Loading…
Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott
Published in Genetics in medicine (01.10.2017)
Published in Genetics in medicine (01.10.2017)
Get full text
Journal Article
Loading…
The genetic architecture of type 2 diabetes
Gaulton, Kyle J., McCarthy, Davis J., Sim, Xueling, Rayner, N. William, Cingolani, Pablo, Hartl, Christopher, Pearson, Richard D., Grarup, Niels, Chen, Yuhui, Chen, Peng, Go, Min Jin, Parker, Stephen C. J., Varga, Tibor V., Hu, Cheng, Kim, Bong-Jo, Kim, Yongkang, Kim, Young Jin, Maxwell, Taylor J., Nagai, Yoshihiko, Zhang, Weihua, Barzilai, Nir, Han, Bok-Ghee, Stančáková, Alena, Abboud, Hanna E., Boeing, Heiner, Prabhakaran, Dorairaj, Butterworth, Adam S., Lee, Heung Man, Kwak, Soo-Heon, Zhao, Wei, So, Wing Yee, Cheng, Ching-Yu, Curran, Joanne E., Freedman, Barry I., Kumar, Satish, van der Schouw, Yvonne T., Loh, Marie, Musani, Solomon K., Tan, Sian-Tsung, Taylor Jr, Herman A., Levy, Jonathan C., Mangino, Massimo, Bonnycastle, Lori L., Fadista, João, Surdulescu, Gabriela L., Herder, Christian, Groves, Christopher J., Brandslund, Ivan, Lyssenko, Valeriya, Hollensted, Mette, Jørgensen, Marit E., Ladenvall, Claes, Justesen, Johanne Marie, Linneberg, Allan, Qi, Qibin, Roden, Michael, Wood, Andrew R., Mihailov, Evelin, Maguire, Jared, Poplin, Ryan, Shakir, Khalid, Hrabé de Angelis, Martin, Jun, Goo, Murphy, Jacquelyn, Onofrio, Robert, Thorand, Barbara, Meisinger, Christa, Hu, Frank B., Peters, Annette, Rauramaa, Rainer, Salomaa, Veikko, Watanabe, Richard M., Bergman, Richard N., Bharadwaj, Dwaipayan, Chia, Kee Seng, Langenberg, Claudia, Elliott, Paul, Jablonski, Kathleen A., Ma, Ronald C. W., Tandon, Nikhil, Barroso, Inês, Zeggini, Eleftheria, Ried, Janina S., DeFronzo, Ralph A., Grallert, Harald, Banks, Eric, Trakalo, Joseph, Lind, Lars, Farjoun, Yossi, Owen, Katharine R., Gloyn, Anna L., Kooner, Jaspal Singh, Bowden, Donald W., Collins, Francis S., Atzmon, Gil, Hanis, Craig L., Seielstad, Mark, Frayling, Timothy M., Scott, Laura J., Altshuler, David
Published in Nature (London) (04.08.2016)
Published in Nature (London) (04.08.2016)
Get full text
Journal Article
Loading…
Evolutionary origin of genomic structural variations in domestic yaks
Liu, Xinfeng, Liu, Wenyu, Lenstra, Johannes A., Zheng, Zeyu, Wu, Xiaoyun, Yang, Jiao, Li, Bowen, Yang, Yongzhi, Qiu, Qiang, Liu, Hongyu, Li, Kexin, Liang, Chunnian, Guo, Xian, Ma, Xiaoming, Abbott, Richard J., Kang, Minghui, Yan, Ping, Liu, Jianquan
Published in Nature communications (19.09.2023)
Published in Nature communications (19.09.2023)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
Genomic variation landscape of the human gut microbiome
Schloissnig, Siegfried, Arumugam, Manimozhiyan, Sunagawa, Shinichi, Mitreva, Makedonka, Tap, Julien, Zhu, Ana, Waller, Alison, Mende, Daniel R., Kultima, Jens Roat, Martin, John, Kota, Karthik, Sunyaev, Shamil R., Weinstock, George M., Bork, Peer
Published in Nature (London) (03.01.2013)
Published in Nature (London) (03.01.2013)
Get full text
Journal Article
Loading…
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.
Published in Nature communications (12.04.2018)
Published in Nature communications (12.04.2018)
Get full text
Journal Article
Loading…
Low rates of mutation in clinical grade human pluripotent stem cells under different culture conditions
Thompson, Oliver, von Meyenn, Ferdinand, Hewitt, Zoe, Alexander, John, Wood, Andrew, Weightman, Richard, Gregory, Sian, Krueger, Felix, Andrews, Simon, Barbaric, Ivana, Gokhale, Paul J., Moore, Harry D., Reik, Wolf, Milo, Marta, Nik-Zainal, Serena, Yusa, Kosuke, Andrews, Peter W.
