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المؤلفون: Zheng-Bradley, X., Streeter, I., Fairley, S., Richardson, D., Clarke, L., Flicek, P., 1000 Genomes Project , C., Timmermann, B.
المصدر: GigaScience
مصطلحات موضوعية: 0301 basic medicine, European Nucleotide Archive, Computer science, read mapping, Health Informatics, Computational biology, Data Note, Genome, 03 medical and health sciences, Contig Mapping, 0302 clinical medicine, Human Genome Project, Humans, 1000 Genomes Project, reference genome, Sequence (medicine), Information retrieval, Contig, Whole Genome Sequencing, alignment, Reference Standards, Short read, Computer Science Applications, 030104 developmental biology, 030220 oncology & carcinogenesis, sequence reads, GRCh38, Sequence Alignment, Project analysis, Algorithms, Reference genome
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b188c05d96cc652e2ea9b6b8472d2c
https://pubmed.ncbi.nlm.nih.gov/28531267 -
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المؤلفون: Gardner, E., Lam, V., Harris, D., Chuang, N., Scott, E., Pittard, W., Mills, R., 1000 Genomes Project, C., Timmermann, B., Devine, S.
المصدر: Genome research (2017): 1916–1929. doi:10.1101/gr.218032.116
info:cnr-pdr/source/autori:Gardner EJ, Lam VK, Harris DN, Chuang NT, Scott EC, Pittard WS, Mills RE; 1000 Genomes Project Consortium, Devine SE./titolo:The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology./doi:10.1101%2Fgr.218032.116/rivista:Genome research/anno:2017/pagina_da:1916/pagina_a:1929/intervallo_pagine:1916–1929/volume
Genome Researchمصطلحات موضوعية: 0301 basic medicine, Pan troglodytes, Population, Method, Population genetics, Bioinformatics, Polymorphism, Single Nucleotide, Evolution, Molecular, 03 medical and health sciences, Mobile Element Locator Tool (MELT), Databases, Genetic, Genetics, Animals, Humans, 1000 Genomes Project, education, Denisovan, Genetics (clinical), Neanderthals, Whole genome sequencing, Clinical genomics, education.field_of_study, Whole Genome Sequencing, biology, Cloud systems, Computational Biology, High-Throughput Nucleotide Sequencing, biology.organism_classification, 030104 developmental biology, Evolutionary biology, DNA Transposable Elements, Human genome, Software
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51881ba82d6ac79c4d51b301833a548
https://publications.cnr.it/doc/378508 -
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المؤلفون: Lowy-Gallego, E., Fairley, S., Zheng-Bradley, X., Ruffier, M., Clarke, L., Flicek, P., 1000 Genomes Project , C., Timmermann, B.
المصدر: Wellcome Open Research (open access publishing platform)
Wellcome Open Researchمصطلحات موضوعية: single nucleotide variation, 0303 health sciences, Computer science, variant calling, population genetics, Medicine (miscellaneous), Genomics, Computational biology, Articles, Data Note, General Biochemistry, Genetics and Molecular Biology, Set (abstract data type), Data set, variant discovery, 03 medical and health sciences, Resource (project management), 0302 clinical medicine, Benchmark (computing), 1000 Genomes Project, Indel, 030217 neurology & neurosurgery, 030304 developmental biology
وصف الملف: application/pdf
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المؤلفون: Willems, T., Gymrek, M., Highnam, G., The 1000 Genomes Project, C., Herwig, R., Lehrach, H., Sudbrak, R., Timmermann, B., Mittelman, D., Erlich, Y.
المساهمون: Harvard University--MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology. Computational and Systems Biology Program, Willems, Thomas Frederick, Gymrek, Melissa A.
المصدر: Genome Research
Cold Spring Harbor Laboratory Pressمصطلحات موضوعية: Resource, Linkage disequilibrium, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Genetic genealogy, STR multiplex system, Population, Population genetics, Genomics, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Gene Frequency, Genetic variation, Genetics, Humans, 1000 Genomes Project, education, Alleles, Genetics (clinical), education.field_of_study, Genome, Human, Genetic Variation, eye diseases, humanities, Genetics, Population, Evolutionary biology, Microsatellite Repeats, Reference genome
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a25b660440461593f82286267bf330e
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المؤلفون: Abyzov, A., Iskow, R., Gokcumen, O., Radke, D., Balasubramanian, S., Pei, B., Habegger, L., 1000 Genomes Project, C., Timmermann, B., Lee, C., Gerstein, M.
