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: 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 Reports

مصطلحات 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

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: Chiara Ferrandi, Robbie Waugh, Gianluca Bretani, Paolo Bagnaresi, Luigi Cattivelli, Agostino Fricano, Benjamin Kilian, Joanne Russell, Laura Rossini

المصدر: The Plant Journal

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, DNA Copy Number Variations, Plant Science, Biology, Genes, Plant, 01 natural sciences, Chromosomes, Plant, 03 medical and health sciences, Segmental Duplications, Genomic, Genetics, Copy-number variation, segmental duplications, Domestication, Gene, Phylogeny, Exome sequencing, Sequence (medicine), Segmental duplication, 2. Zero hunger, Genetic diversity, barley, food and beverages, Hordeum, Original Articles, Cell Biology, 030104 developmental biology, Original Article, exome sequencing, Genome, Plant, copy number variants, 010606 plant biology & botany, Reference genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d954edb4482c4ed49d016da498d36cdTest
https://doi.org/10.1111/tpj.14784Test

المؤلفون: R. Geeta, Rajesh Tandon, Banisha Phukela, Sandip Das

المصدر: Molecular Genetics and Genomics. 295:563-577

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Lineage (evolution), Genomics, 01 natural sciences, Genome, Evolution, Molecular, 03 medical and health sciences, Segmental Duplications, Genomic, Gene Expression Regulation, Plant, Phylogenetics, Gene duplication, Genetics, Molecular Biology, Phylogeny, Solanaceae, Plant Proteins, Segmental duplication, Whole genome sequencing, biology, General Medicine, biology.organism_classification, 030104 developmental biology, Evolutionary biology, Multigene Family, Transcription Factors, 010606 plant biology & botany

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a279a72b78ef432daaa326d48e1aedTest
https://doi.org/10.1007/s00438-019-01641-0Test

المؤلفون: Hitoshi Kiyoi, Naomi Kawashima, Yuichi Ishikawa

المصدر: Cancer Science

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Cancer Research, medicine.medical_treatment, Hematopoietic stem cell transplantation, Review Article, acute myeloid leukemia, medicine.disease_cause, Receptor tyrosine kinase, resistance, 03 medical and health sciences, 0302 clinical medicine, fluids and secretions, Segmental Duplications, Genomic, Protein Domains, FMS‐like tyrosine kinase, hemic and lymphatic diseases, medicine, Humans, Point Mutation, Protein kinase B, Review Articles, Protein Kinase Inhibitors, Sequence Deletion, Mutation, Clinical Trials as Topic, biology, business.industry, Point mutation, Myeloid leukemia, tyrosine kinase, hemic and immune systems, General Medicine, inhibitor, Leukemia, Myeloid, Acute, 030104 developmental biology, Oncology, fms-Like Tyrosine Kinase 3, Drug Resistance, Neoplasm, 030220 oncology & carcinogenesis, embryonic structures, biology.protein, Cancer research, business, Tyrosine kinase, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::645d5837b26b66eae7bda3e44b7764e2Test
http://europepmc.org/articles/PMC7004512Test

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