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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 -
2Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
المؤلفون: David Porubsky, Wolfram Höps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T. Harvey, Barbara Henning, Peter A. Audano, David S. Gordon, Peter Ebert, Patrick Hasenfeld, Eva Benito, Qihui Zhu, Charles Lee, Francesca Antonacci, Matthias Steinrücken, Christine R. Beck, Ashley D. Sanders, Tobias Marschall, Evan E. Eichler, Jan O. Korbel
المصدر: Cell
مصطلحات موضوعية: Cancer Research, Segmental Duplications, Genomic, DNA Copy Number Variations, Genome, Human, Chromosome Inversion, Humans, Genomics, Article, General Biochemistry, Genetics and Molecular Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9822b7768575c49cfea2aea8b15cd5a8Test
http://edoc.mdc-berlin.de/21606/1/21606oa.pdfTest -
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المؤلفون: Mitchell R. Vollger, Katherine M. Munson, Philip C. Dishuck, Vy Dang, Yafei Mao, PingHsun Hsieh, Tzu-Hsueh Huang, Melanie Sorensen, Alexandra P. Lewis, Carl Baker, AnneMarie E. Welch, Stuart Cantsilieris, Jason G. Underwood, Evan E. Eichler
المصدر: Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)مصطلحات موضوعية: DNA Copy Number Variations, Science, General Physics and Astronomy, Locus (genetics), Evolutionary biology, Biology, Genome informatics, Genome, General Biochemistry, Genetics and Molecular Biology, Haplogroup, Article, Evolution, Molecular, Gene Duplication, Gene duplication, Animals, Humans, Copy-number variation, Selection, Genetic, Phylogeny, Segmental duplication, Neanderthals, Multidisciplinary, Genome, Human, Haplotype, Membrane Proteins, Hominidae, General Chemistry, Haplotypes, Homo sapiens
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42982ca0ad731f52d7f3ee1d1c31af1eTest
http://europepmc.org/articles/PMC8387397Test -
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المؤلفون: Tsung Yu Lu, Rebecca Serra Mari, Joyce V. Lee, Peter A. Audano, Susan Fairley, Mark Chaisson, Scott E. Devine, Ira M. Hall, Maryam Ghareghani, Sushant Kumar, Aaron M. Wenger, Jan O. Korbel, Hufsah Ashraf, Feyza Yilmaz, Tobias Marschall, Jana Ebler, Zechen Chong, Wolfram Höps, Paul Flicek, Kai Ye, Haley J. Abel, Katherine M. Munson, Jiadong Lin, Qihui Zhu, Weichen Zhou, Xiaofei Yang, Wayne E. Clarke, Michael C. Zody, Uday S. Evani, Xinghua Shi, Patrick Hasenfeld, Martin Santamarina, Bernardo Rodriguez-Martin, Tobias Rausch, Michael E. Talkowski, Jose M. C. Tubio, Luke J. Tallon, Yang I. Li, Yu Chen, Junjie Chen, André Corvelo, Zepeng Mu, PingHsun Hsieh, David Porubsky, Nelson T. Chuang, William T. Harvey, Alexandra P. Lewis, Marc Jan Bonder, Oliver Stegle, Benjamin Raeder, Xuefang Zhao, Alex Hastie, Harrison Brand, Allison A. Regier, Peter Ebert, Ryan E. Mills, Anna O. Basile, Marta Byrska-Bishop, Mark Gerstein, Chong Li, Arvis Sulovari, Jingwen Ren, Ashley D. Sanders, Charles Lee, Evan E. Eichler
المصدر: Science
مصطلحات موضوعية: Male, Genotype, Retroelements, Population, Quantitative Trait Loci, Sequence assembly, Computational biology, Biology, Genome, Article, Structural variation, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, Population Groups, Humans, education, 030304 developmental biology, Whole genome sequencing, 0303 health sciences, education.field_of_study, Multidisciplinary, Contig, Whole Genome Sequencing, Genome, Human, Sequence Inversion, Genetic Variation, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Interspersed Repetitive Sequences, Haplotypes, Expression quantitative trait loci, Human genome, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae368c712ded1d7cb88a3aa16db254bTest
https://pubmed.ncbi.nlm.nih.gov/33963350Test -
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المؤلفون: Philip C. Dishuck, Karen H. Miga, Leonardo G. de Lima, Glennis A. Logsdon, Mario Ventura, Katherine M. Munson, Sergey Koren, Mikhail Liskovykh, Evan E. Eichler, Sergey Nurk, Tina A. Graves-Lindsay, Chirag Jain, Andrey Bzikadze, Tatiana Dvorkina, Alexandra M. Lewis, William T. Harvey, Kendra Hoekzema, Arang Rhie, Carl Baker, Jennifer L. Gerton, Ludovica Mercuri, Shwetha C. Murali, Yafei Mao, David Porubsky, Vladimir Larionov, Adam M. Phillippy, Mitchell R. Vollger, Melanie Sorensen, Alla Mikheenko, PingHsun Hsieh, Milinn Kremitzki, Urvashi Surti
المصدر: Nature
مصطلحات موضوعية: Male, Genome evolution, Pongo abelii, Neocentromere, Pan troglodytes, Centromere, Genomics, Minisatellite Repeats, Biology, DNA, Satellite, Genome, Article, Evolutionary genetics, Cell Line, Epigenesis, Genetic, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Animals, Humans, Phylogeny, 030304 developmental biology, Centromeres, 0303 health sciences, Multidisciplinary, Human evolutionary genetics, Chromosome, DNA Methylation, Telomere, Macaca mulatta, Evolutionary biology, Human genome, Female, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06d2142a3358f078ca48782aac70917cTest