المصدر: Genome Research
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1874::b5de20d034d177d2c2b3cf2b63495ca2
https://hdl.handle.net/11858/00-001M-0000-0027-B2F4-D11858/00-001M-0000-0027-B2F2-2 -
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المؤلفون: Khurana, E., Fu, Y., Colonna, V., Mu, X., Kang, H., Lappalainen, T., Sboner, A., Lochovsky, L., Chen, J., Harmanci, A., Das, J., Abyzov, A., Balasubramanian, S., Beal, K., Chakravarty, D., Challis, D., Chen, Y., Clarke, D., Clarke, L., Cunningham, F., Evani, U., Flicek, P., Fragoza, R., Garrison, E., Gibbs, R., Gumus, Z., Herrero, J., Kitabayashi, N., Kong, Y., Lage, K., Liluashvili, V., Lipkin, S., MacArthur, D., Marth, G., Muzny, D., Pers, T., Ritchie, G., Rosenfeld, J., Sisu, C., Wei, X., Wilson, M., Xue, Y., Yu, F., 1000 Genomes Project, C., Lehrach, H., Sudbrak, R., Albrecht, M., Amstislavskiy, V., Borodina, T., Lienhard, M., Mertes, F., Sultan, M., Timmermann, B., Yaspo, M., Dermitzakis, E., Yu, H., Rubin, M., Tyler-Smith, C., Gerstein, M.
المساهمون: Broad Institute of MIT and Harvard
المصدر: Science, Vol. 342, No 6154 (2013) P. 1235587
Science (N. Y., N.Y.) 342 (2013): 84–+. doi:10.1126/science.1235587
info:cnr-pdr/source/autori:Khurana, Ekta; Fu, Yao; Colonna, Vincenza; Mu, Xinmeng Jasmine; Kang, Hyun Min; Lappalainen, Tuuli; Sboner, Andrea; Lochovsky, Lucas; Chen, Jieming; Harmanci, Arif; Das, Jishnu; Abyzov, Alexej; Balasubramanian, Suganthi; Beal, Kathryn; Chakravarty, Dimple; Challis, Daniel; Chen, Yuan; Clarke, Declan; Clarke, Laura; Cunningham, Fiona; Evani, Uday S.; Flicek, Paul; Fragoza, Robert; Garrison, Erik; Gibbs, Richard; Guemues, Zeynep H.; Herrero, Javier; Kitabayashi, Naoki; Kong, Yong; Lage, Kasper; Liluashvili, Vaja; Lipkin, Steven M.; MacArthur, Daniel G.; Marth, Gabor; Muzny, Donna; Pers, Tune H.; Ritchie, Graham R. S.; Rosenfeld, Jeffrey A.; Sisu, Cristina; Wei, Xiaomu; Wilson, Michael; Xue, Yali; Yu, Fuli; Dermitzakis, Emmanouil T.; Yu, Haiyuan; Rubin, Mark A.; Tyler-Smith, Chris; Gerstein, Mark/titolo:Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics/doi:10.1126%2Fscience.1235587/rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:84/pagina_a:+/intervallo_pagine:84–+/volume:342
PMC
Scienceمصطلحات موضوعية: RNA, Untranslated, Population, Kruppel-Like Transcription Factors, Molecular Sequence Annotation/methods, RNA, Untranslated/genetics, Genomics, Computational biology, Biology, medicine.disease_cause, Genome, Binding Sites/genetics, Polymorphism, Single Nucleotide, Article, Population/genetics, Neoplasms, medicine, Humans, ddc:576.5, Selection, Genetic, education, Enhancer, Genetics, Mutation, education.field_of_study, Binding Sites, Multidisciplinary, Natural selection, Genome, Human, Genetic Variation, Molecular Sequence Annotation, Neoplasms/genetics, Human genome, Kruppel-Like Transcription Factors/metabolism
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed289199d0df8db0bb670ebaea2adeb8
https://archive-ouverte.unige.ch/unige:90279
