المؤلفون: Lorig-Roach, Ryan, Meredith, Melissa, Monlong, Jean, Jain, Miten, Olsen, Hugh E, McNulty, Brandy, Porubsky, David, Montague, Tessa G, Lucas, Julian K, Condon, Chris, Eizenga, Jordan M, Juul, Sissel, McKenzie, Sean K, Simmonds, Sara E, Park, Jimin, Asri, Mobin, Koren, Sergey, Eichler, Evan E, Axel, Richard, Martin, Bruce, Carnevali, Paolo, Miga, Karen H, Paten, Benedict

المصدر: Genome Research. 34(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Nanotechnology, Bioengineering, Human Genome, Biotechnology, 1.1 Normal biological development and functioning, Generic health relevance, Humans, Nanopores, Sequence Analysis, DNA, Nanopore Sequencing, High-Throughput Nucleotide Sequencing, Software, Genomics, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2127g96s
https://escholarship.org/content/qt2127g96s/qt2127g96s.pdf

المؤلفون: Vollger, Mitchell R, Dishuck, Philip C, Harvey, William T, DeWitt, William S, Guitart, Xavi, Goldberg, Michael E, Rozanski, Allison N, Lucas, Julian, Asri, Mobin, Munson, Katherine M, Lewis, Alexandra P, Hoekzema, Kendra, Logsdon, Glennis A, Porubsky, David, Paten, Benedict, Harris, Kelley, Hsieh, PingHsun, Eichler, Evan E

المصدر: Nature. 617(7960)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, 2.1 Biological and endogenous factors, Humans, Gene Conversion, Genome, Human, Mutation, Segmental Duplications, Genomic, Polymorphism, Single Nucleotide, Haplotypes, Exons, Cytosine, Guanine, CpG Islands, Human Pangenome Reference Consortium, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9rq1z7r1
https://escholarship.org/content/qt9rq1z7r1/qt9rq1z7r1.pdf

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

المصدر: Nature. 617(7960)

مصطلحات موضوعية: Biological Sciences, Genetics, 2.1 Biological and endogenous factors, 1.5 Resources and infrastructure (underpinning), Generic health relevance, Humans, Diploidy, Genome, Human, Haplotypes, Sequence Analysis, DNA, Genomics, Reference Standards, Cohort Studies, Alleles, Genetic Variation, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5hn600wf
https://escholarship.org/content/qt5hn600wf/qt5hn600wf.pdf

المؤلفون: Porubsky, David, Vollger, Mitchell R, Harvey, William T, Rozanski, Allison N, Ebert, Peter, Hickey, Glenn, Hasenfeld, Patrick, Sanders, Ashley D, Stober, Catherine, Consortium, Human Pangenome Reference, Korbel, Jan O, Paten, Benedict, Marschall, Tobias, Eichler, Evan E, Abel, Haley J, Antonacci-Fulton, Lucinda L, Asri, Mobin, Baid, Gunjan, Baker, Carl A, Belyaeva, Anastasiya, Billis, Konstantinos, Bourque, Guillaume, Buonaiuto, Silvia, Carroll, Andrew, Chaisson, Mark JP, Chang, Pi-Chuan, Chang, Xian H, Cheng, Haoyu, Chu, Justin, Cody, Sarah, Colonna, Vincenza, Cook, Daniel E, Cook-Deegan, Robert M, Cornejo, Omar E, Diekhans, Mark, Doerr, Daniel, Ebler, Jana, Eizenga, Jordan M, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L, Feng, Xiaowen, Fischer, Christian, Flicek, Paul, Formenti, Giulio, Frankish, Adam, Fulton, Robert S, Gao, Yan, Garg, Shilpa, Garrison, Erik, Garrison, Nanibaa’ A, Giron, Carlos Garcia, Green, Richard E, Groza, Cristian, Guarracino, Andrea, Haggerty, Leanne, Hall, Ira M, Haukness, Marina, Haussler, David, Heumos, Simon, Hoekzema, Kendra, Hourlier, Thibaut, Howe, Kerstin, Jain, Miten, Jarvis, Erich D, Ji, Hanlee P, Kenny, Eimear E, Koenig, Barbara A, Kolesnikov, Alexey, Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P, Li, Heng, Liao, Wen-Wei, Lu, Shuangjia, Lu, Tsung-Yu, Lucas, Julian K, Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, Markello, Charles, Martin, Fergal J, McCartney, Ann, McDaniel, Jennifer, Miga, Karen H, Mitchell, Matthew W, Monlong, Jean, Mountcastle, Jacquelyn, Munson, Katherine M, Mwaniki, Moses Njagi, Nattestad, Maria, Novak, Adam M, Nurk, Sergey

