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)

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bd9c7a2c56450a8a67447f01159d4a
https://doi.org/10.1016/j.ajhg.2022.02.014

المؤلفون: Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Nae-Chyun Chen, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G. S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Ying Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy

المساهمون: Nurk, Sergey [0000-0003-1301-5749], Koren, Sergey [0000-0002-1472-8962], Rhie, Arang [0000-0002-9809-8127], Rautiainen, Mikko [0000-0003-2971-267X], Bzikadze, Andrey V [0000-0002-7928-7950], Vollger, Mitchell R [0000-0002-8651-1615], Altemose, Nicolas [0000-0002-7231-6026], Uralsky, Lev [0000-0002-5565-7961], Gershman, Ariel [0000-0001-8899-8781], Aganezov, Sergey [0000-0003-2458-8323], Hoyt, Savannah J [0000-0001-7804-3236], Diekhans, Mark [0000-0002-0430-0989], Logsdon, Glennis A [0000-0003-2396-0656], Alonge, Michael [0000-0002-3692-1819], Antonarakis, Stylianos E [0000-0001-8907-5823], Borchers, Matthew [0000-0001-5903-3489], Bouffard, Gerard G [0000-0001-8744-6440], Chen, Nae-Chyun [0000-0002-4140-4568], Cheng, Haoyu [0000-0002-9209-5793], Chin, Chen-Shan [0000-0003-4394-2455], Chow, William [0000-0002-9056-201X], de Lima, Leonardo G [0000-0001-6340-6065], Dishuck, Philip C [0000-0003-2223-9787], Durbin, Richard [0000-0002-9130-1006], Fiddes, Ian T [0000-0002-1580-7443], Formenti, Giulio [0000-0002-7554-5991], Fungtammasan, Arkarachai [0000-0003-2398-0358], Garrison, Erik [0000-0003-3821-631X], Grady, Patrick GS [0000-0003-0180-7810], Graves-Lindsay, Tina A [0000-0002-0409-891X], Hall, Ira M [0000-0003-4442-6655], Hansen, Nancy F [0000-0002-0950-0699], Haukness, Marina [0000-0001-9991-8089], Howe, Kerstin [0000-0003-2237-513X], Jain, Miten [0000-0002-4571-3982], Jarvis, Erich D [0000-0001-8931-5049], Kirsche, Melanie [0000-0002-6631-4761], Kolmogorov, Mikhail [0000-0002-5489-9045], Korlach, Jonas [0000-0003-3047-4250], Kremitzki, Milinn [0000-0001-7980-3153], Li, Heng [0000-0003-4874-2874], Maduro, Valerie V [0000-0001-8250-9844], Marschall, Tobias [0000-0002-9376-1030], McDaniel, Jennifer [0000-0003-1987-0914], Miller, Danny E [0000-0001-6096-8601], Mullikin, James C [0000-0003-0825-3750], Myers, Eugene W [0000-0002-6580-7839], Olson, Nathan D [0000-0003-2585-3037], Paten, Benedict [0000-0001-8863-3539], Pevzner, Pavel A [0000-0002-0418-165X], Porubsky, David [0000-0001-8414-8966], Potapova, Tamara [0000-0003-2761-1795], Rosenfeld, Jeffrey A [0000-0002-8750-2841], Salzberg, Steven L [0000-0002-8859-7432], Sedlazeck, Fritz J [0000-0001-6040-2691], Shafin, Kishwar [0000-0001-5252-3434], Shumate, Alaina [0000-0002-4450-1857], Smit, Arian FA [0000-0003-2088-3165], Soto, Daniela C [0000-0002-6292-655X], Sović, Ivan [0000-0002-5900-4319], Storer, Jessica M [0000-0002-9619-5265], Streets, Aaron [0000-0002-3909-8389], Sullivan, Beth A [0000-0001-5216-4603], Thibaud-Nissen, Françoise [0000-0003-4957-7807], Torrance, James [0000-0002-6117-8190], Walenz, Brian P [0000-0001-8431-1428], Wenger, Aaron [0000-0003-1183-0432], Wood, Jonathan MD [0000-0002-7545-2162], Xiao, Chunlin [0000-0001-8702-4889], Yan, Stephanie M [0000-0002-6880-465X], Young, Alice C [0000-0003-0549-9261], Zarate, Samantha [0000-0001-5570-2059], McCoy, Rajiv C [0000-0003-0615-146X], Dennis, Megan Y [0000-0002-8502-5420], Alexandrov, Ivan A [0000-0003-4342-2003], Gerton, Jennifer L [0000-0003-0743-3637], O'Neill, Rachel J [0000-0002-1525-6821], Timp, Winston [0000-0003-2083-6027], Zook, Justin M [0000-0003-2309-8402], Schatz, Michael C [0000-0002-4118-4446], Eichler, Evan E [0000-0002-8246-4014], Miga, Karen H [0000-0001-9709-4565], Phillippy, Adam M [0000-0003-2983-8934], Apollo - University of Cambridge Repository

