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1Academic Journal
المؤلفون: Weiss, Simone, Lamy, Philippe, Rusan, Maria, Nørgaard, Maibritt, Ulhøi, Benedicte Parm, Knudsen, Michael, Kassentoft, Christine Gaasdal, Farajzadeh, Leila, Jensen, Jørgen Bjerggaard, Pedersen, Jakob Skou, Borre, Michael, Sørensen, Karina Dalsgaard
المصدر: Weiss , S , Lamy , P , Rusan , M , Nørgaard , M , Ulhøi , B P , Knudsen , M , Kassentoft , C G , Farajzadeh , L , Jensen , J B , Pedersen , J S , Borre , M & Sørensen , K D 2024 , ' Exploring the tumor genomic landscape of aggressive prostate cancer by whole-genome sequencing of tissue or liquid biopsies ' , International Journal of Cancer , vol. 155 , no. 2 , pp. 298-313 . https://doi.org/10.1002/ijc.34949
مصطلحات موضوعية: ctDNA, genomics, liquid biopsies, prostate cancer, whole-genome sequencing, Prostatic Neoplasms/genetics, Circulating Tumor DNA/genetics, Humans, Middle Aged, Male, Genomics/methods, Biomarkers, Tumor/genetics, DNA Copy Number Variations, Liquid Biopsy/methods, Aged, 80 and over, Whole Genome Sequencing/methods, Mutation
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2Academic Journal
المؤلفون: Sacheli, Rosalie, Egrek, Sabrina, El Moussaoui, Khalid, DARFOUF, Rajae, Adjetey, Akole Bahun, Hayette, Marie-Pierre
المصدر: Mycoses, 67 (12), e70005 (2024-12)
مصطلحات موضوعية: Trichophyton indotineae, DermaGenius resistance, diagnostic, gradient strips, laboratory, squalene epoxidase, terbinafine resistance, whole genome sequencing, Terbinafine, Antifungal Agents, Squalene Monooxygenase, Humans, Terbinafine/pharmacology, Drug Resistance, Fungal, Antifungal Agents/pharmacology, Microbial Sensitivity Tests/methods, Arthrodermataceae/drug effects, Arthrodermataceae/genetics, Squalene Monooxygenase/genetics, Whole Genome Sequencing/methods, Real-Time Polymerase Chain Reaction/methods, Dermatology, Infectious Diseases, Life sciences, Microbiology, Sciences du vivant, Microbiologie
Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1111/myc.70005; urn:issn:0933-7407; urn:issn:1439-0507
URL الوصول: https://orbi.uliege.be/handle/2268/327035
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3Academic Journal
المؤلفون: Kemp, Michael, Chen Nielsen, Xiaohui, Bartels, Mette Damkjær, Hasman, Henrik, Nielsen, Eva Møller
المصدر: Kemp , M , Chen Nielsen , X , Bartels , M D , Hasman , H & Nielsen , E M 2023 , ' Fuldgenom-DNA-sekventering til overvågning af bakterielle infektionssygdomme ' , Ugeskrift for Læger , bind 185 , nr. 18 , V11220690 . < https://ugeskriftet.dk/videnskab/fuldgenom-dna-sekventering-til-overvagning-af-bakterielle-infektionssygdomme >
مصطلحات موضوعية: Bacterial Infections, Disease Outbreaks/prevention & control, Humans, Whole Genome Sequencing/methods
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Banasik, Karina, Møller, Peter L, Techlo, Tanya R, Holm, Peter C, Walters, G Bragi, Ingason, Andrés, Rosengren, Anders, Rohde, Palle D, Kogelman, Lisette J A, Westergaard, David, Siggaard, Troels, Chmura, Piotr J, Chalmer, Mona A, Magnússon, Ólafur Þ, Þórisson, Guðmundur Á, Stefánsson, Hreinn, Guðbjartsson, Daníel F, Stefánsson, Kári, Olesen, Jes, Winther, Simon, Bøttcher, Morten, Brunak, Søren, Werge, Thomas, Nyegaard, Mette, Hansen, Thomas F
المصدر: Banasik , K , Møller , P L , Techlo , T R , Holm , P C , Walters , G B , Ingason , A , Rosengren , A , Rohde , P D , Kogelman , L J A , Westergaard , D , Siggaard , T , Chmura , P J , Chalmer , M A , Magnússon , Ó Þ , Þórisson , G Á , Stefánsson , H , Guðbjartsson , D F , Stefánsson , K , Olesen , J , Winther , S , Bøttcher , M , Brunak , S ....