المصدر: Genome Research. 33(4)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Humans, DNA, Satellite, Polymorphism, Genetic, Haplotypes, Segmental Duplications, Genomic, Sequence Analysis, DNA, Human Pangenome Reference Consortium, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8k2708m7
https://escholarship.org/content/qt8k2708m7/qt8k2708m7.pdf

المؤلفون: Jarvis, Erich D, Formenti, Giulio, Rhie, Arang, Guarracino, Andrea, Yang, Chentao, Wood, Jonathan, Tracey, Alan, Thibaud-Nissen, Francoise, Vollger, Mitchell R, Porubsky, David, Cheng, Haoyu, Asri, Mobin, Logsdon, Glennis A, Carnevali, Paolo, Chaisson, Mark JP, Chin, Chen-Shan, Cody, Sarah, Collins, Joanna, Ebert, Peter, Escalona, Merly, Fedrigo, Olivier, Fulton, Robert S, Fulton, Lucinda L, Garg, Shilpa, Gerton, Jennifer L, Ghurye, Jay, Granat, Anastasiya, Green, Richard E, Harvey, William, Hasenfeld, Patrick, Hastie, Alex, Haukness, Marina, Jaeger, Erich B, Jain, Miten, Kirsche, Melanie, Kolmogorov, Mikhail, Korbel, Jan O, Koren, Sergey, Korlach, Jonas, Lee, Joyce, Li, Daofeng, Lindsay, Tina, Lucas, Julian, Luo, Feng, Marschall, Tobias, Mitchell, Matthew W, McDaniel, Jennifer, Nie, Fan, Olsen, Hugh E, Olson, Nathan D, Pesout, Trevor, Potapova, Tamara, Puiu, Daniela, Regier, Allison, Ruan, Jue, Salzberg, Steven L, Sanders, Ashley D, Schatz, Michael C, Schmitt, Anthony, Schneider, Valerie A, Selvaraj, Siddarth, Shafin, Kishwar, Shumate, Alaina, Stitziel, Nathan O, Stober, Catherine, Torrance, James, Wagner, Justin, Wang, Jianxin, Wenger, Aaron, Xiao, Chuanle, Zimin, Aleksey V, Zhang, Guojie, Wang, Ting, Li, Heng, Garrison, Erik, Haussler, David, Hall, Ira, Zook, Justin M, Eichler, Evan E, Phillippy, Adam M, Paten, Benedict, Howe, Kerstin, Miga, Karen H

المصدر: Nature. 611(7936)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Generic health relevance, Humans, Chromosome Mapping, Diploidy, Genome, Human, Haplotypes, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Reference Standards, Genomics, Chromosomes, Human, Genetic Variation, Human Pangenome Reference Consortium, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/69p7t34k
https://escholarship.org/content/qt69p7t34k/qt69p7t34k.pdf

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

المصدر: Science. 376(6588)

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

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4hh2h517
https://escholarship.org/content/qt4hh2h517/qt4hh2h517.pdf

المؤلفون: Henglin, Mir, Ghareghani, Maryam, Harvey, William T., Porubsky, David, Koren, Sergey, Eichler, Evan E., Ebert, Peter, Marschall, Tobias

مصطلحات موضوعية: De novo assembly, Phasing, Assembly graph, Haplotype, Strand-seq, Hi-C, Trio, Verkko, ddc:570

وصف الملف: 26 Seiten; application/pdf

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/45556
https://doi.org/10.17169/refubium-45268
https://doi.org/10.1186/s13059-024-03409-1

المؤلفون: Logsdon, Glennis A., Rozanski, Allison N., Ryabov, Fedor, Potapova, Tamara, Shepelev, Valery A., Catacchio, Claudia R., Porubsky, David, Mao, Yafei, Yoo, Dong Ahn, 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.

