المؤلفون: Raquel Garza, Diahann Atacho, Anita Adami, Patricia Gerdes, Meghna Vinod, PingHsun Hsieh, Ofelia Karlsson, Vivien Horvath, Pia A. Johansson, Ninoslav Pandiloski, Jon Matas, Annelies Quaegebeur, Antonina Kouli, Yogita Sharma, Marie E Jönsson, Emanuela Monni, Elisabet Englund, Evan E. Eichler, Molly Hammell, Roger A. Barker, Zaal Kokaia, Christopher H. Douse, Johan Jakobsson

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ddf321c7e79d7591ab8ac4d4ec1f47a3Test
https://doi.org/10.1101/2023.03.04.531072Test

المؤلفون: Jiadong Lin, Xiaofei Yang, Walter Kosters, Tun Xu, Yanyan Jia, Songbo Wang, Qihui Zhu, Mallory Ryan, Li Guo, Chengsheng Zhang, Charles Lee, Scott E. Devine, Evan E. Eichler, Kai Ye, Mark B. Gerstein, Ashley D. Sanders, Micheal C. Zody, Michael E. Talkowski, Ryan E. Mills, Jan O. Korbel, Tobias Marschall, Peter Ebert, Peter A. Audano, Bernardo Rodriguez-Martin, David Porubsky, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, Tobias Rausch, Yu Chen, Zechen Chong, Katherine M. Munson, Mark J.P. Chaisson, Junjie Chen, Xinghua Shi, Aaron M. Wenger, William T. Harvey, Patrick Hansenfeld, Allison Regier, Ira M. Hall, Paul Flicek, Alex R. Hastie, Susan Fairely

المصدر: Genomics, Proteomics and Bioinformatics, 20(1), 205-218

مصطلحات موضوعية: Cancer Research, Genome, Computer science, business.industry, Graph based, Breakpoint, High-Throughput Nucleotide Sequencing, Pattern recognition, Genomics, Sequence Analysis, DNA, Biochemistry, Computational Mathematics, Sequence homology, Mutation, Genetics, Feature (machine learning), Graph (abstract data type), Artificial intelligence, business, Molecular Biology, Algorithms

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e5942fbb13f962b958ac29c2ee509d0Test
https://doi.org/10.1016/j.gpb.2021.03.007Test

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: Zepeng Mu, Jana Ebler, PingHsun Hsieh, Kai Ye, Marta Byrska-Bishop, William T. Harvey, Mark Gerstein, Chong Li, Bernardo Rodriguez-Martin, Tobias Rausch, Michael E. Talkowski, Rebecca Serra Mari, Allison Regier, Xinghua Shi, Arvis Sulovari, Weichen Zhou, Martin Santamarina, Hufsah Ashraf, Oliver Stegle, Scott E. Devine, Yu Chen, Xuefang Zhao, Jiadong Lin, Susan Fairley, Mark Chaisson, Wolfram Höps, Alexandra P. Lewis, Ira M. Hall, Benjamin Raeder, Feyza Yilmaz, Wayne E. Clarke, Aaron M. Wenger, Qihui Zhu, Xiaofei Yang, Ashley D. Sanders, Marc Jan Bonder, Junjie Chen, Maryam Ghareghani, Katherine M. Munson, Luke J. Tallon, Evan E. Eichler, Alex Hastie, Paul Flicek, Jose M. C. Tubio, Jan O. Korbel, Peter A. Audano, Jingwen Ren, Peter Ebert, Tobias Marschall, Nelson T. Chuang, David Porubsky, Anna O. Basile, Joyce V. Lee, Yang I. Li, Harrison Brand, André Corvelo, Michael C. Zody, Patrick Hasenfeld, Ryan E. Mills, Charles Lee, Zechen Chong, Haley J. Abel, Sushant Kumar

مصطلحات موضوعية: Structural variation, education.field_of_study, Contig, Population, Haplotype, Expression quantitative trait loci, Sequence assembly, Human genome, Computational biology, Biology, education, Genotyping

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dc0b557d21456d6ebdcdea2f2663403fTest
https://doi.org/10.1101/2020.12.16.423102Test

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

المؤلفون: Alexandra P. Lewis, PingHsun Hsieh, Jason G. Underwood, Yafei Mao, AnneMarie E. Welch, Mitchell R. Vollger, Tzu-Hsueh Huang, Vy Dang, Carl Baker, Stuart Cantsilieris, Katherine M. Munson, Philip C. Dishuck, Evan E. Eichler, Melanie Scofield

مصطلحات موضوعية: Evolutionary biology, Biology, Human specific, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::69a011de183c5221ac06de6d61b7960cTest
https://doi.org/10.21203/rs.3.rs-77798/v1Test

المؤلفون: Yafei Mao, Alexandra M. Lewis, Mario Ventura, Vladimir Larionov, Tina A. Graves-Lindsay, Mikhail Liskovykh, Adam M. Phillippy, Evan E. Eichler, Philip C. Dishuck, Melanie Sorensen, Shwetha C. Murali, Urvashi Surti, Chirag Jain, David Porubsky, Andrey Bzikadze, Ludovica Mercuri, Glennis A. Logsdon, Karen H. Miga, PingHsun Hsieh, Sergey Koren, Milinn Kremitzki, Katherine M. Munson, Leonardo G. de Lima, Carl Baker, Arang Rhie, Jennifer L. Gerton, Mitchell R. Vollger, Sergey Nurk, Kendra Hoekzema

مصطلحات موضوعية: Mutation rate, Variable number tandem repeat, Autosome, Neocentromere, Phylogenetic tree, Evolutionary biology, Satellite DNA, Kinetochore, Chromosome, Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e84b62a868220b1a2eb6d63ead72005Test
https://doi.org/10.1101/2020.09.08.285395Test

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

المؤلفون: Per Ludvik Brattås, Jenny Johansson, Daniela A. Grassi, Didier Trono, Diahann A. M. Atacho, Johan Jakobsson, Yogita Sharma, Julien Pontis, Raquel Garza, Karolina Pircs, Pia A. Johansson, PingHsun Hsieh, Marie E. Jönsson, Christopher H. Douse, Feride Eren, Evan E. Eichler

مصطلحات موضوعية: Genetics, Regulation of gene expression, Structural variation, Variable number tandem repeat, Forebrain, Mitophagy, Locus (genetics), Biology, Transcription factor, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b159c01d678423f11d214b2dfb597eceTest
https://doi.org/10.1101/2020.08.18.255562Test

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 Biology

مصطلحات 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