https://pubmed.ncbi.nlm.nih.gov/33828295Test -
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المؤلفون: Shwetha C. Murali, Trygve E. Bakken, Rachel K. Earl, Tianyun Wang, Uday S. Evani, Kendra Hoekzema, Lara Heermans Winterkorn, Evan E. Eichler, Bradley P. Coe, Marta Byrska-Bishop, PingHsun Hsieh, Raphael Bernier, Tychele N. Turner, Hui Guo, Amy B. Wilfert, Arvis Sulovari, Michael C. Zody
المصدر: Nat Genet
مصطلحات موضوعية: Proband, Candidate gene, Autism Spectrum Disorder, Sequencing data, Gene Dosage, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Article, Evolution, Molecular, Negative selection, Data sequences, Genetics, medicine, Humans, Genetic Predisposition to Disease, Protein Interaction Maps, Autistic Disorder, Gene, Models, Genetic, Whole Genome Sequencing, Siblings, Proteins, medicine.disease, Pedigree, Haplotypes, Mutation, Autism, Intracellular transport
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5811dd62a287aeac6a6e94e61db3b94dTest
https://pubmed.ncbi.nlm.nih.gov/34312540Test -
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المؤلفون: Shwetha C. Murali, Melanie Sorensen, Wolfram Höps, David Porubsky, David Gordon, Alex A. Pollen, Jan O. Korbel, Tobias Marschall, Ashley D. Sanders, Evan E. Eichler, PingHsun Hsieh, Francesca Antonacci, Arvis Sulovari, Stuart Cantsilieris, Ludovica Mercuri, Ruiyang Li, Mario Ventura
المصدر: Nature Genetics
Nature genetics, vol 52, iss 8
Nature geneticsمصطلحات موضوعية: Male, Genome evolution, DNA Copy Number Variations, Evolution, Locus (genetics), Biology, Medical and Health Sciences, Article, Chromosomes, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, Genetics, Animals, Humans, Copy-number variation, Gene, X chromosome, 030304 developmental biology, 0303 health sciences, Genome, Breakpoint, Haplotype, Human Genome, Molecular, Hominidae, Biological Sciences, Haplotypes, Evolutionary biology, Chromosome Inversion, Female, 030217 neurology & neurosurgery, Biotechnology, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19058ff8e760c191ba13d559fa7a37daTest
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المؤلفون: Katherine M. Munson, Evan E. Eichler, PingHsun Hsieh, Flavia Angela Maria Maggiolini, Giorgia Chiatante, Alexandra P. Lewis, Francesca Antonacci, Vy Dang, Carl Baker, Stuart Cantsilieris, David Porubsky, Bradley J. Nelson, Shwetha C. Murali, Melanie Sorensen, Jean-François Deleuze, Kendra Hoekzema, Jason G. Underwood, Mitchell R. Vollger, Hélène Blanché, Zev N. Kronenberg
المصدر: Science. 366
مصطلحات موضوعية: DNA Copy Number Variations, Introgression, Biology, Genetic Introgression, Genome, Article, Evolution, Molecular, mental disorders, Chromosome Duplication, Genetic variation, Animals, Humans, Copy-number variation, Selection, Genetic, Neanderthals, Whole genome sequencing, Polymorphism, Genetic, Multidisciplinary, Models, Genetic, Whole Genome Sequencing, Genome, Human, Haplotype, Hominidae, Haplotypes, Evolutionary biology, Human genome, Melanesia, Adaptation, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d2e52083cc01a0d6dbe06506e4b873Test
https://doi.org/10.1126/science.aax2083Test -
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المؤلفون: Mark Chaisson, Jay Shendure, Melanie Sorensen, Christopher M. Hill, Zev N. Kronenberg, Fred H. Gage, Andy Wing Chun Pang, Shwetha C. Murali, Olivia S. Meyerson, Jason G. Underwood, Carl Baker, Kendra Hoekzema, Ruolan Qiu, Bradley J. Nelson, Katherine M. Munson, Susan K. Dutcher, Ahmet M. Denli, Wesley C. Warren, Stuart Cantsilieris, Archana Raja, Ernest T. Lam, Alex Hastie, Richard K. Wilson, Karen Clark, Benedict Paten, David Haussler, Tina A. Graves-Lindsay, Joyce V. Lee, Emma R. Hoppe, Alex A. Pollen, Mark Diekhans, Valerie A. Schneider, Nicola Lorusso, Robert S. Fulton, Fereydoun Hormozdiari, David Gordon, Mario Ventura, Evan E. Eichler, Anne Marie E. Welch, Joel Armstrong, Max L. Dougherty, PingHsun Hsieh, Han Cao, Ian T. Fiddes
المصدر: Science (New York, N.Y.), vol 360, iss 6393
مصطلحات موضوعية: 0301 basic medicine, Lineage (genetic), Evolution, General Science & Technology, 1.1 Normal biological development and functioning, Retrotransposon, Biology, Genome, Article, Structural variation, Evolution, Molecular, 03 medical and health sciences, Contig Mapping, 0302 clinical medicine, Underpinning research, Genetics, 2.1 Biological and endogenous factors, Animals, Humans, Aetiology, Gene, Synteny, Bacterial artificial chromosome, Multidisciplinary, Genome, Human, Human Genome, Molecular, Genetic Variation, Hominidae, Molecular Sequence Annotation, DNA, Sequence Analysis, DNA, Stem Cell Research, 030104 developmental biology, Evolutionary biology, Generic health relevance, Sequence Analysis, 030217 neurology & neurosurgery, Reference genome, Human, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303a4bf8adee0d27a752e4b6594be6aaTest
https://pubmed.ncbi.nlm.nih.gov/30006623Test