المساهمون: University of Helsinki, Institute for Molecular Medicine Finland

مصطلحات موضوعية: Biomedicine

وصف الملف: application/pdf

Relation: We thank the staff at Google for basecalling CHM1 PacBio circular consensus sequencing data with DeepConsensus; P. M. Lansdorp and D. C. J. Spierings for generating and sharing the CHM1 strand-seq data; P. Hsieh for assistance with phylogenetic analyses; V. Slon for providing space and resources for the α-satellite SF and strand orientation analysis with funding from the Genetic Society of America and the Gruber foundation; Z. Zhao for comments and suggestions on figures; and T. Brown for assistance in editing this manuscript. This research was supported in part by funding from the National Institutes of Health (NIH) National Human Genome Research Institute (NHGRI) R01 HG010169 (to E.E.E.); the National Institute of General Medical Sciences (NIGMS) K99 GM147352 (to G.A.L.); the National Cancer Institute (NCI) R01 CA266339 (to J.L.G.); the Intramural Research Program of the National Human Genome Research Institute (NHGRI) at NIH (to M.R., S.K., S.N. and A.M.P.); Shanghai Jiao Tong University 2030 Program WH510363001-7 (to Y.M.); and the Center for Integration in Science of the Ministry of Aliyah, Israel (to I.A.A.). This work used the computational resources of the NIH HPC Biowulf cluster ( https://hpc.nih.gov ). E.E.E. is an investigator of the Howard Hughes Medical Institute.; Logsdon , G A , Rozanski , A N , Ryabov , F , Potapova , T , Shepelev , V A , Catacchio , C R , Porubsky , D , Mao , Y , Yoo , D A , Rautiainen , M , Koren , S , Nurk , S , Lucas , J K , Hoekzema , K , Munson , K M , Gerton , J L , Phillippy , A M , Ventura , M , Alexandrov , I A & Eichler , E E 2024 , ' The variation and evolution of complete human centromeres ' , Nature , vol. 629 , no. 8010 , pp. 136-145 . https://doi.org/10.1038/s41586-024-07278-3; http://hdl.handle.net/10138/584363; e1a76de2-c9a7-4e5e-9aaa-6c4e22bbe93a; 85189337284; 001262373000017

الاتاحة: http://hdl.handle.net/10138/584363

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

المساهمون: National Institutes of Health, Howard Hughes Medical Institute, Oregon National Primate Research Center, National Natural Science Foundation of China, Shanghai Jiao Tong University

المصدر: Cell ; volume 187, issue 6, page 1547-1562.e13 ; ISSN 0092-8674

الاتاحة: http://dx.doi.org/10.1016/j.cell.2024.01.052
https://api.elsevier.com/content/article/PII:S0092867424001211?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0092867424001211?httpAccept=text/plain

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, 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

URL الوصول: https://escholarship.org/uc/item/4fw8b017
https://escholarship.org/content/qt4fw8b017/qt4fw8b017.pdf

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

المصدر: Nature. 585(7823)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Bioengineering, Human Genome, Nanotechnology, Centromere, Chromosomes, Human, X, CpG Islands, DNA Methylation, DNA, Satellite, Female, Genome, Human, Humans, Hydatidiform Mole, Male, Pregnancy, Reproducibility of Results, Telomere, Testis, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/88w7j3n7
https://escholarship.org/content/qt88w7j3n7/qt88w7j3n7.pdf

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

URL الوصول: https://escholarship.org/uc/item/84d5m24p
https://escholarship.org/content/qt84d5m24p/qt84d5m24p.pdf

المؤلفون: Chaisson, Mark JP, Sanders, Ashley D, Zhao, Xuefang, Malhotra, Ankit, Porubsky, David, Rausch, Tobias, Gardner, Eugene J, Rodriguez, Oscar L, Guo, Li, Collins, Ryan L, Fan, Xian, Wen, Jia, Handsaker, Robert E, Fairley, Susan, Kronenberg, Zev N, Kong, Xiangmeng, Hormozdiari, Fereydoun, Lee, Dillon, Wenger, Aaron M, Hastie, Alex R, Antaki, Danny, Anantharaman, Thomas, Audano, Peter A, Brand, Harrison, Cantsilieris, Stuart, Cao, Han, Cerveira, Eliza, Chen, Chong, Chen, Xintong, Chin, Chen-Shan, Chong, Zechen, Chuang, Nelson T, Lambert, Christine C, Church, Deanna M, Clarke, Laura, Farrell, Andrew, Flores, Joey, Galeev, Timur, Gorkin, David U, Gujral, Madhusudan, Guryev, Victor, Heaton, William Haynes, Korlach, Jonas, Kumar, Sushant, Kwon, Jee Young, Lam, Ernest T, Lee, Jong Eun, Lee, Joyce, Lee, Wan-Ping, Lee, Sau Peng, Li, Shantao, Marks, Patrick, Viaud-Martinez, Karine, Meiers, Sascha, Munson, Katherine M, Navarro, Fabio CP, Nelson, Bradley J, Nodzak, Conor, Noor, Amina, Kyriazopoulou-Panagiotopoulou, Sofia, Pang, Andy WC, Qiu, Yunjiang, Rosanio, Gabriel, Ryan, Mallory, Stütz, Adrian, Spierings, Diana CJ, Ward, Alistair, Welch, AnneMarie E, Xiao, Ming, Xu, Wei, Zhang, Chengsheng, Zhu, Qihui, Zheng-Bradley, Xiangqun, Lowy, Ernesto, Yakneen, Sergei, McCarroll, Steven, Jun, Goo, Ding, Li, Koh, Chong Lek, Ren, Bing, Flicek, Paul, Chen, Ken, Gerstein, Mark B, Kwok, Pui-Yan, Lansdorp, Peter M, Marth, Gabor T, Sebat, Jonathan, Shi, Xinghua, Bashir, Ali, Ye, Kai, Devine, Scott E, Talkowski, Michael E, Mills, Ryan E, Marschall, Tobias, Korbel, Jan O, Eichler, Evan E, Lee, Charles