مصطلحات موضوعية: Denmark, Female, Genome, Genomics, Humans, Polymorphism, Single Nucleotide/genetics, Whole Genome Sequencing/methods, Minor allele counts, Whole genome sequencing, Sequence variants, Browser, Variant interpretation
وصف الملف: application/pdf
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5Academic Journal
المصدر: WGS for Neurological Diseases Group 2022 , ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ' , The Lancet. Neurology , vol. 21 , no. 3 , pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2
مصطلحات موضوعية: Child, DNA Repeat Expansion, Fragile X Mental Retardation Protein/genetics, Humans, Prospective Studies, Retrospective Studies, State Medicine, United Kingdom, Whole Genome Sequencing/methods
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6Academic Journal
المؤلفون: Valls-Margarit, J., Galván-Femenía, I., Matías-Sánchez, D., Blay, N., Puiggròs, M., Carreras, A., Salvoro, C., Cortés, B., Amela, R., Farre, X., Lerga-Jaso, J., Puig, M., Sánchez-Herrero, J.F., Moreno, V., Perucho, M., Sumoy, L., Armengol, L., Delaneau, O., Cáceres, M., de Cid, R., Torrents, D.
المصدر: Nucleic acids research, vol. 50, no. 5, pp. 2464-2479
مصطلحات موضوعية: Acyltransferases, Genome, Human, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation, Lipase, Polymorphism, Single Nucleotide, Whole Genome Sequencing/methods
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35176773; info:eu-repo/semantics/altIdentifier/eissn/1362-4962; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F0C33E12626F2; https://serval.unil.ch/notice/serval:BIB_F0C33E12626F; https://serval.unil.ch/resource/serval:BIB_F0C33E12626F.P001/REF.pdf
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7Academic Journal
المؤلفون: Árnadóttir, Guðný Anna, Oddsson, Asmundur, Jensson, Brynjar O., Gisladottir, Svanborg, Simon, Mariella T., Arnthorsson, Asgeir O., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Ivarsdottir, Erna V., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Barrick, Rebekah, Saemundsdottir, Jona, le Roux, Louise, Oskarsson, Gudjon R., Ásmundsson, Jurate, Steffensen, Þóra Steinunn, Gudmundsson, Kjartan R., Ludvigsson, Petur, Jonsson, Jon J., Masson, Gisli, Jonsdottir, Ingileif, Holm, Hilma, Jonasson, Jon G., Magnusson, Olafur Th, Thorarensen, Olafur, Abdenur, Jose, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Bjornsson, Hans T., Þorsteinsdóttir, Unnur, Sulem, Patrick, Stefánsson, Kári
المساهمون: Faculty of Medicine, Clinical Laboratory Services, Diagnostics and Blood Bank, Women's and Childrens's Services, Health Sciences, Landspitali - The National University Hospital of Iceland
مصطلحات موضوعية: Lífefna- og sameindalíffræði, Meinafræði, Barnalæknisfræði, Cleavage And Polyadenylation Specificity Factor, Intellectual Disability, Genotype, Gene Frequency, Humans, Cleavage And Polyadenylation Specificity Factor/genetics, Child, Preschool, Genetic Predisposition to Disease/genetics, Infant, Male, Mutation, Missense, Iceland, Syndrome, Intellectual Disability/genetics, Homozygote, Phenotype, Pedigree, Adolescent, Alleles, Female, Whole Genome Sequencing/methods, Genetics, Population/methods, General Physics and Astronomy, General Chemistry
Relation: Nature Communications; 13(1); http://www.scopus.com/inward/record.url?scp=85124173130&partnerID=8YFLogxK; Árnadóttir , G A , Oddsson , A , Jensson , B O , Gisladottir , S , Simon , M T , Arnthorsson , A O , Katrinardottir , H , Fridriksdottir , R , Ivarsdottir , E V , Jonasdottir , A , Jonasdottir , A , Barrick , R , Saemundsdottir , J , le Roux , L , Oskarsson , G R , Ásmundsson , J , Steffensen , Þ S , Gudmundsson , K R , Ludvigsson , P , Jonsson , J J , Masson , G , Jonsdottir , I , Holm , H , Jonasson , J G , Magnusson , O T , Thorarensen , O , Abdenur , J , Norddahl , G L , Gudbjartsson , D F , Bjornsson , H T , Þorsteinsdóttir , U , Sulem , P & Stefánsson , K 2022 , ' Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene ' , Nature Communications , vol. 13 , no. 1 , 705 , pp. 705 . https://doi.org/10.1038/s41467-022-28330-8; 0f27e517-3c9e-4d63-bad6-cfd5dc5e9bb8; 85124173130; https://hdl.handle.net/20.500.11815/3032
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8Academic Journal
المؤلفون: Lv, Wei, Pan, Xiaoguang, Han, Peng, Wu, Shuang, Zeng, Yuchen, Wang, Qingqing, Guo, Lidong, Xu, Mengyang, Qi, Yanwei, Deng, Li, Xu, Zhe, Li, Conghui, Yu, Tianxi, Cui, Xin, Teng, Huajing, Xiang, Chongjun, Tan, Haotian, Li, Yue, Liang, Ning, Tao, Huiying, Gao, Qingqing, Yu, Guohua, Mi, Jia, Xu, Fuyi, Gong, Benjiao, Shi, Lei, Wang, Tao, Yang, Huanming, Dong, Wei, Bolund, Lars, Lin, Lin, Wang, Wenting, Li, Hanbo, Huang, Jinrong, Lin, Chunhua, Luo, Yonglun
المصدر: Lv , W , Pan , X , Han , P , Wu , S , Zeng , Y , Wang , Q , Guo , L , Xu , M , Qi , Y , Deng , L , Xu , Z , Li , C , Yu , T , Cui , X , Teng , H , Xiang , C , Tan , H , Li , Y , Liang , N , Tao , H , Gao , Q , Yu , G , Mi , J , Xu , F , Gong , B ....
