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1دورية أكاديمية
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
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Neema P Mayor, James Robinson, Alasdair J M McWhinnie, Swati Ranade, Kevin Eng, William Midwinter, Will P Bultitude, Chen-Shan Chin, Brett Bowman, Patrick Marks, Henny Braund, J Alejandro Madrigal, Katy Latham, Steven G E Marsh
المصدر: PLoS ONE, Vol 10, Iss 5, p e0127153 (2015)
وصف الملف: electronic resource
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المؤلفون: Dmitry Meleshko, Rui Yang, Patrick Marks, Stephen Williams, Iman Hajirasouliha
المصدر: Nucleic Acids Research. 50:e108-e108
مصطلحات موضوعية: Base Sequence, Genome, Human, Genetics, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA, Algorithms
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6464f4e425f66c7eb80d87faf703ac
https://doi.org/10.1093/nar/gkac653 -
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المؤلفون: Charlotte A. Darby, Alvaro Martinez Barrio, Michael J. T. Stubbington, Ian T. Fiddes, Patrick Marks
المصدر: Bioinformatics
مصطلحات موضوعية: Statistics and Probability, Cell type, Cell, Antigen presentation, Gene Expression, Computational biology, Hla expression, Human leukocyte antigen, Biology, Major histocompatibility complex, medicine.disease_cause, Biochemistry, Workflow, 03 medical and health sciences, 0302 clinical medicine, Immune system, Genotype, Gene expression, medicine, Humans, Molecular Biology, Gene, Allele specific, Alleles, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Sequence Analysis, RNA, RNA, Applications Notes, Computer Science Applications, Computational Mathematics, medicine.anatomical_structure, Computational Theory and Mathematics, biology.protein, Single-Cell Analysis, 030217 neurology & neurosurgery, Software
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cb17ea0e834d9a5b7f62ae5293addab
https://pubmed.ncbi.nlm.nih.gov/32330223 -
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المؤلفون: Paul Flicek, Kai Ye, Diana C.J. Spierings, David U. Gorkin, Susan Fairley, Mark Chaisson, Shantao Li, Xinghua Shi, Ming Xiao, Jee Young Kwon, Danny Antaki, Patrick Marks, Anne Marie E. Welch, Qihui Zhu, Katherine M. Munson, Sau Peng Lee, Deanna M. Church, Pui-Yan Kwok, Han Cao, Goo Jun, Joey Flores, Sascha Meiers, Chong-Lek Koh, Jonathan Sebat, Thomas Anantharaman, Alistair Ward, Ryan L. Collins, Zechen Chong, Aaron M. Wenger, Chong Chen, Ali Bashir, Fabio C. P. Navarro, Wan-Ping Lee, Sergei Yakneen, Amina Noor, Sushant Kumar, Xiangmeng Kong, Chen-Shan Chin, Peter A. Audano, Peter M. Lansdorp, Scott E. Devine, Steven A. McCarroll, Dillon Lee, Gabriel Rosanio, Ernesto Lowy, Jan O. Korbel, Adrian M. Stütz, Ernest T. Lam, Victor Guryev, Madhusudan Gujral, Tobias Marschall, Li Guo, Oscar L. Rodriguez, Fereydoun Hormozdiari, Zev N. Kronenberg, Mallory Ryan, Bradley J. Nelson, Ankit Malhotra, Joyce V. Lee, Xian Fan, Nelson T. Chuang, Eugene J. Gardner, Timur R. Galeev, Robert E. Handsaker, David Porubsky, Jonas Korlach, Conor Nodzak, Laura Clarke, Tobias Rausch, Michael E. Talkowski, Chengsheng Zhang, Ryan E. Mills, Jong Eun Lee, Andy Wing Chun Pang, Andrew Farrell, Li Ding, Mark Gerstein, Yunjiang Qiu, Sofia Kyriazopoulou-Panagiotopoulou, Karine A. Viaud-Martinez, Xiangqun Zheng-Bradley, Stuart Cantsilieris, Bing Ren, Christine C. Lambert, Xintong Chen, Xuefang Zhao, Ken Chen, Ashley D. Sanders, Charles Lee, William Haynes Heaton, Evan E. Eichler, Gabor T. Marth, Jia Wen, Wei Xu, Alex Hastie, Eliza Cerveira, Harrison Brand
المساهمون: Groningen Research Institute for Asthma and COPD (GRIAC), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Stem Cell Aging Leukemia and Lymphoma (SALL)
المصدر: Nature communications, vol 10, iss 1
Nature Communications
Nature Communications, 10(1):1784. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Science, General Physics and Astronomy, Genomics, 02 engineering and technology, Computational biology, Human genetic variation, Biology, Genome, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, Structural variation, 03 medical and health sciences, Databases, Genetic, INDEL Mutation, Databases, Genetic, Genetics, Humans, 2.1 Biological and endogenous factors, 1000 Genomes Project, Aetiology, lcsh:Science, Whole genome sequencing, Multidisciplinary, Whole Genome Sequencing, Genome, Human, Human Genome, Chromosome Mapping, High-Throughput Nucleotide Sequencing, General Chemistry, 021001 nanoscience & nanotechnology, 030104 developmental biology, Haplotypes, Genomic Structural Variation, lcsh:Q, Human genome, Generic health relevance, 0210 nano-technology, human activities, Algorithms, Human, Biotechnology