المصدر: Science (New York, N.Y.), vol 376, iss 6588

مصطلحات موضوعية: Chromosomes, Artificial, Bacterial, Genome, Multidisciplinary, General Science & Technology, Genome, Human, 1.1 Normal biological development and functioning, Human Genome, Bacterial, DNA, Sequence Analysis, DNA, Chromosomes, Cell Line, Underpinning research, Reference Values, Artificial, Human Genome Project, Genetics, Chromosomes, Human, Humans, Generic health relevance, Sequence Analysis, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a90349d97678f40cdb370a46304d2d
https://doi.org/10.1126/science.abj6987

المؤلفون: Ting-Jan Cho, Jennifer F. Hughes, Donna M. Muzny, James E. Womack, Kim C. Worley, Laura G. Brown, Lucinda Fulton, Catrina Fronick, Daniel W. Bellott, Bhanu P. Chowdhary, Elaine Owens, David C. Page, Shannon Dugan-Rocha, Tina A. Graves-Lindsay, Natalia Koutseva, Terje Raudsepp, Colin Kremitzki, Tatyana Pyntikova, Ziad Khan, William J. Murphy, Helen Skaletsky, Richard A. Gibbs, Wesley C. Warren, Richard K. Wilson

المصدر: Genome Research. 30:1716-1726

مصطلحات موضوعية: 0303 health sciences, Sequence analysis, Evolution of mammals, Biology, Y chromosome, 03 medical and health sciences, 0302 clinical medicine, Evolutionary biology, Convergent evolution, Gene duplication, Genetics, Gene family, Gene, 030217 neurology & neurosurgery, Genetics (clinical), X chromosome, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5b6b7baf035063fb9a1606b28c937627
https://doi.org/10.1101/gr.269902.120

المؤلفون: Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G.S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Yumi Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy

مصطلحات موضوعية: Complete sequence, Heterochromatin, Genomics, Human genome, Preprint, Computational biology, Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a01c9a160fe87e3a4ab72701aa8a9141
https://doi.org/10.1101/2021.05.26.445798

المؤلفون: David H. O’Connor, Flavia Angela Maria Maggiolini, Claudia Rita Catacchio, Louis J. Picker, Nicholas Maurer, Jason G. Underwood, Jeffrey Rogers, Mitchell R. Vollger, Mark A. Batzer, Jeffrey A. Roberts, Ashley D. Sanders, Katherine M. Munson, Jessica M. Storer, Merly Escalona, Jon E. Levine, Muthuswamy Raveendran, Mario Ventura, Jason D Fernandes, Jan O. Korbel, Joseph W. Kemnitz, R. Alan Harris, Evan E. Eichler, Douglas L. Rosene, Shwetha C. Murali, Mark Diekhans, David Gordon, David Porubsky, Philip C. Dishuck, Erin L. Kinnally, LaDeana W. Hillier, Betsy Ferguson, Joel Armstrong, Chad Tomlinson, Zsofia Kovacs-Balint, Sara M Thomasy, Tina A. Graves-Lindsay, Roger W. Wiseman, Michael L. Platt, Peter A. Audano, Jerilyn A. Walker, Ian T. Fiddes, Benedict Paten, Elizabeth Devogelaere, David H. Abbott, J. H. Pate Skene, Marina Haukness, Mar M. Sanchez, Ned H. Kalin, Milinn Kremitzki, Alexandra P. Lewis, Francesca Antonacci, H. Michael Kubisch, Richard E. Green, John P. Capitanio, Yafei Mao, Sofie R. Salama, Ludovica Mercuri, Wesley C. Warren, Shelley A. Cole, Stanton B. Gray