المصدر: Nature communications. 10(1)

مصطلحات موضوعية: Humans, Chromosome Mapping, Genomics, Haplotypes, Genome, Human, Algorithms, Databases, Genetic, INDEL Mutation, Genomic Structural Variation, High-Throughput Nucleotide Sequencing, Whole Genome Sequencing, Genome, Human, Databases, Genetic

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/78k7g077

المؤلفون: Jeong, Hyobin, Grimes, Karen, Rauwolf, Kerstin K, Bruch, Peter-Martin, Rausch, Tobias, Hasenfeld, Patrick, Benito, Eva, Roider, Tobias, Sabarinathan, Radhakrishnan, Porubsky, David, Herbst, Sophie A, Erarslan-Uysal, Büşra, Jann, Johann-Christoph, Marschall, Tobias, Nowak, Daniel, Bourquin, Jean-Pierre, Kulozik, Andreas E, Dietrich, Sascha, Bornhauser, Beat, Sanders, Ashley D, Korbel, Jan O

المصدر: Jeong, Hyobin; Grimes, Karen; Rauwolf, Kerstin K; Bruch, Peter-Martin; Rausch, Tobias; Hasenfeld, Patrick; Benito, Eva; Roider, Tobias; Sabarinathan, Radhakrishnan; Porubsky, David; Herbst, Sophie A; Erarslan-Uysal, Büşra; Jann, Johann-Christoph; Marschall, Tobias; Nowak, Daniel; Bourquin, Jean-Pierre; Kulozik, Andreas E; Dietrich, Sascha; Bornhauser, Beat; Sanders, Ashley D; Korbel, Jan O (2023). Functional analysis of structural variants in single cells using Strand-seq. Nature Biotechnology, 41(6):832-844.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/224587/7/s41587_022_01551_4.pdf; https://www.zora.uzh.ch/id/eprint/224587/1/64933_2_merged_1665155414.pdf; info:pmid/36424487; urn:issn:1087-0156

الاتاحة: https://www.zora.uzh.ch/id/eprint/224587/
https://www.zora.uzh.ch/id/eprint/224587/7/s41587_022_01551_4.pdf
https://www.zora.uzh.ch/id/eprint/224587/1/64933_2_merged_1665155414.pdf

المؤلفون: Hallast, Pille, Ebert, Peter, Loftus, Mark, Yilmaz, Feyza, Audano, Peter A., Logsdon, Glennis A., Bonder, Marc Jan, Zhou, Weichen, Höps, Wolfram, Kim, Kwondo, Li, Chong, Hoyt, Savannah J., Dishuck, Philip C., Porubsky, David, Tsetsos, Fotios, Kwon, Jee Young, Zhu, Qihui, Munson, Katherine M., Hasenfeld, Patrick, Harvey, William T., Lewis, Alexandra P., Kordosky, Jennifer, Hoekzema, Kendra, O’Neill, Rachel J., Korbel, Jan O., Tyler-Smith, Chris, Eichler, Evan E., Shi, Xinghua, Beck, Christine R., Marschall, Tobias, Konkel, Miriam K., Lee, Charles