وصف الملف: application/pdf
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مصطلحات موضوعية: 0303 health sciences, Computer science, Sequence assembly, Genomics, Computational biology, Genome, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Human genome, Ploidy, International HapMap Project, 030217 neurology & neurosurgery, 030304 developmental biology, Reference genome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc94f2e8ae9038769e51052be2147864
https://doi.org/10.1101/551028 -
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المؤلفون: Pui-Yan Kwok, Kristina Giorda, Alex Hastie, Patrick Marks, Jeffrey D. Wall, Jessica Lam, Catherine Chu, Joyce Lee, Michal Levy-Sakin, Yulia Mostovoy, Ernest T. Lam, Chin Lin, Michael Schnall-Levin, Stephen A. Schlebusch, Han Cao, Željko Džakula
المصدر: Nature methods
مصطلحات موضوعية: 0301 basic medicine, Cancer genome sequencing, Hybrid genome assembly, Genomics, Computational biology, Biology, ENCODE, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, Humans, Molecular Biology, Genetics, Shotgun sequencing, Genome, Human, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Cell Biology, Genome project, 030104 developmental biology, Haplotypes, 030217 neurology & neurosurgery, Biotechnology, Personal genomics, Reference genome
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المؤلفون: Francesca Meschi, Indira Wu, David Stafford, Andrew Wei Xu, Heather Ordonez, Jill Herschleb, Esty Holt, Tony Makarewicz, Shazia Mahamdallie, Elise Ruark, Josh Delaney, Adam Lowe, Pranav Patel, Stephen R. Williams, Christopher Hindson, Sarah T. Garcia, Nikka Keivanfar, Alvaro Martinez Barrio, Ian T. Fiddes, Keith Bjornson, Sheila Seal, Preyas Shah, Ariel Royall, Claudia Catalanotti, Patrick Marks, Jamie L. Marshall, Daniel G. MacArthur, Rajiv Bharadwaj, Nazneen Rahman, Bill Kengli Lin, Sofia Kyriazopoulou-Panagiotopoulou, Susanna Jett, Adrian Fehr, Haynes Heaton, Christopher J. O'Keefe, Deanna M. Church, Andrew D. Price, Shamoni Maheshwari, Brendan Galvin, Cassandra B. Jabara, Kamila Belhocine, Monkol Lek, Michael Schnall-Levin, Jorge Bernate
المصدر: Genome research. 29(4)
مصطلحات موضوعية: Population, Method, Computational biology, Biology, Genome, Data type, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, education, Gene, Genetics (clinical), 030304 developmental biology, Sequence (medicine), 0303 health sciences, education.field_of_study, Polymorphism, Genetic, Whole Genome Sequencing, Genome, Human, Haplotype, Membrane Proteins, Survival of Motor Neuron 1 Protein, Survival of Motor Neuron 2 Protein, Intercellular Signaling Peptides and Proteins, Human genome, 030217 neurology & neurosurgery, STRC, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ac82353829897df4a141dd59feda77
https://pubmed.ncbi.nlm.nih.gov/30894395 -
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المؤلفون: Patrick Marks, Sarah Garcia, Alvaro Martinez Barrio, Kamila Belhocine, Jorge Bernate, Rajiv Bharadwaj, Keith Bjornson, Claudia Catalanotti, Josh Delaney, Adrian Fehr, Ian T. Fiddes, Brendan Galvin, Haynes Heaton, Jill Herschleb, Christopher Hindson, Esty Holt, Cassandra B. Jabara, Susanna Jett, Nikka Keivanfar, Sofia Kyriazopoulou-Panagiotopoulou, Monkol Lek, Bill Lin, Adam Lowe, Shazia Mahamdallie, Shamoni Maheshwari, Tony Makarewicz, Jamie Marshall, Francesca Meschi, Chris O’keefe, Heather Ordonez, Pranav Patel, Andrew Price, Ariel Royall, Elise Ruark, Sheila Seal, Michael Schnall-Levin, Preyas Shah, Stephen Williams, Indira Wu, Andrew Wei Xu, Nazneen Rahman, Daniel MacArthur, Deanna M. Church
مصطلحات موضوعية: 0303 health sciences, Computer science, Haplotype, Sequence assembly, Genomics, Computational biology, Genome, 03 medical and health sciences, chemistry.chemical_compound, Exon, 0302 clinical medicine, chemistry, Human genome, Ploidy, Gene, 030217 neurology & neurosurgery, Exome sequencing, DNA, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57d0453a799d81bfca88092832de0b65
https://doi.org/10.1101/230946 -
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المؤلفون: Deanna M. Church, Patrick Marks, Stafford D, Sarah Garcia, Jill Herschleb, Stephen R. Williams, Andrew Wei Xu
مصطلحات موضوعية: chemistry.chemical_classification, Computer science, Chromosome, Structural variant, Genomics, Karyotype, Computational biology, Genome, Deep sequencing, DNA sequencing, chemistry.chemical_compound, chemistry, Nucleotide, DNA, Sequence (medicine)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e461b99466b2ef00936fbeb2988f35f
https://doi.org/10.1101/231662