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

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/dd0c6ba953434ec38b1be1c12780fbb6Test

المؤلفون: Elisabeth A Kilroy, Amanda C Ignacz, Kaylee L Brann, Claire E Schaffer, Devon Varney, Sarah S Alrowaished, Kodey J Silknitter, Jordan N Miner, Ahmed Almaghasilah, Tashawna L Spellen, Alexandra D Lewis, Karissa Tilbury, Benjamin L King, Joshua B Kelley, Clarissa A Henry

المصدر: eLife, Vol 11 (2022)

مصطلحات موضوعية: neuromuscular development, dystroglycanopathies, skeletal muscle, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/62760Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/e30495404e4840359dd4fb9984b3b084Test

المؤلفون: Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Glenn Hickey, Shuangjia Lu, Julian K. Lucas, Jean Monlong, Haley J. Abel, Silvia Buonaiuto, Xian H. Chang, Haoyu Cheng, Justin Chu, Vincenza Colonna, Jordan M. Eizenga, Xiaowen Feng, Christian Fischer, Robert S. Fulton, Shilpa Garg, Cristian Groza, Andrea Guarracino, William T. Harvey, Simon Heumos, Kerstin Howe, Miten Jain, Tsung-Yu Lu, Charles Markello, Fergal J. Martin, Matthew W. Mitchell, Katherine M. Munson, Moses Njagi Mwaniki, Adam M. Novak, Hugh E. Olsen, Trevor Pesout, David Porubsky, Pjotr Prins, Jonas A. Sibbesen, Jouni Sirén, Chad Tomlinson, Flavia Villani, Mitchell R. Vollger, Lucinda L. Antonacci-Fulton, Gunjan Baid, Carl A. Baker, Anastasiya Belyaeva, Konstantinos Billis, Andrew Carroll, Pi-Chuan Chang, Sarah Cody, Daniel E. Cook, Robert M. Cook-Deegan, Omar E. Cornejo, Mark Diekhans, Peter Ebert, Susan Fairley, Olivier Fedrigo, Adam L. Felsenfeld, Giulio Formenti, Adam Frankish, Yan Gao, Nanibaa’ A. Garrison, Carlos Garcia Giron, Richard E. Green, Leanne Haggerty, Kendra Hoekzema, Thibaut Hourlier, Hanlee P. Ji, Eimear E. Kenny, Barbara A. Koenig, Alexey Kolesnikov, Jan O. Korbel, Jennifer Kordosky, Sergey Koren, HoJoon Lee, Alexandra P. Lewis, Hugo Magalhães, Santiago Marco-Sola, Pierre Marijon, Ann McCartney, Jennifer McDaniel, Jacquelyn Mountcastle, Maria Nattestad, Sergey Nurk, Nathan D. Olson, Alice B. Popejoy, Daniela Puiu, Mikko Rautiainen, Allison A. Regier, Arang Rhie, Samuel Sacco, Ashley D. Sanders, Valerie A. Schneider, Baergen I. Schultz, Kishwar Shafin, Michael W. Smith, Heidi J. Sofia, Ahmad N. Abou Tayoun, Françoise Thibaud-Nissen, Francesca Floriana Tricomi, Justin Wagner, Brian Walenz, Jonathan M. D. Wood, Aleksey V. Zimin, Guillaume Bourque, Mark J. P. Chaisson, Paul Flicek, Adam M. Phillippy, Justin M. Zook, Evan E. Eichler, David Haussler, Ting Wang, Erich D. Jarvis, Karen H. Miga, Erik Garrison, Tobias Marschall, Ira M. Hall, Heng Li, Benedict Paten

المصدر: Nature. 617:312-324

مصطلحات موضوعية: Cancer Research, Multidisciplinary

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce56c54eebc15371aabecb5595f996d0Test
https://doi.org/10.1038/s41586-023-05896-xTest

المؤلفون: Yafei Mao, William T. Harvey, David Porubsky, Katherine M. Munson, Kendra Hoekzema, Alexandra P. Lewis, Peter A. Audano, Allison Rozanski, Xiangyu Yang, Shilong Zhang, David S. Gordon, Xiaoxi Wei, Glennis A. Logsdon, Marina Haukness, Philip C. Dishuck, Hyeonsoo Jeong, Ricardo del Rosario, Vanessa L. Bauer, Will T. Fattor, Gregory K. Wilkerson, Qing Lu, Benedict Paten, Guoping Feng, Sara L. Sawyer, Wesley C. Warren, Lucia Carbone, Evan E. Eichler

المصدر: bioRxiv

مصطلحات موضوعية: Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04ea62ec74ca9f3d9403f8c476d9a54Test
https://doi.org/10.1101/2023.03.07.531415Test

المؤلفون: Michelle D. Noyes, William T. Harvey, David Porubsky, Arvis Sulovari, Ruiyang Li, Nicholas R. Rose, Peter A. Audano, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, Tuomo Mantere, Tina A. Graves-Lindsay, Ashley D. Sanders, Sara Goodwin, Melissa Kramer, Younes Mokrab, Michael C. Zody, Alexander Hoischen, Jan O. Korbel, W. Richard McCombie, Evan E. Eichler

