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An integrated map of structural variation in 2,504 human genomes
Sudmant, Peter H., Rausch, Tobias, Gardner, Eugene J., Handsaker, Robert E., Abyzov, Alexej, Huddleston, John, Zhang, Yan, Ye, Kai, Jun, Goo, Hsi-Yang Fritz, Markus, Konkel, Miriam K., Malhotra, Ankit, Stütz, Adrian M., Shi, Xinghua, Paolo Casale, Francesco, Chen, Jieming, Hormozdiari, Fereydoun, Dayama, Gargi, Chen, Ken, Malig, Maika, Chaisson, Mark J. P., Walter, Klaudia, Meiers, Sascha, Kashin, Seva, Garrison, Erik, Auton, Adam, Lam, Hugo Y. K., Jasmine Mu, Xinmeng, Alkan, Can, Antaki, Danny, Bae, Taejeong, Cerveira, Eliza, Chines, Peter, Chong, Zechen, Clarke, Laura, Dal, Elif, Ding, Li, Emery, Sarah, Fan, Xian, Gujral, Madhusudan, Kahveci, Fatma, Kidd, Jeffrey M., Kong, Yu, Lameijer, Eric-Wubbo, McCarthy, Shane, Flicek, Paul, Gibbs, Richard A., Marth, Gabor, Mason, Christopher E., Menelaou, Androniki, Muzny, Donna M., Nelson, Bradley J., Noor, Amina, Parrish, Nicholas F., Pendleton, Matthew, Quitadamo, Andrew, Raeder, Benjamin, Schadt, Eric E., Romanovitch, Mallory, Schlattl, Andreas, Sebra, Robert, Shabalin, Andrey A., Untergasser, Andreas, Walker, Jerilyn A., Wang, Min, Yu, Fuli, Zhang, Chengsheng, Zhang, Jing, Zheng-Bradley, Xiangqun, Zhou, Wanding, Zichner, Thomas, Sebat, Jonathan, Batzer, Mark A., McCarroll, Steven A., Mills, Ryan E., Gerstein, Mark B., Bashir, Ali, Stegle, Oliver, Devine, Scott E., Lee, Charles, Eichler, Evan E., Korbel, Jan O.
Published in Nature (London) (01.10.2015)
Published in Nature (London) (01.10.2015)
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Structural variation detection and association analysis of whole‐genome‐sequence data from 16,543 Alzheimer's disease sequencing project subjects
Wang, Hui, Dombroski, Beth A., Cheng, Po‐Liang, Tucci, Albert, Si, Ya‐Qin, Farrell, John J., Tzeng, Jung‐Ying, Leung, Yuk Yee, Malamon, John S., Wang, Li‐San, Vardarajan, Badri N., Farrer, Lindsay A., Schellenberg, Gerard D., Lee, Wan‐Ping
Published in Alzheimer's & dementia (01.06.2025)
Published in Alzheimer's & dementia (01.06.2025)
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Assessing structural variation in a personal genome—towards a human reference diploid genome
English, Adam C, Salerno, William J, Hampton, Oliver A, Gonzaga-Jauregui, Claudia, Ambreth, Shruthi, Ritter, Deborah I, Beck, Christine R, Davis, Caleb F, Dahdouli, Mahmoud, Ma, Singer, Carroll, Andrew, Veeraraghavan, Narayanan, Bruestle, Jeremy, Drees, Becky, Hastie, Alex, Lam, Ernest T, White, Simon, Mishra, Pamela, Wang, Min, Han, Yi, Zhang, Feng, Stankiewicz, Pawel, Wheeler, David A, Reid, Jeffrey G, Muzny, Donna M, Rogers, Jeffrey, Sabo, Aniko, Worley, Kim C, Lupski, James R, Boerwinkle, Eric, Gibbs, Richard A
Published in BMC genomics (11.04.2015)
Published in BMC genomics (11.04.2015)
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Rare structural variation of synapse and neurotransmission genes in autism
Gai, X, Xie, H M, Perin, J C, Takahashi, N, Murphy, K, Wenocur, A S, D'arcy, M, O'Hara, R J, Goldmuntz, E, Grice, D E, Shaikh, T H, Hakonarson, H, Buxbaum, J D, Elia, J, White, P S
Published in Molecular psychiatry (01.04.2012)
Published in Molecular psychiatry (01.04.2012)
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Characterization of the Poplar Pan-Genome by Genome-Wide Identification of Structural Variation
Pinosio, Sara, Giacomello, Stefania, Faivre-Rampant, Patricia, Taylor, Gail, Jorge, Veronique, Le Paslier, Marie Christine, Zaina, Giusi, Bastien, Catherine, Cattonaro, Federica, Marroni, Fabio, Morgante, Michele
