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

المصدر: Science. 370(6523)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, HIV/AIDS, Biotechnology, Animals, Genetic Predisposition to Disease, Genetic Variation, Genome, Humans, Macaca mulatta, Molecular Sequence Annotation, Polymorphism, Single Nucleotide, Whole Genome Sequencing, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4fw8b017Test

المؤلفون: Maggiolini, Flavia Angela Maria, Sanders, Ashley D, Shew, Colin James, Sulovari, Arvis, Mao, Yafei, Puig, Marta, Catacchio, Claudia Rita, Dellino, Maria, Palmisano, Donato, Mercuri, Ludovica, Bitonto, Miriana, Porubský, David, Cáceres, Mario, Eichler, Evan E, Ventura, Mario, Dennis, Megan Y, Korbel, Jan O, Antonacci, Francesca

المصدر: Genome Research. 30(11)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Neurodegenerative, Animals, Chromosome Breakpoints, Chromosome Inversion, Disease, Evolution, Molecular, Gene Expression Regulation, Genome, Genomics, Heterozygote, Humans, In Situ Hybridization, Fluorescence, Macaca mulatta, Recombination, Genetic, Sequence Analysis, DNA, Single-Cell Analysis, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4sk262rrTest

المؤلفون: Porubsky, David, Sanders, Ashley D, Höps, Wolfram, Hsieh, PingHsun, Sulovari, Arvis, Li, Ruiyang, Mercuri, Ludovica, Sorensen, Melanie, Murali, Shwetha C, Gordon, David, Cantsilieris, Stuart, Pollen, Alex A, Ventura, Mario, Antonacci, Francesca, Marschall, Tobias, Korbel, Jan O, Eichler, Evan E

المصدر: Nature Genetics. 52(8)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Biotechnology, Animals, Chromosome Inversion, Chromosomes, DNA Copy Number Variations, Evolution, Molecular, Female, Genome, Haplotypes, Hominidae, Humans, Male, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/84d5m24pTest

المؤلفون: Logsdon, Glennis A., Rozanski, Allison N., Ryabov, Fedor, Potapova, Tamara, Shepelev, Valery A., Catacchio, Claudia R., Porubsky, David, Mao, Yafei, Yoo, DongAhn, Rautiainen, Mikko, Koren, Sergey, Nurk, Sergey, Lucas, Julian K., Hoekzema, Kendra, Munson, Katherine M., Gerton, Jennifer L., Phillippy, Adam M., Ventura, Mario, Alexandrov, Ivan A., Eichler, Evan E.

المصدر: Nature; May2024, Vol. 629 Issue 8010, p136-145, 10p

المؤلفون: Kronenberg, Zev N, Fiddes, Ian T, Gordon, David, Murali, Shwetha, Cantsilieris, Stuart, Meyerson, Olivia S, Underwood, Jason G, Nelson, Bradley J, Chaisson, Mark JP, Dougherty, Max L, Munson, Katherine M, Hastie, Alex R, Diekhans, Mark, Hormozdiari, Fereydoun, Lorusso, Nicola, Hoekzema, Kendra, Qiu, Ruolan, Clark, Karen, Raja, Archana, Welch, AnneMarie E, Sorensen, Melanie, Baker, Carl, Fulton, Robert S, Armstrong, Joel, Graves-Lindsay, Tina A, Denli, Ahmet M, Hoppe, Emma R, Hsieh, PingHsun, Hill, Christopher M, Pang, Andy Wing Chun, Lee, Joyce, Lam, Ernest T, Dutcher, Susan K, Gage, Fred H, Warren, Wesley C, Shendure, Jay, Haussler, David, Schneider, Valerie A, Cao, Han, Ventura, Mario, Wilson, Richard K, Paten, Benedict, Pollen, Alex, Eichler, Evan E

المصدر: Science. 360(6393)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Stem Cell Research, Human Genome, Biotechnology, Aetiology, Underpinning research, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Generic health relevance, Animals, Contig Mapping, Evolution, Molecular, Genetic Variation, Genome, Human, Hominidae, Humans, Molecular Sequence Annotation, Sequence Analysis, DNA, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/85r7m549Test

المؤلفون: Dougherty, Max L, Nuttle, Xander, Penn, Osnat, Nelson, Bradley J, Huddleston, John, Baker, Carl, Harshman, Lana, Duyzend, Michael H, Ventura, Mario, Antonacci, Francesca, Sandstrom, Richard, Dennis, Megan Y, Eichler, Evan E

المصدر: Genome Biology. 18(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Stem Cell Research, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Chromosome Aberrations, Chromosome Breakpoints, Chromosome Disorders, Chromosomes, Human, Pair 1, DNA Copy Number Variations, Evolution, Molecular, Gene Conversion, Gene Duplication, Gene Expression Profiling, Gene Fusion, Genetic Variation, Genetics, Population, Genomics, Humans, Neurons, Open Reading Frames, Organ Specificity, Phenotype, Selection, Genetic, Transcription, Genetic, Evolution, Segmental duplication, Duplicate genes, Gene fusion, Long-read sequencing, 1q21 microdeletion/microduplication syndrome, Environmental Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5bs9k7rfTest