المصدر: Science

مصطلحات موضوعية: Whole genome sequencing, Multidisciplinary, Genome, Contig, Whole Genome Sequencing, Genetic Variation, Molecular Sequence Annotation, Computational biology, Biology, biology.organism_classification, Macaca mulatta, Polymorphism, Single Nucleotide, Article, Rhesus macaque, Gene family, Animals, Humans, Genetic Predisposition to Disease, Indel, Reference genome, Segmental duplication

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4986bfef80c6025ffb326a061e5304a7
https://europepmc.org/articles/PMC7818670/

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e84b62a868220b1a2eb6d63ead72005
https://doi.org/10.1101/2020.09.08.285395

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06d2142a3358f078ca48782aac70917c
https://pubmed.ncbi.nlm.nih.gov/33828295

المؤلفون: David Porubsky, Gulhan Kaya, Ruta Sahasrabudhe, James C. Mullikin, Joel Armstrong, Amy B. Wilfert, Jonathan Wood, Edmund Howe, Ariel Gershman, Amalia Dutra, Jon Matthew Belton, Alexander M. Chang, Karen H. Miga, Valerie A. Schneider, Adam M. Phillippy, Alice Young, Andrey Bzikadze, Tamara A. Potapova, Rosa Ana Risques, Anthony D. Schmitt, Tina A. Graves Lindsay, Gerard G. Bouffard, Nancy F. Hansen, Benedict Paten, Josh Quick, Ira M. Hall, Glennis A. Logsdon, Sergey Koren, Kristof Tigyi, Nadine Holmes, Daniela C. Soto, Beth A. Sullivan, Jeanne Fredrickson, Robert S. Fulton, Siddarth Selvaraj, Milinn Kremitzki, Winston Timp, Nicholas J. Loman, Arang Rhie, Evan E. Eichler, Megan Y. Dennis, Kerstin Howe, Jennifer L. Gerton, Urvashi Surti, Valerie Maduro, Christopher Markovic, Pavel A. Pevzner, Françoise Thibaud-Nissen, William Chow, Shelise Brooks, Evgenia Pak, Matthew Loose, Mitchell R. Vollger

المصدر: Nature, vol 585, iss 7823
Nature

مصطلحات موضوعية: Male, General Science & Technology, Pseudoautosomal region, Centromere, Computational biology, DNA, Satellite, Biology, Genome informatics, Genome, DNA sequencing, Article, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genome assembly algorithms, Testis, Genetics, Humans, Telomere assembly, X chromosome, 030304 developmental biology, Segmental duplication, 0303 health sciences, Chromosomes, Human, X, Multidisciplinary, Genome, Human, Human Genome, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Sequence Analysis, DNA, Hydatidiform Mole, DNA, Telomere, DNA Methylation, Human genetics, Satellite, Human genome, CpG Islands, Female, Nanopore sequencing, Generic health relevance, 030217 neurology & neurosurgery, Reference genome, Biotechnology, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b763e6dc69f68a2c414f6d2d8a9e4a86
https://escholarship.org/uc/item/88w7j3n7

المؤلفون: Jennifer F, Hughes, Helen, Skaletsky, Tatyana, Pyntikova, Natalia, Koutseva, Terje, Raudsepp, Laura G, Brown, Daniel W, Bellott, Ting-Jan, Cho, Shannon, Dugan-Rocha, Ziad, Khan, Colin, Kremitzki, Catrina, Fronick, Tina A, Graves-Lindsay, Lucinda, Fulton, Wesley C, Warren, Richard K, Wilson, Elaine, Owens, James E, Womack, William J, Murphy, Donna M, Muzny, Kim C, Worley, Bhanu P, Chowdhary, Richard A, Gibbs, David C, Page

