المؤلفون: Xianyong Yin, Lap Sum Chan, Debraj Bose, Anne U. Jackson, Peter VandeHaar, Adam E. Locke, Christian Fuchsberger, Heather M. Stringham, Ryan Welch, Ketian Yu, Lilian Fernandes Silva, Susan K. Service, Daiwei Zhang, Emily C. Hector, Erica Young, Liron Ganel, Indraniel Das, Haley Abel, Michael R. Erdos, Lori L. Bonnycastle, Johanna Kuusisto, Nathan O. Stitziel, Ira M. Hall, Gregory R. Wagner, FinnGen, Jian Kang, Jean Morrison, Charles F. Burant, Francis S. Collins, Samuli Ripatti, Aarno Palotie, Nelson B. Freimer, Karen L. Mohlke, Laura J. Scott, Xiaoquan Wen, Eric B. Fauman, Markku Laakso, Michael Boehnke

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/2bfc641ed38244daa7d87b37ef3b16fcTest

المؤلفون: Jiadong Lin, Xiaofei Yang, Walter Kosters, Tun Xu, Yanyan Jia, Songbo Wang, Qihui Zhu, Mallory Ryan, Li Guo, Chengsheng Zhang, Charles Lee, Scott E. Devine, Evan E. Eichler, Kai Ye, Mark B. Gerstein, Ashley D. Sanders, Micheal C. Zody, Michael E. Talkowski, Ryan E. Mills, Jan O. Korbel, Tobias Marschall, Peter Ebert, Peter A. Audano, Bernardo Rodriguez-Martin, David Porubsky, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, Tobias Rausch, Yu Chen, Zechen Chong, Katherine M. Munson, Mark J.P. Chaisson, Junjie Chen, Xinghua Shi, Aaron M. Wenger, William T. Harvey, Patrick Hansenfeld, Allison Regier, Ira M. Hall, Paul Flicek, Alex R. Hastie, Susan Fairely

المصدر: Genomics, Proteomics & Bioinformatics, Vol 20, Iss 1, Pp 205-218 (2022)

مصطلحات موضوعية: Next-generation sequencing, Complex structural variant, Pattern growth, Graph mining, Formation mechanism, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1672022921001431Test; https://doaj.org/toc/1672-0229Test

الوصول الحر: https://doaj.org/article/513b1cf5af894e5190b4427f8d55b1a7Test

المؤلفون: Liron Ganel, Lei Chen, Ryan Christ, Jagadish Vangipurapu, Erica Young, Indraniel Das, Krishna Kanchi, David Larson, Allison Regier, Haley Abel, Chul Joo Kang, Alexandra Scott, Aki Havulinna, Charleston W. K. Chiang, Susan Service, Nelson Freimer, Aarno Palotie, Samuli Ripatti, Johanna Kuusisto, Michael Boehnke, Markku Laakso, Adam Locke, Nathan O. Stitziel, Ira M. Hall

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-17 (2021)

مصطلحات موضوعية: Metabolic syndrome, Mitochondrial content, Human genetics, Human genome sequencing, Genome-wide association studies, Mendelian randomization, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/afd0fb03735e45e7af8157b2896c588cTest

المؤلفون: Michael C. Schatz, Anthony A. Philippakis, Enis Afgan, Eric Banks, Vincent J. Carey, Robert J. Carroll, Alessandro Culotti, Kyle Ellrott, Jeremy Goecks, Robert L. Grossman, Ira M. Hall, Kasper D. Hansen, Jonathan Lawson, Jeffrey T. Leek, Anne O’Donnell Luria, Stephen Mosher, Martin Morgan, Anton Nekrutenko, Brian D. O’Connor, Kevin Osborn, Benedict Paten, Candace Patterson, Frederick J. Tan, Casey Overby Taylor, Jennifer Vessio, Levi Waldron, Ting Wang, Kristin Wuichet, Alexander Baumann, Andrew Rula, Anton Kovalsy, Clare Bernard, Derek Caetano-Anollés, Geraldine A. Van der Auwera, Justin Canas, Kaan Yuksel, Kate Herman, M. Morgan Taylor, Marianie Simeon, Michael Baumann, Qi Wang, Robert Title, Ruchi Munshi, Sushma Chaluvadi, Valerie Reeves, William Disman, Salin Thomas, Allie Hajian, Elizabeth Kiernan, Namrata Gupta, Trish Vosburg, Ludwig Geistlinger, Marcel Ramos, Sehyun Oh, Dave Rogers, Frances McDade, Mim Hastie, Nitesh Turaga, Alexander Ostrovsky, Alexandru Mahmoud, Dannon Baker, Dave Clements, Katherine E.L. Cox, Keith Suderman, Nataliya Kucher, Sergey Golitsynskiy, Samantha Zarate, Sarah J. Wheelan, Kai Kammers, Ana Stevens, Carolyn Hutter, Christopher Wellington, Elena M. Ghanaim, Ken L. Wiley, Jr., Shurjo K. Sen, Valentina Di Francesco, Deni s Yuen, Brian Walsh, Luke Sargent, Vahid Jalili, John Chilton, Lori Shepherd, B.J. Stubbs, Ash O’Farrell, Benton A. Vizzier, Jr., Charles Overbeck, Charles Reid, David Charles Steinberg, Elizabeth A. Sheets, Julian Lucas, Lon Blauvelt, Louise Cabansay, Noah Warren, Brian Hannafious, Tim Harris, Radhika Reddy, Eric Torstenson, M. Katie Banasiewicz, Haley J. Abel, Jason Walker