المؤلفون: Eslami Rasekh, Marzieh, Chiatante, Giorgia, Miroballo, Mattia, Tang, Joyce, Ventura, Mario, Amemiya, Chris T, Eichler, Evan E, Antonacci, Francesca, Alkan, Can

المصدر: BMC Genomics. 18(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, Algorithms, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Sequence Inversion, Whole Genome Sequencing, Structural variation, Long range sequencing, Linked-reads, Inversion, Read clouds, Information and Computing Sciences, Medical and Health Sciences, Bioinformatics, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4p132135Test

المؤلفون: Raveane, Alessandro, Molinaro, Ludovica, Aneli, Serena, Capodiferro, Marco Rosario, de Gennaro, Luciana, Ongaro, Linda, Migliore, Nicola Rambaldi, Soffiati, Sara, Scarano, Teodoro, Torroni, Antonio, Achilli, Alessandro, Ventura, Mario, Pagani, Luca, Capelli, Cristian, Olivieri, Anna, Bertolini, Francesco, Semino, Ornella, Montinaro, Francesco

المساهمون: Raveane, Alessandro, Molinaro, Ludovica, Aneli, Serena, Capodiferro, Marco Rosario, de Gennaro, Luciana, Ongaro, Linda, Migliore, Nicola Rambaldi, Soffiati, Sara, Scarano, Teodoro, Torroni, Antonio, Achilli, Alessandro, Ventura, Mario, Pagani, Luca, Capelli, Cristian, Olivieri, Anna, Bertolini, Francesco, Semino, Ornella, Montinaro, Francesco

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35709925; info:eu-repo/semantics/altIdentifier/wos/WOS:000822558800002; volume:114; issue:4; firstpage:1; lastpage:12; numberofpages:12; journal:GENOMICS; https://hdl.handle.net/2318/1867900Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133802479

الإتاحة: https://doi.org/10.1016/j.ygeno.2022.110405Test
https://hdl.handle.net/2318/1867900Test

المؤلفون: Makova, Kateryna D., Pickett, Brandon D., Harris, Robert S., Hartley, Gabrielle A., Cechova, Monika, Pal, Karol, Nurk, Sergey, Yoo, DongAhn, Li, Qiuhui, Hebbar, Prajna, McGrath, Barbara C., Antonacci, Francesca, Aubel, Margaux, Biddanda, Arjun, Borchers, Matthew, Bornberg-Bauer, Erich, Bouffard, Gerard G., Brooks, Shelise Y., Carbone, Lucia, Carrel, Laura, Carroll, Andrew, Chang, Pi-Chuan, Chin, Chen-Shan, Cook, Daniel E., Craig, Sarah J. C., de Gennaro, Luciana, Diekhans, Mark, Dutra, Amalia, Garcia, Gage H., Grady, Patrick G. S., Green, Richard E., Haddad, Diana, Hallast, Pille, Harvey, William T., Hickey, Glenn, Hillis, David A., Hoyt, Savannah J., Jeong, Hyeonsoo, Kamali, Kaivan, Pond, Sergei L. Kosakovsky, LaPolice, Troy M., Lee, Charles, Lewis, Alexandra P., Loh, Yong-Hwee E., Masterson, Patrick, McGarvey, Kelly M., McCoy, Rajiv C., Medvedev, Paul, Miga, Karen H., Munson, Katherine M., Pak, Evgenia, Paten, Benedict, Pinto, Brendan J., Potapova, Tamara, Rhie, Arang, Rocha, Joana L., Ryabov, Fedor, Ryder, Oliver A., Sacco, Samuel, Shafin, Kishwar, Shepelev, Valery A., Slon, Viviane, Solar, Steven J., Storer, Jessica M., Sudmant, Peter H., Sweetalana, Sweeten, Alex, Tassia, Michael G., Thibaud-Nissen, Françoise, Ventura, Mario, Wilson, Melissa A., Young, Alice C., Zeng, Huiqing, Zhang, Xinru, Szpiech, Zachary A., Huber, Christian D., Gerton, Jennifer L., Yi, Soojin V., Schatz, Michael C., Alexandrov, Ivan A., Koren, Sergey, O’Neill, Rachel J., Eichler, Evan E., Phillippy, Adam M.

المصدر: Nature; June 2024, Vol. 630 Issue: 8016 p401-411, 11p

المؤلفون: Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H, Schraiber, Joshua G, Narvaiza, Iñigo, Sudmant, Peter H, Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly AF, Marchetto, Maria CN, Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, Penewit, Kelsi, Janke, Nicolette, Tang, W Joyce, Ventura, Mario, Banci, Lucia, Antonacci, Francesca, Akey, Joshua M, Amemiya, Chris T, Gage, Fred H, Reymond, Alexandre, Eichler, Evan E

المصدر: Nature. 536(7615)

مصطلحات موضوعية: Chromosomes, Human, Pair 16, Animals, Humans, Pan troglodytes, Chromosome Breakage, Genetic Predisposition to Disease, Iron, Proteins, Autistic Disorder, Evolution, Molecular, Species Specificity, Gene Duplication, Recombination, Genetic, Homeostasis, Time Factors, DNA Copy Number Variations, Pongo, Human Genome, Genetics, Biotechnology, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/84x6d03kTest