مصطلحات موضوعية: Urinary Bladder Neoplasms/genetics, Humans, DNA, Circular/genetics, DNA Copy Number Variations/genetics, Whole Genome Sequencing/methods, Genetic Heterogeneity, Male, Female, Exome Sequencing/methods, Aged, Mutation/genetics
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9Academic Journal
المؤلفون: Gaynor, S.M., Joseph, T., Bai, X., Zou, Y., Boutkov, B., Maxwell, E.K., Delaneau, O., Hofmeister, R.J., Krasheninina, O., Balasubramanian, S., Marcketta, A., Backman, J., Reid, J.G., Overton, J.D., Lotta, L.A., Marchini, J., Salerno, W.J., Baras, A., Abecasis, G.R., Thornton, T.A.
المساهمون: Regeneron Genetics Center
المصدر: Nature genetics, vol. 56, no. 11, pp. 2345-2351
مصطلحات موضوعية: Humans, United Kingdom, Biological Specimen Banks, Exome/genetics, Genome-Wide Association Study/methods, Genome, Human, Exome Sequencing/methods, Whole Genome Sequencing/methods, Polymorphism, Single Nucleotide, Phenotype, Genotype, UK Biobank
Relation: info:eu-repo/semantics/altIdentifier/pmid/39322778; info:eu-repo/semantics/altIdentifier/eissn/1546-1718; https://serval.unil.ch/notice/serval:BIB_DE85673FF31D
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10Academic Journal
المؤلفون: Wertenbroek, R., Hofmeister, R.J., Xenarios, I., Thoma, Y., Delaneau, O.
المصدر: PLoS genetics, vol. 20, no. 7, pp. e1011092
مصطلحات موضوعية: Haplotypes, Whole Genome Sequencing/methods, Humans, Genetics, Population/methods, Genome, Human, Polymorphism, Single Nucleotide/genetics, Genome-Wide Association Study/methods, Algorithms
Relation: info:eu-repo/semantics/altIdentifier/pmid/38959269; info:eu-repo/semantics/altIdentifier/eissn/1553-7404; https://serval.unil.ch/notice/serval:BIB_3ED15061CE9A
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11Academic Journal
المؤلفون: Mendelaar, Pauline A J, Smid, Marcel, van Riet, Job, Angus, Lindsay, Labots, Mariette, Steeghs, Neeltje, Hendriks, Mathijs P, Cirkel, Geert A, van Rooijen, Johan M, Ten Tije, Albert J, Lolkema, Martijn P, Cuppen, Edwin, Sleijfer, Stefan, Martens, John W M, Wilting, Saskia M
المساهمون: CMM Groep Cuppen, Externen Med. Onco, MS Medische Oncologie, Cancer, CMM
مصطلحات موضوعية: Adult, Aged, 80 and over, Chemoradiotherapy/methods, Cohort Studies, Colorectal Neoplasms/genetics, F-Box-WD Repeat-Containing Protein 7/genetics, Female, Genetic Predisposition to Disease/genetics, Genome, Human/genetics, Genomics/methods, Humans, Male, Microsatellite Instability, Middle Aged, Mutation, Neoplasm Metastasis, Whole Genome Sequencing/methods, General Physics and Astronomy, General Chemistry, General Biochemistry,Genetics and Molecular Biology, Research Support, Non-U.S. Gov't, Journal Article
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: Kubik, S., Marques, A.C., Xing, X., Silvery, J., Bertelli, C., De Maio, F., Pournaras, S., Burr, T., Duffourd, Y., Siemens, H., Alloui, C., Song, L., Wenger, Y., Saitta, A., Macheret, M., Smith, E.W., Menu, P., Brayer, M., Steinmetz, L.M., Si-Mohammed, A., Chuisseu, J., Stevens, R., Constantoulakis, P., Sali, M., Greub, G., Tiemann, C., Pelechano, V., Willig, A., Xu, Z.
