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1Recurrent 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: Susan M. Sunkin, Fabio Anaclerio, Claudia Rita Catacchio, Melanie Sorensen, Yafei Mao, Jason G. Underwood, AnneMarie E. Welch, John Huddleston, Weihong Jiang, Matthew E. Johnson, Katherine M. Munson, Maika Malig, Evan E. Eichler, PingHsun Hsieh, Ronald A. Conlon, Bruce T. Lamb, Max L. Dougherty, Santhosh Girirajan, Carl Baker, Arvis Sulovari, Stuart Cantsilieris, Mario Ventura
المصدر: Genome Biology, Vol 21, Iss 1, Pp 1-35 (2020)
Genome Biologyمصطلحات موضوعية: Primates, Genomic instability, Genome instability, Lineage (genetic), lcsh:QH426-470, Segmental duplication, Genome, Chromosomes, Evolution, Molecular, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Gene Duplication, biology.animal, Gene duplication, LCR16a, Animals, Humans, Gene family, Primate, lcsh:QH301-705.5, Gene, Phylogeny, 030304 developmental biology, 0303 health sciences, biology, Genome, Human, Research, Brain, Chromosome Mapping, Hominidae, Biodiversity, Exons, lcsh:Genetics, lcsh:Biology (General), Evolutionary biology, Nuclear pore interacting protein, Gene fusion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b98b6b64acbc48f62875c6a901a3e6Test
https://doi.org/10.1186/s13059-020-02074-4Test -
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المؤلفون: Anita Adami, Rodrigo Cataldo, Alessandro Fiorenzano, Malin Fex, Evan E. Eichler, Pia A. Johansson, Christopher H. Douse, Diahann A. M. Atacho, Johan Jakobsson, Raquel Garza, Daniela A. Grassi, Karolina Pircs, Yogita Sharma, Marie E. Jönsson, Edoardo Sozzi, Per Ludvik Brattås, PingHsun Hsieh, Jenny Johansson, Malin Parmar, Feride Eren, Didier Trono, Julien Pontis
المصدر: Cell Stem Cell. 29:52-69.e8
مصطلحات موضوعية: KRAB-ZNFs, Population, brain development, Locus (genetics), Biology, chimpanzee, evolution, Mitophagy, Genetics, medicine, Humans, forebrain neural progenitors, Gene Regulatory Networks, human, education, Gene, Transcription factor, Regulation of gene expression, education.field_of_study, Brain, CRISPRi, Cell Biology, Human brain, Cell biology, DNA-Binding Proteins, Organoids, medicine.anatomical_structure, Gene Expression Regulation, Forebrain, Molecular Medicine, transposable elements, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c3c119016850ecb6701ee8b70d212aTest
https://doi.org/10.1016/j.stem.2021.09.008Test -
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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: Michael F. Hammer, Ludmila P. Osipova, Ryan N. Gutenkunst, Joseph C. Watkins, PingHsun Hsieh, Tatiana M. Karafet, Brian Hallmark
المصدر: Molecular Biology and Evolution. 34:2913-2926
مصطلحات موضوعية: Gene Flow, 0301 basic medicine, Multifactorial Inheritance, Mutation rate, Demographic history, Acclimatization, Adaptation, Biological, Biology, DNA, Mitochondrial, 03 medical and health sciences, Asian People, Gene Frequency, Exome Sequencing, Ethnicity, Genetics, Humans, Exome, Molecular Biology, Allele frequency, Alleles, Phylogeny, Ecology, Evolution, Behavior and Systematics, Exome sequencing, Demography, Natural selection, Genetic Variation, Biological Evolution, Dietary Fats, Diet, Siberia, Genetic hitchhiking, Genetics, Population, 030104 developmental biology, Human evolution, Evolutionary biology, Adaptation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::965349388d859cd67a85c2d4a22d2d69Test
https://doi.org/10.1093/molbev/msx226Test