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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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Assembly of 43 human Y chromosomes reveals extensive complexity and variation
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
Published in Nature (London) (14.09.2023)
Published in Nature (London) (14.09.2023)
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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., Hakonarson, Hakon
Published in Nature communications (14.01.2020)
Published in Nature communications (14.01.2020)
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, Jacques S., Katsanis, Nicholas
Published in Nature (London) (17.05.2012)
Published in Nature (London) (17.05.2012)
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ConsensuSV-ONT – A modern method for accurate structural variant calling
Pietryga, Antoni, Chiliński, Mateusz, Gadakh, Sachin, Plewczynski, Dariusz
Published in Scientific reports (17.05.2025)
Published in Scientific reports (17.05.2025)
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Interplay between large low-recombining regions and pseudo-overdominance in a plant genome
Salson, Marine, Duranton, Maud, Huynh, Stella, Mariac, Cédric, Tranchant-Dubreuil, Christine, Orjuela, Julie, Cubry, Philippe, Thuillet, Anne-Céline, Burgarella, Concetta, de Navascués, Miguel, Zekraouï, Leïla, Couderc, Marie, Arribat, Sandrine, Rodde, Nathalie, Barnaud, Adeline, Faye, Adama, Kane, Ndjido, Vigouroux, Yves, Berthouly-Salazar, Cécile
Published in Nature communications (12.07.2025)
Published in Nature communications (12.07.2025)
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Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder
Bergen, S E, O'Dushlaine, C T, Ripke, S, Lee, P H, Ruderfer, D M, Akterin, S, Moran, J L, Chambert, K D, Handsaker, R E, Backlund, L, Ösby, U, McCarroll, S, Landen, M, Scolnick, E M, Magnusson, P K E, Lichtenstein, P, Hultman, C M, Purcell, S M, Sklar, P, Sullivan, P F
Published in Molecular psychiatry (01.09.2012)
Published in Molecular psychiatry (01.09.2012)
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Obesity in adults with 22q11.2 deletion syndrome
Voll, Sarah L., Boot, Erik, Butcher, Nancy J., Cooper, Samantha, Heung, Tracy, Chow, Eva W.C., Silversides, Candice K., Bassett, Anne S.
Published in Genetics in medicine (01.02.2017)
Published in Genetics in medicine (01.02.2017)
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High rate of disease-related copy number variations in childhood onset schizophrenia
Ahn, K, Gotay, N, Andersen, T M, Anvari, A A, Gochman, P, Lee, Y, Sanders, S, Guha, S, Darvasi, A, Glessner, J T, Hakonarson, H, Lencz, T, State, M W, Shugart, Y Y, Rapoport, J L
Published in Molecular psychiatry (01.05.2014)
Published in Molecular psychiatry (01.05.2014)
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Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism
Gu, F, Chauhan, V, Kaur, K, Brown, W T, LaFauci, G, Wegiel, J, Chauhan, A
Published in Translational psychiatry (01.09.2013)
Published in Translational psychiatry (01.09.2013)
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The reference genome of Macropodus opercularis (the paradise fish)
Fodor, Erika, Okendo, Javan, Szabó, Nóra, Szabó, Kata, Czimer, Dávid, Tarján-Rácz, Anita, Szeverényi, Ildikó, Low, Bi Wei, Liew, Jia Huan, Koren, Sergey, Rhie, Arang, Orbán, László, Miklósi, Ádám, Varga, Máté, Burgess, Shawn M.
Published in Scientific data (25.05.2024)
Published in Scientific data (25.05.2024)
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Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder
Jarick, I, Volckmar, A-L, Pütter, C, Pechlivanis, S, Nguyen, T T, Dauvermann, M R, Beck, S, Albayrak, Ö, Scherag, S, Gilsbach, S, Cichon, S, Hoffmann, P, Degenhardt, F, Nöthen, M M, Schreiber, S, Wichmann, H-E, Jöckel, K-H, Heinrich, J, Tiesler, C M T, Faraone, S V, Walitza, S, Sinzig, J, Freitag, C, Meyer, J, Herpertz-Dahlmann, B, Lehmkuhl, G, Renner, T J, Warnke, A, Romanos, M, Lesch, K-P, Reif, A, Schimmelmann, B G, Hebebrand, J, Scherag, A, Hinney, A
Published in Molecular psychiatry (01.01.2014)
Published in Molecular psychiatry (01.01.2014)
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Prevalence of SHOX haploinsufficiency among short statured children
Marstrand-Joergensen, Maja Rou, Jensen, Rikke Beck, Aksglaede, Lise, Duno, Morten, Juul, Anders
Published in Pediatric research (01.02.2017)
Published in Pediatric research (01.02.2017)
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Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls
Kim, Junho, Shin, Jong-Yeon, Kim, Jong-Il, Seo, Jeong-Sun, Webster, Maree J., Lee, Doheon, Kim, Sanghyeon
Published in Scientific reports (22.01.2014)
Published in Scientific reports (22.01.2014)
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