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المؤلفون: Melanie Sorensen, Yafei Mao, Sofie R. Salama, Claudia Rita Catacchio, Andy Wing Chun Pang, Françoise Thibaud-Nissen, Carl Baker, LaDeana W. Hillier, Ruiyang Li, Arvis Sulovari, Philip C. Dishuck, PingHsun Hsieh, Katherine M. Munson, Ludovica Mercuri, Jason D Fernandes, Jessica M. Storer, Joyce V. Lee, Benedict Paten, Mark A. Batzer, Peter A. Audano, David Porubsky, Tzu-Hsueh Huang, Jason G. Underwood, Evan E. Eichler, Jinna Hoffman, William T. Harvey, Kendra Hoekzema, Jerilyn A. Walker, Ian T. Fiddes, David Gordon, Marina Haukness, Alex Hastie, Alexandra P. Lewis, Francesca Antonacci, Mario Ventura, Shwetha C. Murali, Francesco Montinaro, Ilaria Piccolo, Mark Diekhans
المصدر: Nature
مصطلحات موضوعية: Pan troglodytes, Sequence assembly, Genomics, Biology, Genome informatics, Genome, Article, Evolutionary genetics, Coalescent theory, Evolution, Molecular, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Animals, Sequencing, Phylogeny, 030304 developmental biology, Segmental duplication, 0303 health sciences, Gorilla gorilla, Multidisciplinary, Bonobo, Pongo, Molecular Sequence Annotation, Sequence Analysis, DNA, Pan paniscus, biology.organism_classification, Genome evolution, Genes, Evolutionary biology, Eukaryotic Initiation Factor-4A, Female, Human genome, Mobile genetic elements, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c85371fc3bdca9e475023b689b3d53Test
https://doi.org/10.1038/s41586-021-03519-xTest -
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المؤلفون: Yukyung Jun, Evan E. Eichler, Scott E. Devine, Ben Weisburd, Harrison Brand, Jack Fu, Ryan L. Collins, Jan O. Korbel, Harold Z. Wang, Tobias Marschall, Michael E. Talkowski, Wan-Ping Lee, Mark Chaisson, Peter A. Audano, Ryan E. Mills, Qihui Zhu, Charles Lee, Alexandra M Weber, Mark Walker, Chelsea Lowther, Mark Gerstein, Xuefang Zhao, Yongqing Huang
المصدر: Am J Hum Genet
مصطلحات موضوعية: DNA Copy Number Variations, Sequence assembly, Genomics, Computational biology, Biology, Genome, Structural variation, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Report, Genetics, Humans, Copy-number variation, Genetics (clinical), 030304 developmental biology, Whole genome sequencing, 0303 health sciences, Whole Genome Sequencing, Genome, Human, Exons, Research Design, Genomic Structural Variation, Human genome, Goals, Sequence Alignment, 030217 neurology & neurosurgery, Reference genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ef94aebea841a46dec2e44cc40b347Test
https://doi.org/10.1016/j.ajhg.2021.03.014Test -
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المؤلفون: Mira Mastoras, Henriette O'Geen, Joseph Rosas, Daniela C. Soto, Dhriti Jagannathan, Colin J. Shew, Megan Y. Dennis, Gulhan Kaya, Paulina Carmona-Mora, Elizabeth F. S. Roberts
المساهمون: Norwick, Katja
المصدر: Molecular Biology and Evolution
Molecular biology and evolution, vol 38, iss 8مصطلحات موضوعية: AcademicSubjects/SCI01180, Segmental Duplications, Genomic, 0302 clinical medicine, Gene Duplication, Gene duplication, 2.1 Biological and endogenous factors, Aetiology, Promoter Regions, Genetic, Segmental duplication, Regulation of gene expression, 0303 health sciences, Genome, Chromatin, Segmental Duplications, Fast Track, Neofunctionalization, Human, Biotechnology, Gene isoform, animal structures, DNA Copy Number Variations, Pan troglodytes, 1.1 Normal biological development and functioning, Biology, ENCODE, Cell Line, Promoter Regions, 03 medical and health sciences, Genetic, Underpinning research, Genetics, Animals, Humans, Molecular Biology, Gene, primate evolution, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Evolutionary Biology, Genome, Human, Human Genome, AcademicSubjects/SCI01130, gene duplication, Gene Expression Regulation, Evolutionary biology, Genomic, Generic health relevance, Biochemistry and Cell Biology, gene regulation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea5cb188a6db548af4f4c8b1306a2b8Test