المصدر: Genome Res

مصطلحات موضوعية: Male, X Chromosome, Research, Gene Amplification, Sequence Analysis, DNA, Evolution, Molecular, Mice, Organ Specificity, Y Chromosome, Testis, Animals, Humans, Cattle, Cell Lineage, Female, Crossing Over, Genetic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6834ccf44df4357639c19d3ce4a54b3d
https://pubmed.ncbi.nlm.nih.gov/33208454

المؤلفون: Rachel L. Moran, Estephany Ferrufino, Alexander Kenzior, Madeleine E. Lemieux, Johanna E. Kowalko, R. Peuss, Y. Yoshiyuki, Nicolas Rohner, Misty R. Riddle, Sunishka Thakur, Itzel Sifuentes-Romero, Clifford J. Tabin, Welsey C Warren, Suzanne E. McGaugh, Tina A. Graves-Lindsay, Zhiyuan Hu, Joshua B. Gross, Jeffrey T. Miller, Richard Borowsky, L. Hiller, Edward S. Rice, Milinn Kremitzki, Brian M. Carlson, Mathilda T.M. Mommersteeg, Alex C. Keene, Tyler E. Boggs, Chad Tomlinson, Bethany A. Stanhope

مصطلحات موضوعية: Candidate gene, Evolutionary biology, Trait, Cavefish, Chromosome, Biology, Adaptation, Quantitative trait locus, Genome, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bffe69c40fc3371eb4fc89abb8d4014a
https://doi.org/10.1101/2020.07.06.189654

المؤلفون: Evan E. Eichler, Richard K. Wilson, Vy Dang, Anne Marie E. Welch, Max L. Dougherty, Tina A. Graves-Lindsay, Philip C. Dishuck, Melanie Sorensen, Mark Chaisson, Mitchell R. Vollger

المصدر: Nature methods

مصطلحات موضوعية: Oxford Nanopore Technologies (ONT), Sequence analysis, segmental duplication, long-read, Computational biology, Biology, Biochemistry, Genome, Article, 03 medical and health sciences, Segmental Duplications, Genomic, Humans, Molecular Biology, 030304 developmental biology, Sequence (medicine), Segmental duplication, PacBio sequencing, 0303 health sciences, Genome, Human, gene duplication, Computational Biology, Molecular Sequence Annotation, Sequence Analysis, DNA, Cell Biology, Gene Annotation, real-time (SMRT) sequence, Human genome, single-molecule, Biotechnology, Reference genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad9b57e90ff4f812c7ebad34ccb5a7bc
https://doi.org/10.1038/s41592-018-0236-3

المؤلفون: Valerie A. Schneider, Adam M. Phillippy, Chen-Shan Chin, Glen Threadgold, Deanna M. Church, Sergey Koren, Jared T. Simpson, Evan E. Eichler, Chris Markovic, Matthew Boitano, Milinn Kremitzki, William Chow, Jonathan Wood, Kate Auger, Tim Hubbard, Françoise Thibaud-Nissen, Richard Durbin, Karyn Meltz Steinberg, Terence Murphy, Heng Li, Joanna Collins, Kerstin Howe, Laura Clarke, Paul Flicek, Glenn Harden, Richard K. Wilson, Nathan Bouk, Paul Kitts, James Torrance, Kim D. Pruitt, Hsiu-Chuan Chen, Robert S. Fulton, Paul Peluso, Sarah Pelan, Sean McGrath, Vincent Magrini, Tina A. Graves-Lindsay, Derek Albracht

المصدر: Genome Research. 27:849-864

مصطلحات موضوعية: Resource, 0301 basic medicine, Sequence analysis, Genomics, Computational biology, Haploidy, Biology, Genome, Contig Mapping, 03 medical and health sciences, Annotation, Genetics, Humans, Genetics (clinical), Sequence (medicine), Polymorphism, Genetic, Genome, Human, Sequence Analysis, DNA, Reference Standards, 030104 developmental biology, Haplotypes, Human genome, Software, Reference genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fc8b3738169c24f6928cef473f32ede
https://doi.org/10.1101/gr.213611.116