المصدر: Human Genome Structural Variation Consortium (HGSVC) , Hallast , P , Ebert , P , Loftus , M , Yilmaz , F , Audano , P A , Logsdon , G A , Bonder , M J , Zhou , W , Höps , W , Kim , K , Li , C , Hoyt , S J , Dishuck , P C , Porubsky , D , Tsetsos , F , Kwon , J Y , Zhu , Q , Munson , K M , Hasenfeld , P , Harvey , W T , Lewis , A P ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/5be160ce-90ad-4f0f-b729-388b6f212e80
https://research.rug.nl/en/publications/5be160ce-90ad-4f0f-b729-388b6f212e80
https://doi.org/10.1038/s41586-023-06425-6
https://pure.rug.nl/ws/files/834927910/s41586-023-06425-6.pdf
http://www.scopus.com/inward/record.url?scp=85168579739&partnerID=8YFLogxK

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

المصدر: Nature , 621 (7978) pp. 344-354. (2023)

مصطلحات موضوعية: Humans, Base Sequence, Chromosomes, Human, DNA, Satellite, Genetic Variation, Genetics, Population, Genomics, Heterochromatin, Multigene Family, Reference Standards, Segmental Duplications, Genomic, Sequence Analysis, Tandem Repeat Sequences, Telomere

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10178467/3/Mikheenko_T2T-HG002Y.pdf; https://discovery.ucl.ac.uk/id/eprint/10178467/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10178467/3/Mikheenko_T2T-HG002Y.pdf
https://discovery.ucl.ac.uk/id/eprint/10178467/

المؤلفون: Harvey, William T., Ebert, Peter, Ebler, Jana, Audano, Peter A., Munson, Katherine M., Hoekzema, Kendra, Porubsky, David, Beck, Christine R., Marschall, Tobias, Garimella, Kiran, Eichler, Evan E.

مصطلحات موضوعية: RESEARCH

وصف الملف: text/html

Relation: http://genome.cshlp.org/cgi/content/short/33/12/2029; http://dx.doi.org/10.1101/gr.278070.123

الاتاحة: http://genome.cshlp.org/cgi/content/short/33/12/2029
https://doi.org/10.1101/gr.278070.123

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

المصدر: Liao , W W , Asri , M , Ebler , J , Doerr , D , Haukness , M , Hickey , G , Lu , S , Lucas , J K , Monlong , J , Abel , H J , Buonaiuto , S , Chang , X H , Cheng , H , Chu , J , Colonna , V , Eizenga , J M , Feng , X , Fischer , C , Fulton , R S , Garg , S , Groza , C , Guarracino , A , Harvey , W T , ....

وصف الملف: application/pdf

Relation: https://orbit.dtu.dk/en/publications/e92cb361-4a71-475b-b84c-89f07cafc8e7

الاتاحة: https://orbit.dtu.dk/en/publications/e92cb361-4a71-475b-b84c-89f07cafc8e7
https://doi.org/10.1038/s41586-023-05896-x
https://backend.orbit.dtu.dk/ws/files/340674010/s41586-023-05896-x.pdf

المؤلفون: Porubsky, David, Harvey, William T., Rozanski, Allison N., Ebler, Jana, Höps, Wolfram, Ashraf, Hufsah, Hasenfeld, Patrick, Paten, Benedict, Sanders, Ashley D., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E.

المساهمون: National Institute of Health

المصدر: Genome Biology ; volume 24, issue 1 ; ISSN 1474-760X

الاتاحة: http://dx.doi.org/10.1186/s13059-023-02919-8
https://link.springer.com/content/pdf/10.1186/s13059-023-02919-8.pdf
https://link.springer.com/article/10.1186/s13059-023-02919-8/fulltext.html

المؤلفون: Lee, HoJoon, Greer, Stephanie U., Pavlichin, Dmitri S., Zhou, Bo, Urban, Alexander E., Weissman, Tsachy, Ji, Hanlee P., Liao, Wen-Wei, Asri, Mobin, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K., Monlong, Jean, Abel, Haley J., Buonaiuto, Silvia, Chang, Xian H., Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M., Feng, Xiaowen, Fischer, Christian, Fulton, Robert S., Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T., Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung-Yu, Markello, Charles, Martin, Fergal J., Mitchell, Matthew W., Munson, Katherine M., Mwaniki, Moses Njagi, Novak, Adam M., Olsen, Hugh E., Pesout, Trevor, Porubsky, David, Prins, Pjotr, Sibbesen, Jonas A., Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R., Antonacci-Fulton, Lucinda L., Baid, Gunjan

المصدر: Cell Reports Methods ; volume 3, issue 8, page 100543 ; ISSN 2667-2375

الاتاحة: http://dx.doi.org/10.1016/j.crmeth.2023.100543
https://api.elsevier.com/content/article/PII:S2667237523001807?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2667237523001807?httpAccept=text/plain