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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: 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