Published in Molecular biology and evolution (01.10.2016)
Published in Molecular biology and evolution (01.10.2016)
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Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics
Dong, Zirui, Wang, Huilin, Chen, Haixiao, Jiang, Hui, Yuan, Jianying, Yang, Zhenjun, Wang, Wen-Jing, Xu, Fengping, Guo, Xiaosen, Cao, Ye, Zhu, Zhenzhen, Geng, Chunyu, Cheung, Wan Chee, Kwok, Yvonne K., Yang, Huanming, Leung, Tak Yeung, Morton, Cynthia C., Cheung, Sau Wai, Choy, Kwong Wai
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
Brand, Harrison, Collins, Ryan L., Hanscom, Carrie, Rosenfeld, Jill A., Pillalamarri, Vamsee, Stone, Matthew R., Kelley, Fontina, Mason, Tamara, Margolin, Lauren, Eggert, Stacey, Mitchell, Elyse, Hodge, Jennelle C., Gusella, James F., Sanders, Stephan J., Talkowski, Michael E.
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Optical Genome Mapping for Genome-Wide Structural Variation Analysis in Hematologic Malignancies: A Prospective Study Demonstrates Additional Findings Compared to Standard-of-Care (SOC) Cytogenomic Methods
Wicks, Stephen J., Younan, Marissa, Sahoo, Trilochan, Hauenstein, Jen, Mylavarapu, Anusha, Matthews, Beth, Hovanes, Karine, Naik, Meena, Ojha, Nishit, Panchal, Amey, Naik, Yesheswini, Arora, Rahul, Khushoo, Vishwadeep, Babu, Vasu, Dhakate, Nishad, Jain, Poonam, Jain, Punit, Babu, Govind, Rao, Sandeep, Jadhav, Sachin
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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A perturbative view of protein structural variation
Echave, Julián, Fernández, Francisco M.
Published in Proteins, structure, function, and bioinformatics (01.01.2010)
Published in Proteins, structure, function, and bioinformatics (01.01.2010)
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Copy number variation analysis in the great apes reveals species-specific patterns of structural variation
Gazave, Elodie, Darré, Fleur, Morcillo-Suarez, Carlos, Petit-Marty, Natalia, Carreño, Angel, Marigorta, Urko M., Ryder, Oliver A., Blancher, Antoine, Rocchi, Mariano, Bosch, Elena, Baker, Carl, Marquès-Bonet, Tomàs, Eichler, Evan E., Navarro, Arcadi
Published in Genome research (01.10.2011)
Published in Genome research (01.10.2011)
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Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children
Liu, Yichuan, Chang, Xiao, Qu, Huiqi, Glessner, Joseph, Tian, Lifeng, Li, Dong, Qiu, Haijun, Sleiman, Patrick M. A., Hakonarson, Hakon
Published in Scientific reports (17.09.2020)
Published in Scientific reports (17.09.2020)
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Associations of subclinical autistic-like traits with brain structural variation using diffusion tensor imaging and voxel-based morphometry
Schröder, Yvonne, Hohmann, Daniela Michelle, Meller, Tina, Evermann, Ulrika, Pfarr, Julia-Katharina, Jansen, Andreas, Kamp-Becker, Inge, Grezellschak, Sarah, Nenadić, Igor
Published in European psychiatry (2021)
Published in European psychiatry (2021)
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SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads
Hampton, Oliver A., English, Adam C., Wang, Mark, Salerno, William J., Liu, Yue, Muzny, Donna M., Han, Yi, Wheeler, David A., Worley, Kim C., Lupski, James R., Gibbs, Richard A.
Published in BMC genomics (03.10.2017)
Published in BMC genomics (03.10.2017)
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