المؤلفون: Evan E. Eichler, Kendra Hoekzema, Matthew Boitano, Katherine M. Munson, Tina A. Graves-Lindsay, Zev N. Kronenberg, Mark Chaisson, Chen-Shin Chin, Karyn Meltz Steinberg, Paul Peluso, David Gordon, Wes Warren, Richard K. Wilson, Laura Vives, Jonas Korlach, John Huddleston

المصدر: Genome Research. 27:677-685

مصطلحات موضوعية: 0301 basic medicine, Genetics, education.field_of_study, Genome, Human, Population, Genomic Structural Variation, Sequence Analysis, DNA, Haploidy, Biology, Genome, Structural variation, Contig Mapping, 03 medical and health sciences, 030104 developmental biology, Human Genome Project, Humans, Human genome, 1000 Genomes Project, Corrigendum, education, Genotyping, Genetics (clinical), Reference genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aded1309b740a9e37d8dcb66ff0450a4
https://doi.org/10.1101/gr.214007.116

المؤلفون: Dustin Baldridge, F. Sessions Cole, Tina A. Graves Lindsay, Robert S. Fulton, Eleanor I Sams, Jeffrey K. Ng, Milinn Kremitzki, Daniel J. Wegner, Tychele N. Turner

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: hemivertebrae, butterfly vertebrae, Karyotype, autism, Translocation Breakpoint, Genomics, Chromosome 9, Computational biology, Biology, Genome, Translocation, Genetic, Chromosome Breakpoints, Loss of Function Mutation, Chromosome Duplication, Gene duplication, Humans, Child, Loss function, Chromosome 13, Comparative Genomic Hybridization, superior mesenteric artery aneurysm, Breakpoint, Chromosome Mapping, Research Reports, Sequence Analysis, DNA, General Medicine, congenital sensorineural hearing impairment, profound global developmental delay, Phenotype, Female, Chromosome Deletion, Chromosomes, Human, Pair 9

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013d98665e5c9609532db159afd9513c
https://doi.org/10.1101/mcs.a005348

المؤلفون: Melanie Sorensen, Andrea J. Richardson, Robyn H. Guymer, John Huddleston, Kelsi Penewit, Katherine M. Munson, Rando Allikmets, Felix Grassmann, Vy Dang, Tina A. Graves-Lindsay, Bernhard H. F. Weber, Bradley J. Nelson, Anne Marie E. Welch, Carl Baker, Stuart Cantsilieris, Paul N. Baird, Evan E. Eichler, Richard K. Wilson, Lana Harshman

المصدر: Proceedings of the National Academy of Sciences. 115

مصطلحات موضوعية: Primates, 0301 basic medicine, Nonsynonymous substitution, Genotype, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Evolution, Molecular, Macular Degeneration, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Gene duplication, Animals, Humans, Missense mutation, Gene family, Genetic Predisposition to Disease, Selection, Genetic, Gene, Genetics, Multidisciplinary, Haplotype, Exons, eye diseases, Phenotype, 030104 developmental biology, PNAS Plus, Haplotypes, Complement Factor H, Multigene Family, Factor H, Mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92f5876e1288874fbe49b67e6caf52aa
https://doi.org/10.1073/pnas.1717600115

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303a4bf8adee0d27a752e4b6594be6aa
https://pubmed.ncbi.nlm.nih.gov/30006623

المؤلفون: Karyn Meltz Steinberg, Deanna M. Church, Aleksandr Morgulis, Valerie K Schneider, Tina A. Graves-Lindsay, Sergey A Shiryayev, Robert S. Fulton, Richa Agarwala, Urvashi Surti, Wesley C. Warren, Richard K. Wilson, John Huddleston, Evan E. Eichler