Published in Nature communications (23.03.2020)
Published in Nature communications (23.03.2020)
Get full text
Journal Article
Loading…
Charting histone modifications and the functional organization of mammalian genomes
Zhou, Vicky W., Goren, Alon, Bernstein, Bradley E.
Published in Nature reviews. Genetics (01.01.2011)
Published in Nature reviews. Genetics (01.01.2011)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
Multiple common variants for celiac disease influencing immune gene expression
Dubois, Patrick C A, Trynka, Gosia, Franke, Lude, Hunt, Karen A, Romanos, Jihane, Curtotti, Alessandra, Zhernakova, Alexandra, Heap, Graham A R, Ádány, Róza, Aromaa, Arpo, Bardella, Maria Teresa, van den Berg, Leonard H, Bockett, Nicholas A, de la Concha, Emilio G, Dema, Bárbara, Fehrmann, Rudolf S N, Fernández-Arquero, Miguel, Fiatal, Szilvia, Grandone, Elvira, Green, Peter M, Groen, Harry J M, Gwilliam, Rhian, Houwen, Roderick H J, Hunt, Sarah E, Kaukinen, Katri, Kelleher, Dermot, Korponay-Szabo, Ilma, Kurppa, Kalle, MacMathuna, Padraic, Mäki, Markku, Mazzilli, Maria Cristina, McCann, Owen T, Mearin, M Luisa, Mein, Charles A, Mirza, Muddassar M, Mistry, Vanisha, Mora, Barbara, Morley, Katherine I, Mulder, Chris J, Murray, Joseph A, Núñez, Concepción, Oosterom, Elvira, Ophoff, Roel A, Polanco, Isabel, Peltonen, Leena, Platteel, Mathieu, Rybak, Anna, Salomaa, Veikko, Schweizer, Joachim J, Sperandeo, Maria Pia, Tack, Greetje J, Turner, Graham, Veldink, Jan H, Verbeek, Wieke H M, Weersma, Rinse K, Wolters, Victorien M, Urcelay, Elena, Cukrowska, Bozena, Greco, Luigi, Neuhausen, Susan L, McManus, Ross, Barisani, Donatella, Deloukas, Panos, Barrett, Jeffrey C, Saavalainen, Paivi, Wijmenga, Cisca, van Heel, David A
Published in Nature genetics (01.04.2010)
Published in Nature genetics (01.04.2010)
Get full text
Journal Article
Loading…
Multi-resolution localization of causal variants across the genome
Sesia, Matteo, Katsevich, Eugene, Bates, Stephen, Candès, Emmanuel, Sabatti, Chiara
Published in Nature communications (27.02.2020)
Published in Nature communications (27.02.2020)
Get full text
Journal Article
Loading…
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins
Postmus, Iris, Trompet, Stella, Deshmukh, Harshal A., Barnes, Michael R., Li, Xiaohui, Warren, Helen R., Chasman, Daniel I., Zhou, Kaixin, Arsenault, Benoit J., Donnelly, Louise A., Wiggins, Kerri L., Avery, Christy L., Griffin, Paula, Feng, QiPing, Taylor, Kent D., Li, Guo, Evans, Daniel S., Smith, Albert V., de Keyser, Catherine E., Johnson, Andrew D., de Craen, Anton J. M., Buckley, Brendan M., Ford, Ian, Westendorp, Rudi G. J., Eline Slagboom, P., Sattar, Naveed, Munroe, Patricia B., Sever, Peter, Poulter, Neil, Stanton, Alice, Shields, Denis C., O’Brien, Eoin, Shaw-Hawkins, Sue, Ida Chen, Y.-D., Nickerson, Deborah A., Smith, Joshua D., Pierre Dubé, Marie, Matthijs Boekholdt, S., Kees Hovingh, G., Kastelein, John J. P., McKeigue, Paul M., Betteridge, John, Neil, Andrew, Durrington, Paul N., Doney, Alex, Carr, Fiona, Morris, Andrew, McCarthy, Mark I., Groop, Leif, Ahlqvist, Emma, Bis, Joshua C., Rice, Kenneth, Smith, Nicholas L., Lumley, Thomas, Whitsel, Eric A., Stürmer, Til, Boerwinkle, Eric, Ngwa, Julius S., O’Donnell, Christopher J., Wei, Wei-Qi, Wilke, Russell A., Liu, Ching-Ti, Sun, Fangui, Guo, Xiuqing, Heckbert, Susan R, Post, Wendy, Sotoodehnia, Nona, Arnold, Alice M., Stafford, Jeanette M., Ding, Jingzhong, Herrington, David M., Kritchevsky, Stephen B., Eiriksdottir, Gudny, Launer, Leonore J., Harris, Tamara B., Chu, Audrey Y., Giulianini, Franco, MacFadyen, Jean G., Barratt, Bryan J., Nyberg, Fredrik, Stricker, Bruno H., Uitterlinden, André G., Hofman, Albert, Rivadeneira, