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: 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: 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