Biology, Genome informatics, Applied Microbiology and Biotechnology, Genome, Genomic analysis, 03 medical and health sciences, Sequencing, Humans, Indel, 030304 developmental biology, 0303 health sciences, Contig, Genome, Human, Haplotype, Puerto Rico, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Haplotypes, Molecular Medicine, Human genome, Nanopore sequencing, Single-Cell Analysis, 020602 bioinformatics, Algorithms, Biotechnology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664704a0641e287e772e1b3e41ea2b2c
http://edoc.mdc-berlin.de/19711/7/19711suppl.zip -
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dc0b557d21456d6ebdcdea2f2663403f
https://doi.org/10.1101/2020.12.16.423102 -
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae368c712ded1d7cb88a3aa16db254b
https://pubmed.ncbi.nlm.nih.gov/33963350 -
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المؤلفون: Katherine M. Munson, Mark Chaisson, Jan O. Korbel, Tobias Marschall, Scott E. Devine, Benedict Paten, Ashley D. Sanders, Charles Lee, Evan E. Eichler, William T. Harvey, Marina Haukness, Maryam Ghareghani, Mitchell R. Vollger, Melanie Sorensen, P. Ebert, David Porubsky, Peter A. Audano, Peter M. Lansdorp, Arvis Sulovari
مصطلحات موضوعية: 0303 health sciences, Contig, Haplotype, Sequence assembly, Computational biology, Biology, Genome, 03 medical and health sciences, 0302 clinical medicine, Consensus sequence, Human genome, Nanopore sequencing, Indel, 030217 neurology & neurosurgery, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::438393e952827894f32c182f859503b9
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المؤلفون: Vladimir Benes, Jean-Pierre Bourquin, Paulina Richter-Pechanska, Beat Bornhauser, Joachim B. Kunz, Tobias Rausch, Andreas E. Kulozik, Balca R. Mardin, Ashley D. Sanders, Benjamin Raeder, Martin Schrappe, Maryam Ghareghani, Venla Kinanen, M. Alexandra C. C. van Vliet, Silvia Jenni, Hyobin Jeong, Sascha Meiers, Jan O. Korbel, Tobias Marschall, Jürgen Zimmermann, David Porubsky
مصطلحات موضوعية: Cancer Research, 0303 health sciences, Somatic cell, Haplotype, Karyotype, Computational biology, Biology, Somatic evolution in cancer, Genome, Structural variation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, 030220 oncology & carcinogenesis, Coding strand, DNA, 030304 developmental biology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f147c8f889ee8b04ba017168506f36
https://doi.org/10.1101/849604 -
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المؤلفون: Jan O. Korbel, Maryam Ghareghani, Sascha Meiers, Ashley D. Sanders, Tobias Marschall, David Porubskỳ, Evan E. Eichler
المصدر: Bioinformatics
ISMB 2018 Proceedingsمصطلحات موضوعية: 0301 basic medicine, Statistics and Probability, Cancer Research, Computer science, Sequence analysis, Sequence assembly, Computational biology, Biochemistry, Genome, 03 medical and health sciences, Expectation–maximization algorithm, Chromosomes, Human, Humans, Computer Simulation, Molecular Biology, Ismb 2018–Intelligent Systems for Molecular Biology Proceedings, Genome, Human, Comparative and Functional Genomics, Chromosome, High-Throughput Nucleotide Sequencing, Genomics, Sequence Analysis, DNA, Computer Science Applications, Computational Mathematics, 030104 developmental biology, Computational Theory and Mathematics, Coding strand, Female, Mammalian genome, denovo, genome, assembly, long read, sequencing, Strand-seq, Algorithms, Software
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e9780c594816bb4866072a660a9e51e
https://hdl.handle.net/21.11116/0000-0001-E5AA-D21.11116/0000-0001-E5AC-B -
7Single-cell analysis of structural variations and complex rearrangements with tri-channel processing
المؤلفون: David Porubsky, Ashley D. Sanders, Martin Schrappe, Tobias Rausch, Jan O. Korbel, Beat Bornhauser, Joachim B. Kunz, Andreas E. Kulozik, Tobias Marschall, Benjamin Raeder, Davide Bolognini, Juergen Zimmermann, Balca R. Mardin, M. Alexandra C. C. van Vliet, Vladimir Benes, Hyobin Jeong, Maryam Ghareghani, Venla Kinanen, Jean-Pierre Bourquin, Paulina Richter-Pechanska, Sascha Meiers, Silvia Jenni, Gabriel M. C. Longo
المساهمون: University of Zurich, Korbel, Jan O
المصدر: Nature Biotechnology
Nat Biotechnolمصطلحات موضوعية: Somatic cell, Genomic Structural Variation, Biomedical Engineering, 2204 Biomedical Engineering, 610 Medicine & health, Bioengineering, Computational biology, Biology, Applied Microbiology and Biotechnology, Somatic evolution in cancer, Translocation, Genetic, Article, Cell Line, Clonal Evolution, Structural variation, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, Single-cell analysis, Humans, 2402 Applied Microbiology and Biotechnology, 030304 developmental biology, Gene Rearrangement, Chromothripsis, 0303 health sciences, Leukemia, 1502 Bioengineering, Sequence Inversion, Computational Biology, Karyotype, Gene rearrangement, 3. Good health, 10036 Medical Clinic, 1313 Molecular Medicine, 1305 Biotechnology, Molecular Medicine, Single-Cell Analysis, 030217 neurology & neurosurgery, Biotechnology
وصف الملف: s41587-019-0366-x.pdf - application/pdf; ZORA182325.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce3b7fcb7277706b2745924f126bb96