-
1
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 -
2
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 -
3
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 -
4
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 -
5
المؤلفون: Marta Byrska-Bishop, Rachel K. Earl, Uday S. Evani, Kendra Hoekzema, Shwetha C. Murali, Arvis Sulovari, Tianyun Wang, Trygve E. Bakken, Bradley P. Coe, Evan E. Eichler, Tychele N. Turner, PingHsun Hsieh, Hui Guo, Lara Heermans Winterkorn, Amy B. Wilfert, Michael C. Zody, Raphael Bernier
مصطلحات موضوعية: Proband, Genetics, 0303 health sciences, Candidate gene, Sequencing data, Biology, medicine.disease, 03 medical and health sciences, Negative selection, 0302 clinical medicine, medicine, Disease risk, Autism, Gene, 030217 neurology & neurosurgery, Intracellular transport, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::924b627cd0fde33540f0c110516e051cTest
https://doi.org/10.1101/2020.02.10.932327Test -
6
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
-
7
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 -
8
مصطلحات موضوعية: Genetics, Nonsynonymous substitution, 0303 health sciences, biology, Human evolutionary genetics, Epistasis and functional genomics, biology.organism_classification, Population genomics, Correlation, 03 medical and health sciences, 0302 clinical medicine, Mutation (genetic algorithm), Melanogaster, Fitness effects, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00ae7de05dc8c94e6f481352de28f79dTest
https://doi.org/10.1101/029546Test