المصدر: American Journal of Human Genetics, 109, 631-646
American Journal of Human Genetics, 109, 4, pp. 631-646
Am J Hum Genet

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Nucleotides, Mutation, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Genetics, High-Throughput Nucleotide Sequencing, Humans, Female, Genomics, Sequence Analysis, DNA, Software, Article, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bd9c7a2c56450a8a67447f01159d4aTest
https://doi.org/10.1016/j.ajhg.2022.02.014Test

المؤلفون: Arang Rhie, Sergey Nurk, Monika Cechova, Savannah J. Hoyt, Dylan J. Taylor, Nicolas Altemose, Paul W. Hook, Sergey Koren, Mikko Rautiainen, Ivan A. Alexandrov, Jamie Allen, Mobin Asri, Andrey V. Bzikadze, Nae-Chyun Chen, Chen-Shan Chin, Mark Diekhans, Paul Flicek, Giulio Formenti, Arkarachai Fungtammasan, Carlos Garcia Giron, Erik Garrison, Ariel Gershman, Jennifer Gerton, Patrick G.S. Grady, Andrea Guarracino, Leanne Haggerty, Reza Halabian, Nancy F. Hansen, Robert Harris, Gabrielle A. Hartley, William T. Harvey, Marina Haukness, Jakob Heinz, Thibaut Hourlier, Robert M. Hubley, Sarah E. Hunt, Stephen Hwang, Miten Jain, Rupesh K. Kesharwani, Alexandra P. Lewis, Heng Li, Glennis A. Logsdon, Julian K. Lucas, Wojciech Makalowski, Christopher Markovic, Fergal J. Martin, Ann M. Mc Cartney, Rajiv C. McCoy, Jennifer McDaniel, Brandy M. McNulty, Paul Medvedev, Alla Mikheenko, Katherine M. Munson, Terence D. Murphy, Hugh E. Olsen, Nathan D. Olson, Luis F. Paulin, David Porubsky, Tamara Potapova, Fedor Ryabov, Steven L. Salzberg, Michael E.G. Sauria, Fritz J. Sedlazeck, Kishwar Shafin, Valery A. Shepelev, Alaina Shumate, Jessica M. Storer, Likhitha Surapaneni, Angela M. Taravella Oill, Françoise Thibaud-Nissen, Winston Timp, Marta Tomaszkiewicz, Mitchell R. Vollger, Brian P. Walenz, Allison C. Watwood, Matthias H. Weissensteiner, Aaron M. Wenger, Melissa A. Wilson, Samantha Zarate, Yiming Zhu, Justin M. Zook, Evan E. Eichler, Rachel O’Neill, Michael C. Schatz, Karen H. Miga, Kateryna D. Makova, Adam M. Phillippy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d38b477c2daccca72d1302cd2225927dTest
https://doi.org/10.1101/2022.12.01.518724Test

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: Mitchell R. Vollger, Xavi Guitart, Philip C. Dishuck, Ludovica Mercuri, William T. Harvey, Ariel Gershman, Mark Diekhans, Arvis Sulovari, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, David Porubsky, Ruiyang Li, Sergey Nurk, Sergey Koren, Karen H. Miga, Adam M. Phillippy, Winston Timp, Mario Ventura, Evan E. Eichler

المصدر: Science

مصطلحات موضوعية: Multidisciplinary, Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb211c6b7455f0375bdf2d543612addTest
https://doi.org/10.1126/science.abj6965Test

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

المؤلفون: Tim Cherry, Seth J. Perlman, Rando Allikmets, Christina Lam, Katrina M Dipple, Alexias Safi, Hailey Loucks, Penny M Chow, Ian A. Glass, Xue Zou, Heather C Mefford, Angela Sun, Deborah A. Nickerson, Danny E. Miller, Dawn L. Earl, James T. Bennett, Alexandra P. Lewis, Stephanie Austin, Margaret P Adam, Apoorva K Iyengar, Arvis Sulovari, Edith P Almanza Fuerte, Andrew S. Allen, Audrey Squire, Karynne E. Patterson, Erin Huggins, Winston Lee, William H. Majoros, Emily S Bonkowski, Tianyun Wang, Priya S. Kishnani, Robin L. Bennett, Mary Claire King, Tara L. Wenger, Erika Beckman, Kendra Hoekzema, Gregory E. Crawford, Timothy E. Reddy, Evan E. Eichler, Irene Chang, Anne V. Hing, Zoe Nelson, Thomas J. Walsh, Dan Doherty, Megan C. Sikes, Michael J. Bamshad, Catherine R Paschal, Jessica X. Chong, Jenny Thies, Katherine M. Munson

المصدر: Am J Hum Genet

مصطلحات موضوعية: Male, DNA Copy Number Variations, Computational biology, Disease, Biology, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetics (clinical), 030304 developmental biology, Sequence (medicine), Data source, Chromosome Aberrations, 0303 health sciences, Genome, Human, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Phenotype, Karyotyping, Mutation (genetic algorithm), Cytogenetic Analysis, Mutation, Mendelian inheritance, symbols, Female, Nanopore sequencing, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ab12a1515b66691cb897b68d32911cTest
https://pubmed.ncbi.nlm.nih.gov/34216551Test