المؤلفون: Aganezov, Sergey, Yan, Stephanie M, Soto, Daniela C, Kirsche, Melanie, Zarate, Samantha, Avdeyev, Pavel, Taylor, Dylan J, Shafin, Kishwar, Shumate, Alaina, Xiao, Chunlin, Wagner, Justin, McDaniel, Jennifer, Olson, Nathan D, Sauria, Michael EG, Vollger, Mitchell R, Rhie, Arang, Meredith, Melissa, Martin, Skylar, Lee, Joyce, Koren, Sergey, Rosenfeld, Jeffrey A, Paten, Benedict, Layer, Ryan, Chin, Chen-Shan, Sedlazeck, Fritz J, Hansen, Nancy F, Miller, Danny E, Phillippy, Adam M, Miga, Karen H, McCoy, Rajiv C, Dennis, Megan Y, Zook, Justin M, Schatz, Michael C

المصدر: Science. 376(6588)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Genetic Variation, Genome, Human, Genomics, Humans, Reference Standards, Sequence Analysis, DNA, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/18c391ghTest
https://escholarship.org/content/qt18c391gh/qt18c391gh.pdfTest

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, Underpinning research, 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

الوصول الحر: https://escholarship.org/uc/item/4hh2h517Test
https://escholarship.org/content/qt4hh2h517/qt4hh2h517.pdfTest

المؤلفون: Xiang, Guanjue, He, Xi, Giardine, Belinda M, Isaac, Kathryn J, Taylor, Dylan J, McCoy, Rajiv C, Jansen, Camden, Keller, Cheryl A, Wixom, Alexander Q, Cockburn, April, Miller, Amber, Qi, Qian, He, Yanghua, Li, Yichao, Lichtenberg, Jens, Heuston, Elisabeth F, Anderson, Stacie M, Luan, Jing, Vermunt, Marit W, Yue, Feng, Sauria, Michael EG, Schatz, Michael C, Taylor, James, Göttgens, Berthold, Hughes, Jim R, Higgs, Douglas R, Weiss, Mitchell J, Cheng, Yong, Blobel, Gerd A, Bodine, David M, Zhang, Yu, Li, Qunhua, Mahony, Shaun, Hardison, Ross C

مصطلحات موضوعية: dimensional reduction, epigenetics, gene regulatory elements, regulatory potential

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/370131Test; https://doi.org/10.17863/CAM.109660Test

الإتاحة: https://doi.org/10.17863/CAM.109660Test
https://www.repository.cam.ac.uk/handle/1810/370131Test

المؤلفون: Ariad, Daniel, Madjunkova, Svetlana, Madjunkov, Mitko, Chen, Siwei, Abramov, Rina, Librach, Clifford, McCoy, Rajiv C.

مصطلحات موضوعية: METHODS

وصف الملف: text/html

العلاقة: http://genome.cshlp.org/cgi/content/short/34/1/70Test; http://dx.doi.org/10.1101/gr.278168.123Test

الإتاحة: https://doi.org/10.1101/gr.278168.123Test
http://genome.cshlp.org/cgi/content/short/34/1/70Test

المؤلفون: Hadyniak, Sarah E., Hagen, Joanna F. D., Eldred, Kiara C., Brenerman, Boris, Hussey, Katarzyna A., McCoy, Rajiv C., Sauria, Michael E. G., Kuchenbecker, James A., Reh, Thomas, Glass, Ian, Neitz, Maureen, Neitz, Jay, Taylor, James, Johnston, Robert J.

المساهمون: Baden, Tom, National Eye Institute, Howard Hughes Medical Institute, National Science Foundation, National Institute of General Medical Sciences, Research to Prevent Blindness, BrightFocus Foundation, Maryland Stem Cell Research Fund

المصدر: PLOS Biology ; volume 22, issue 1, page e3002464 ; ISSN 1545-7885

الإتاحة: https://doi.org/10.1371/journal.pbio.3002464Test

المؤلفون: Ariad, Daniel, Yan, Stephanie M., Victor, Andrea R., Barnes, Frank L., Zouves, Christo G., Viotti, Manuel, McCoy, Rajiv C.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Nov . 118(46), 1-12.

الوصول الحر: https://www.jstor.org/stable/27093915Test

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

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10178467/3/Mikheenko_T2T-HG002Y.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10178467Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10178467/3/Mikheenko_T2T-HG002Y.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10178467Test/

المؤلفون: McCoy, Rajiv C, Summers, Michael C., McCollin, Abeo, Ottolini, Christian S, Ahuja, Kamal, Handyside, Alan H

مصطلحات موضوعية: Q Science

وصف الملف: application/pdf

العلاقة: https://kar.kent.ac.uk/103187/1/article.pdfTest; McCoy, Rajiv C, Summers, Michael C., McCollin, Abeo, Ottolini, Christian S, Ahuja, Kamal, Handyside, Alan H (2023) Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos. Genome medicine, 15 (1). p. 77. ISSN 1756-994X. (doi:10.1186/s13073-023-01231-1 ) (KAR id:103187 )

الإتاحة: https://doi.org/10.1186/s13073-023-01231-1Test
https://kar.kent.ac.uk/103187Test/
https://kar.kent.ac.uk/103187/1/article.pdfTest

المؤلفون: Yang, Xiangyu, Wang, Xuankai, Zou, Yawen, Zhang, Shilong, Xia, Manying, Fu, Lianting, Vollger, Mitchell R., Chen, Nae-Chyun, Taylor, Dylan J., Harvey, William T., Logsdon, Glennis A., Meng, Dan, Shi, Junfeng, McCoy, Rajiv C., Schatz, Michael C., Li, Weidong, Eichler, Evan E., Lu, Qing, Mao, Yafei

المساهمون: Shanghai Pujiang Program, Shanghai Jiao Tong University 2030 Program, National Natural Science Foundation of China, Opening research fund from Shanghai Key Laboratory of Stomatology, Shanghai Ninth People’s Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, US National Institutes of Health (NIH) grant, NIGMS grants

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

الإتاحة: https://doi.org/10.1186/s13059-023-02995-wTest

المؤلفون: Sun, Siqi, Aboelenain, Mansour, Ariad, Daniel, Haywood, Mary E., Wageman, Charles R., Duke, Marlena, Bag, Aishee, Viotti, Manuel, Katz-Jaffe, Mandy, McCoy, Rajiv C., Schindler, Karen, Xing, Jinchuan

المساهمون: National Heart, Lung, and Blood Institute, National Institutes of Health, National Human Genome Research Institute, National Institute of Mental Health, National Cancer Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, National Institute on Drug Abuse, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: The American Journal of Human Genetics ; volume 110, issue 12, page 2092-2102 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.11.002Test
https://api.elsevier.com/content/article/PII:S000292972300397X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292972300397X?httpAccept=text/plainTest