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

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

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 8

مصطلحات 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

المؤلفون: Luis A. Pérez-Jurado, Marcos López-Sánchez, José Callizo, Tomas Marques-Bonet, Antonio Garcia-España, Javier U. Chicote

المساهمون: Ministerio de Economía y Competitividad (España), European Commission, Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Generalitat de Catalunya

المصدر: BMC Genomics, Vol 21, Iss 1, Pp 1-11 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
BMC Genomics

مصطلحات موضوعية: 0106 biological sciences, Genome evolution, lcsh:QH426-470, lcsh:Biotechnology, X-Y transposed region, Locus (genetics), Biology, 01 natural sciences, 03 medical and health sciences, Segmental Duplications, Genomic, Gene Duplication, lcsh:TP248.13-248.65, Genetics, Humans, Copy-number variation, Indel, NHEJ, 030304 developmental biology, Segmental duplication, Chromoanasynthesis, 0303 health sciences, Genetic diversity, Genome, Copy number variants, Genome, Human, Segmental duplications, Breakpoint, Circular DNA, lcsh:Genetics, Evolutionary biology, Human genome evolution, DNA, Circular, DNA microarray, MMBIR/FoSTeS, Research Article, 010606 plant biology & botany, Biotechnology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab188cab597809904708af337c396d46Test
http://link.springer.com/article/10.1186/s12864-020-06998-wTest

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 6

مصطلحات 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

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

المؤلفون: Sue J. Noy, Elizabeth M. C. Fisher, Laura J. Pulford, Robert C. Wykes, Justin L. Tosh, Frances K. Wiseman, Heather T. Whittaker, Karen Cleverley, Victor L. J. Tybulewicz, Paige Mumford, Elena R. Rhymes, Matthew C. Walker

المصدر: LonDownS Consortium 2021, ' Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models ', Scientific Reports, vol. 11, no. 1, 5736, pp. 5736 . https://doi.org/10.1038/s41598-021-85062-3Test
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Protein-Arginine N-Methyltransferases, Genetics of the nervous system, Disease, Transgenic Model, Amyloid beta-Protein Precursor, Mice, Segmental Duplications, Genomic, 0302 clinical medicine, Amyloid precursor protein, Transgenes, Genetics, Genetic dissection, 0303 health sciences, Multidisciplinary, Genetic interaction, Neurodegenerative diseases, Neurodevelopmental disorders, Brain, Publisher Correction, 3. Good health, Phenotype, Genetic linkage study, Medicine, Down syndrome, Science, Mice, Transgenic, Biology, Article, Protein Aggregates, 03 medical and health sciences, LonDownS Consortium, Alzheimer Disease, Seizures, mental disorders, medicine, Animals, Beta (finance), Gene, 030304 developmental biology, Amyloid beta-Peptides, Phosphotransferases, medicine.disease, Chromosomes, Mammalian, Survival Analysis, Disease Models, Animal, Solubility, biology.protein, Diseases of the nervous system, Down Syndrome, Trisomy, Chromosome 21, 030217 neurology & neurosurgery, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f83a4e1ba0ab588ff5b0683fcd3d75dTest
http://hdl.handle.net/10044/1/88295Test

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
Genetics

مصطلحات 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

المؤلفون: Arwa Al-Dilaimi, Lothar Faber, Jörn Kalinowski, Martin Farr, Alexander Goesmann, João Paulo Oliveira, Volker Rudolph, Susana Ferreira, Cornelius Knabbe, Sonja Bögeholz

المصدر: Molecular and Cellular Probes. 45:79-83

مصطلحات موضوعية: Male, Adolescent, Alu element, Computational biology, Biology, DNA sequencing, 03 medical and health sciences, Exon, Segmental Duplications, Genomic, Alu Elements, Gene duplication, medicine, Humans, Genetic Predisposition to Disease, Multiplex, Copy-number variation, Molecular Biology, 030304 developmental biology, 0303 health sciences, 030306 microbiology, High-Throughput Nucleotide Sequencing, food and beverages, RNA, Exons, Sequence Analysis, DNA, Cell Biology, medicine.disease, Fabry disease, Pedigree, alpha-Galactosidase, Fabry Disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e529384e4434bc0d17859a8ffdae56Test
https://doi.org/10.1016/j.mcp.2019.03.008Test

المؤلفون: Evan E. Eichler, Richard K. Wilson, Vy Dang, Anne Marie E. Welch, Max L. Dougherty, Tina A. Graves-Lindsay, Philip C. Dishuck, Melanie Sorensen, Mark Chaisson, Mitchell R. Vollger

المصدر: Nature methods

مصطلحات موضوعية: Oxford Nanopore Technologies (ONT), Sequence analysis, segmental duplication, long-read, Computational biology, Biology, Biochemistry, Genome, Article, 03 medical and health sciences, Segmental Duplications, Genomic, Humans, Molecular Biology, 030304 developmental biology, Sequence (medicine), Segmental duplication, PacBio sequencing, 0303 health sciences, Genome, Human, gene duplication, Computational Biology, Molecular Sequence Annotation, Sequence Analysis, DNA, Cell Biology, Gene Annotation, real-time (SMRT) sequence, Human genome, single-molecule, Biotechnology, Reference genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad9b57e90ff4f812c7ebad34ccb5a7bcTest
https://doi.org/10.1038/s41592-018-0236-3Test