https://doi.org/10.1093/molbev/msab131Test -
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المؤلفون: Timofey Prodanov, Vikas Bansal
المصدر: Nature communications, vol 13, iss 1
مصطلحات موضوعية: Multidisciplinary, Genome, DNA Copy Number Variations, Whole Genome Sequencing, Genome, Human, Prevention, Human Genome, General Physics and Astronomy, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, General Chemistry, DNA, General Biochemistry, Genetics and Molecular Biology, Segmental Duplications, Vaccine Related, Segmental Duplications, Genomic, Biodefense, Genomic, Genetics, Humans, Generic health relevance, Sequence Analysis, Human, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f831322a554d6ef6e3034cc9f49919Test
https://escholarship.org/uc/item/8f32z1q3Test -
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المصدر: The Journal of Physical Chemistry B. 124:8050-8070
مصطلحات موضوعية: Genome, GTPase-activating protein, GTPase-Activating Proteins, Protein domain, Proteins, Biology, Intrinsically disordered proteins, Surfaces, Coatings and Films, Segmental Duplications, Genomic, Evolutionary biology, Proto-Oncogene Proteins, Materials Chemistry, Humans, Gene family, Human genome, Physical and Theoretical Chemistry, Gene, Segmental duplication
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cd668033bd4bb6e0794e220706171f9Test
https://doi.org/10.1021/acs.jpcb.0c07676Test -
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المؤلفون: Ming Xiao, Lahari Uppuluri, Beverly S. Emanuel, Donna M. McDonald-McGinn, Daniel E. McGinn, Deanne Taylor, Benjamin A. Silva, T. Blaine Crowley, Michael Xie, Heba Z. Abid, Bernice E. Morrow, Steven Pastor, Elaine H. Zackai, Oanh Tran, Alice Bailey, Eleanor Young, Danielle Carrado, Andrea Jin
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reportsمصطلحات موضوعية: Male, 0301 basic medicine, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, lcsh:Medicine, Biology, Genome informatics, Article, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, DiGeorge Syndrome, Humans, Homologous Recombination, lcsh:Science, Gene, Alleles, Segmental duplication, Genome, Multidisciplinary, Genome, Human, Haplotype, Breakpoint, lcsh:R, Chromosome Mapping, Low copy repeats, 030104 developmental biology, Haplotypes, Evolutionary biology, 030220 oncology & carcinogenesis, Female, Human genome, lcsh:Q, Chromosome Deletion, Homologous recombination
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32c1b75f551f3d9ba05ded3008e83778Test
http://link.springer.com/article/10.1038/s41598-020-69134-4Test -
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المؤلفون: Wiebke Hülsemann, Sérgio B. Sousa, Seval Türkmen, Pedro Louro, Vera M. Kalscheuer, Martin Vingron, Anna Latos-Bielenska, Marius-Konstantin Klever, Stefan Mundlos, Manuel Holtgrewe, Andreas Dufke, Björn Fischer-Zirnsak, Malte Spielmann, Fabiola Quintero-Rivera, Martin A. Mensah, Rocio Acuna-Hidalgo, Verena Heinrich, Eunice Matoso, Ilina D. Pluym, Uirá Souto Melo, Monika Cohen, Robert Schöpflin
المصدر: Am J Hum Genet