المصدر: Cell Genomics, Vol 2, Iss 1, Pp 100085- (2022)

مصطلحات موضوعية: Genetics, QH426-470, Internal medicine, RC31-1245

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666979X21001063Test; https://doaj.org/toc/2666-979XTest

الوصول الحر: https://doaj.org/article/95ac1623e901491c821d128f529da364Test

المؤلفون: Allison A. Regier, Yossi Farjoun, David E. Larson, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan, Bo-Juen Chen, Manisha Kher, Eric Banks, Darren C. Ames, Adam C. English, Heng Li, Jinchuan Xing, Yeting Zhang, Tara Matise, Goncalo R. Abecasis, Will Salerno, Michael C. Zody, Benjamin M. Neale, Ira M. Hall

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/0ebc7f3c469f4ca081434ec64d244d5fTest

المؤلفون: Katherine Pfister, Justyna L. Pipka, Colby Chiang, Yunxian Liu, Royden A. Clark, Ray Keller, Paul Skoglund, Michael J. Guertin, Ira M. Hall, P. Todd Stukenberg

المصدر: Cell Reports, Vol 23, Iss 9, Pp 2758-2769 (2018)

مصطلحات موضوعية: aneuploidy, cancer, mitosis, MMB complex, TCGA, LOH, genomic instability, chromosome instability, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124718307009Test; https://doaj.org/toc/2211-1247Test

الوصول الحر: https://doaj.org/article/0f495ebe7d2f49058195f23bde14cdf0Test

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: Liron Ganel (10938177), Lei Chen (54296), Ryan Christ (10938180), Jagadish Vangipurapu (428170), Erica Young (10938183), Indraniel Das (767670), Krishna Kanchi (10938186), David Larson (3193590), Allison Regier (8410533), Haley Abel (3538874), Chul Joo Kang (10938189), Alexandra Scott (10938192), Aki Havulinna (250541), Charleston W. K. Chiang (10130766), Susan Service (150256), Nelson Freimer (102907), Aarno Palotie (41342), Samuli Ripatti (144251), Johanna Kuusisto (197767), Michael Boehnke (145750), Markku Laakso (197777), Adam Locke (7747952), Nathan O. Stitziel (7997081), Ira M. Hall (10938195)

مصطلحات موضوعية: Genetics, Metabolic syndrome, Mitochondrial content, Human genetics, Human genome sequencing, Genome-wide association studies, Mendelian randomization

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Mitochondrial_genome_copy_number_measured_by_DNA_sequencing_in_human_blood_is_strongly_associated_with_metabolic_traits_via_cell-type_composition_differences/14746815Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14746815.v1Test

المؤلفون: Liron Ganel (10938177), Lei Chen (54296), Ryan Christ (10938180), Jagadish Vangipurapu (428170), Erica Young (10938183), Indraniel Das (767670), Krishna Kanchi (10938186), David Larson (3193590), Allison Regier (8410533), Haley Abel (3538874), Chul Joo Kang (10938189), Alexandra Scott (10938192), Aki Havulinna (250541), Charleston W. K. Chiang (10130766), Susan Service (150256), Nelson Freimer (102907), Aarno Palotie (41342), Samuli Ripatti (144251), Johanna Kuusisto (197767), Michael Boehnke (145750), Markku Laakso (197777), Adam Locke (7747952), Nathan O. Stitziel (7997081), Ira M. Hall (10938195)

مصطلحات موضوعية: Genetics, Metabolic syndrome, Mitochondrial content, Human genetics, Human genome sequencing, Genome-wide association studies, Mendelian randomization

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Mitochondrial_genome_copy_number_measured_by_DNA_sequencing_in_human_blood_is_strongly_associated_with_metabolic_traits_via_cell-type_composition_differences/14746824Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14746824.v1Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a90349d97678f40cdb370a46304d2dTest
https://doi.org/10.1126/science.abj6987Test