المصدر: Clinical microbiology and infection, vol. 27, no. 7, pp. 1036.e1-1036.e8
مصطلحات موضوعية: Artifacts, COVID-19/diagnosis, COVID-19/virology, Genome, Viral, Genotyping Techniques/methods, Genotyping Techniques/standards, Guidelines as Topic, High-Throughput Nucleotide Sequencing/methods, High-Throughput Nucleotide Sequencing/standards, Humans, RNA, Reproducibility of Results, SARS-CoV-2/genetics, SARS-CoV-2/isolation & purification, Sensitivity and Specificity, Whole Genome Sequencing/methods, Whole Genome Sequencing/standards, Workflow, Amplicon, Coronavirus, Genotyping, Guidelines, NGS, Next-generation sequencing, Recommendations, SARS-CoV-2
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/33813118; info:eu-repo/semantics/altIdentifier/eissn/1469-0691; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_75886C0769651; https://serval.unil.ch/notice/serval:BIB_75886C076965; https://serval.unil.ch/resource/serval:BIB_75886C076965.P001/REF.pdf
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13Academic Journal
المؤلفون: Mai, Si-Nguyen T, Bodhidatta, Ladaporn, Turner, Paul, Wangchuk, Sonam, Ha Thanh, Tuyen, Voong Vinh, Phat, Pham, Duy Thanh, Rabaa, Maia A, Thwaites, Guy E, Thomson, Nicholas R, Baker, Stephen, Chung The, Hao
المصدر: Mai , S-N T , Bodhidatta , L , Turner , P , Wangchuk , S , Ha Thanh , T , Voong Vinh , P , Pham , D T , Rabaa , M A , Thwaites , G E , Thomson , N R , Baker , S & Chung The , H 2021 , ' The evolutionary history of Shigella flexneri serotype 6 in Asia ' , Microbial genomics , vol. 7 , no. 12 , 000736 . https://doi.org/10.1099/mgen.0.000736
مصطلحات موضوعية: Asia, Drug Resistance, Bacterial, Evolution, Molecular, Genome, High-Throughput Nucleotide Sequencing, Phylogeny, Serotyping, Shigella flexneri/classification, Whole Genome Sequencing/methods
وصف الملف: application/pdf
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14Academic Journal
المصدر: Nedergaard , S , Jensen , A B , Haubek , D & Nørskov-Lauritsen , N 2021 , ' Multilocus Sequence Typing of Aggregatibacter actinomycetemcomitans Competently Depicts the Population Structure of the Species ' , Microbiology Spectrum , vol. 9 , no. 3 , e01085 . https://doi.org/10.1128/Spectrum.01085-21
مصطلحات موضوعية: Multilocus sequence abalysis, clonal types, leukotoxin, promoter region, periodontitis, Endocarditis, Genetic diversity, Leukotoxin (LtxA), Leukotoxin promoter region, Multilocus sequence analysis, Polymorphism, Population genetic analysis, Serotype, Genetics, Population, Periodontitis/microbiology, Humans, Multilocus Sequence Typing/methods, RNA, Ribosomal, 16S/genetics, Genotype, Genes, Essential/genetics, Phylogeny, Genome, Bacterial/genetics, Adolescent, Whole Genome Sequencing/methods, DNA
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15
المؤلفون: Papadopoulos, Nikolaos
مصطلحات موضوعية: Pycnogonum litorale, Pycnogonum, sea spider, Whole Genome Sequencing/methods
Relation: https://doi.org/10.5281/zenodo.14185694; https://doi.org/10.5281/zenodo.14188289; https://doi.org/10.5281/zenodo.14188290; oai:zenodo.org:14188290
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16Academic Journal
المؤلفون: Coppieters, Wouter, Karim, Latifa, Georges, Michel
المصدر: Genome Research, 30 (8), 1201 - 1207 (2020-08)
مصطلحات موضوعية: Animals, Cattle, Cell Count/methods, Female, Gene Frequency/genetics, Genome/genetics, Genotyping Techniques, Mass Screening/methods, Mastitis/diagnosis, Mastitis/genetics, Milk, Polymorphism, Single Nucleotide/genetics, Whole Genome Sequencing/methods, Cell Count, Gene Frequency, Genome, Mass Screening, Mastitis, Polymorphism, Single Nucleotide, Whole Genome Sequencing, Genetics, Genetics (clinical), Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
Relation: https://syndication.highwire.org/content/doi/10.1101/gr.256172.119; urn:issn:1088-9051; urn:issn:1549-5469
URL الوصول: https://orbi.uliege.be/handle/2268/303497
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17Academic Journal
المؤلفون: Holzerland, Julia, Leske, Anne, Fénéant, Lucie, GARCIN, Dominique, Kolakofsky, Daniel, Groseth, Allison
المصدر: http://lobid.org/resources/99370670838906441#!, 165(8):1899-1903.
