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

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

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

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

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

المؤلفون: Jan O. Korbel, Maryam Ghareghani, Sascha Meiers, Ashley D. Sanders, Tobias Marschall, David Porubskỳ, Evan E. Eichler

المصدر: Bioinformatics
ISMB 2018 Proceedings

مصطلحات 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

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 Biotechnol

مصطلحات 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