American journal of human genetics, vol 106, iss 6مصطلحات موضوعية: Developmental Disabilities, Molecular Conformation, Chromosomal translocation, ectopic enhancer-promoter interactions, Medical and Health Sciences, cytogenetics, Translocation, Genetic, Cohort Studies, Chromosome conformation capture, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Hi-C, Chromosomes, Human, Genetics (clinical), Genetics & Heredity, 0303 health sciences, Genome, SOX9 Transcription Factor, Biological Sciences, Phenotype, Segmental Duplications, chromosome conformation capture, Human, Biotechnology, medicine.medical_specialty, Translocation, Locus (genetics), Computational biology, topologically associating domains, Biology, Chromosomes, Article, 03 medical and health sciences, Genetic, neo-TAD, gene misregulation, Genetics, medicine, Humans, developmental disorders, 030304 developmental biology, Genome, Human, Human Genome, Breakpoint, Cytogenetics, Chromatin Assembly and Disassembly, Genomic, Human genome, 030217 neurology & neurosurgery, Comparative genomic hybridization
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4f6505d31271c4902a5868465e7a14Test
https://doi.org/10.1016/j.ajhg.2020.04.016Test -
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المؤلفون: Lila Mouakkad-Montoya, Hisashi Tanaka, Michael M Murata, Armando E. Giuliano, Beth Osia, Arvis Sulovari, Makoto Katsumata, Ryusuke Suzuki, Evan E. Eichler, Anna Malkova
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: Male, DNA Copy Number Variations, extrachromosomal circular DNA, Extrachromosomal circular DNA, Biology, Genome, sperm, Germline, Chromosomes, chemistry.chemical_compound, Mice, Segmental Duplications, Genomic, Genetics, Animals, Humans, Copy-number variation, segmental duplications, Segmental duplication, Multidisciplinary, Genome, Human, multi-mapped reads, DNA, Biological Sciences, Spermatozoa, Nuclear DNA, Mice, Inbred C57BL, Germ Cells, chemistry, Human genome, DNA, Circular, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3f7d747c8b5561eb4a7b345e666b226Test
https://pubmed.ncbi.nlm.nih.gov/34789574Test -
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المؤلفون: Peter F. Arndt, Iren R. Umarova, Eldar T. Abdullaev
المصدر: BMC Genomics
BMC Genomics, Vol 22, Iss 1, Pp 1-16 (2021)مصطلحات موضوعية: Complex networks, QH426-470, Biology, Genome, DNA sequencing, Evolution, Molecular, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Replication slippage, Gene Duplication, Gene duplication, Genetics, Animals, Humans, 030304 developmental biology, Segmental duplication, 0303 health sciences, Genome, Human, Segmental duplications, Genomics, Evolutionary biology, Human genome, DNA microarray, Homologous recombination, SDs, TP248.13-248.65, 030217 neurology & neurosurgery, Research Article, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7559d0910279fd4c70697c03070b4f65Test
https://doi.org/10.1186/s12864-021-07789-7Test -
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المؤلفون: Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield
المساهمون: Shendure, J
المصدر: Genetics, vol 217, iss 2
Geneticsمصطلحات موضوعية: Heart Defects, Congenital, Williams Syndrome, Developmental Disabilities, Population, Locus (genetics), Chromosome Disorders, Biology, Chromosomes, Structural variation, Craniofacial Abnormalities, 03 medical and health sciences, Congenital, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Gene mapping, Seizures, Intellectual Disability, Genotype, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Repeated sequence, education, genomic disorders, segmental duplications, 030304 developmental biology, Segmental duplication, Heart Defects, Investigation, Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, Pair 16, Mental Disorders, Breakpoint, Human Genome, Pair 15, structural variation, 030220 oncology & carcinogenesis, Genomic Structural Variation, Genomic, genome mapping, Chromosome Deletion, Chromosomes, Human, Pair 16, Human, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4eTest
https://escholarship.org/uc/item/15562671Test