مصطلحات موضوعية: Florida [MeSH], Virus Replication/genetics [MeSH], Humans [MeSH], Medical Microbiology, Virology, Regulatory Elements, Transcriptional/genetics [MeSH], Whole Genome Sequencing/methods [MeSH], Annotated Sequence Record, Arenaviruses, New World/genetics [MeSH], Infectious Diseases
Relation: https://repository.publisso.de/resource/frl:6470432; https://doi.org/10.1007/s00705-020-04681-9; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351806/
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18Academic Journal
المؤلفون: Pichler, Theresia, Rohrmoser, Amy, Letsch, Anne, Westphalen, C. Benedikt, Keilholz, Ulrich, Heinemann, Volker, Lamping, Mario, Jost, Philipp J., Riedmann, Kristina, Herschbach, Peter, Goerling, Ute
المصدر: http://lobid.org/resources/99370678536206441#!, 29(4):2171-2178.
مصطلحات موضوعية: Whole genome sequencing, Female [MeSH], Communication, Aged [MeSH], Adult [MeSH], Humans [MeSH], Physician-Patient Relations/ethics [MeSH], Precision Medicine/methods [MeSH], Precision cancer medicine, Communication [MeSH], Middle Aged [MeSH], Whole Genome Sequencing/methods [MeSH], Oncology, Information, Original Article, Molecular diagnostic, Qualitative Research [MeSH], Male [MeSH], Neoplasms/therapy [MeSH]
Relation: https://repository.publisso.de/resource/frl:6467834; https://doi.org/10.1007/s00520-020-05692-7; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892511/
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19Academic Journal
المؤلفون: Sadek, M., Poirel, L., Nordmann, P., Nariya, H., Shimamoto, T.
المصدر: Journal of global antimicrobial resistance, vol. 20, pp. 41-42
مصطلحات موضوعية: Animals, Base Composition, Cattle, Colistin/pharmacology, Drug Resistance, Multiple, Bacterial, Egypt, Escherichia coli/drug effects, Escherichia coli/genetics, Escherichia coli/isolation & purification, Escherichia coli Proteins/genetics, Food Microbiology, Genome Size, High-Throughput Nucleotide Sequencing, Meat Products/microbiology, Microbial Sensitivity Tests, Plasmids/genetics, Whole Genome Sequencing/methods, Escherichia coli, IncI2, Whole-genome sequencing, mcr-1
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/31786359; info:eu-repo/semantics/altIdentifier/eissn/2213-7173; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_FE9455B792BE6; https://serval.unil.ch/notice/serval:BIB_FE9455B792BE; https://serval.unil.ch/resource/serval:BIB_FE9455B792BE.P001/REF.pdf
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20Academic Journal
المؤلفون: The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Royo, Romina, Vazquez, Miguel, Bosio, Mattia, Valencia, Alfonso, Torrents, David, Gelpi, Josep, Milovanovic, Ana, Puiggròs, Montserrat, Bartolome, Javier, Vicente, David, Fink, J. Lynn, Dueso Barroso, Ana, Villasante, Izar, Bartolomé Rodriguez, Javier
المساهمون: Barcelona Supercomputing Center
مصطلحات موضوعية: Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica, Whole Genome Sequencing--methods, Genomics--Databases, Genome mapping, Pan-cancer analysis of whole genomes, Parallel sequencing, Consortium of the International Cancer Genome Consortium, The Cancer Genome Atlas, Compute clouds, Càncer -- Aspectes genètics
وصف الملف: 50 p.; application/pdf
Relation: https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-020-1969-6/MediaObjects/41586_2020_1969_MOESM1_ESM.pdf; https://www.nature.com/articles/s41586-020-1969-6; The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium [et al.]. Pan-cancer analysis of whole genomes. "Nature", 2020, vol. 578, p. 82-93.; http://hdl.handle.net/2117/350984
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