المصدر: Genome Research. 24:2066-2076

مصطلحات موضوعية: Resource, Chromosomes, Artificial, Bacterial, Heterozygote, 0206 medical engineering, Sequence assembly, Genomics, Hybrid genome assembly, 02 engineering and technology, Computational biology, Biology, Polymorphism, Single Nucleotide, Genome, Structural variation, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Pregnancy, Genetics, Humans, 1000 Genomes Project, Genome Reference Consortium, Alleles, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Segmental duplication, 030304 developmental biology, 0303 health sciences, Contig, Genome, Human, Shotgun sequencing, Chromosome Mapping, Computational Biology, High-Throughput Nucleotide Sequencing, Hydatidiform Mole, Sequence Analysis, DNA, Haplotypes, GenBank, Female, Human genome, 020602 bioinformatics, 030217 neurology & neurosurgery, Reference genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::564cbe29adda42fd4167578da5fa4e79
https://doi.org/10.1101/gr.180893.114

المؤلفون: Karyn Meltz Steinberg, Laura Clarke, Hsiu-Chuan Chen, Derek Albracht, Kerstin Howe, Robert S. Fulton, Matthew Boitano, Jonathan Wood, Milinn Kremitzki, Adam M. Phillippy, William Chow, Terence Murphy, Paul Kitts, Deanna M. Church, Sergey Koren, Chen-Shan Chin, Sean McGrath, Sarah Pelan, Tim Hubbard, Nathan Bouk, Glen Threadgold, Kate Auger, Kim D. Pruitt, Heng Li, Richard K. Wilson, Glenn Harden, Vincent Magrini, Tina A. Graves-Lindsay, Françoise Thibaud-Nissen, Chris Markovic, Joanna Collins, Valerie A. Schneider, Jared T. Simpson, Paul Flicek, James Torrance, Richard Durbin

مصطلحات موضوعية: Genetics, 0303 health sciences, Word error rate, Genomics, Computational biology, Biology, Base (topology), 03 medical and health sciences, Annotation, 0302 clinical medicine, Path (graph theory), 030217 neurology & neurosurgery, 030304 developmental biology, Reference genome, Coding (social sciences), Sequence (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b04f6124e0254f15d6336b49183d540
https://doi.org/10.1101/072116

المؤلفون: Richard K. Wilson, Patrick Minx, Chris T. Amemiya, Joyce Tang, Archana Raja, Lana Harshman, Vincent Magrini, Tina A. Graves-Lindsay, Valerie A. Schneider, Carl Baker, Derek Albrecht, Evan E. Eichler, Deanna M. Church, Mark Chaisson, Karyn Meltz Steinberg, Sean McGrath, Milinn Kremitzki, LaDeana W. Hillier, Robert S. Fulton, Françoise Thibaud-Nissen, Nathan Bouk, Amy Ly, John Huddleston, Chad Tomlinson, Wesley C. Warren

مصطلحات موضوعية: Genetics, 0303 health sciences, Contig, Sequence assembly, Hybrid genome assembly, Computational biology, Biology, 03 medical and health sciences, 0302 clinical medicine, Genomic architecture, Human genome, 030217 neurology & neurosurgery, 030304 developmental biology, Segmental duplication

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6985b89d37dc432899e5bc6f2089256e

المؤلفون: Bradley J. Nelson, Susan K. Dutcher, AnneMarie E. Welch, Sean McGrath, Max L. Dougherty, Arvis Sulovari, Stuart Cantsilieris, Vincent Magrini, Yang I. Li, Peter A. Audano, Evan E. Eichler, Tina A. Graves-Lindsay, Ankeeta Shah, Wesley C. Warren, Richard K. Wilson, Melanie Sorensen

المصدر: Cell. 176:663-675.e19

مصطلحات موضوعية: Euchromatin, Minisatellite Repeats, Computational biology, Biology, Genome, Article, General Biochemistry, Genetics and Molecular Biology, Structural variation, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Humans, Allele, Genotyping, Alleles, 030304 developmental biology, Sequence (medicine), 0303 health sciences, Genome, Human, Genomics, Sequence Analysis, DNA, Variable number tandem repeat, Genomic Structural Variation, Human genome, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f451a73b784dfd6f88f2f906874e3b
https://doi.org/10.1016/j.cell.2018.12.019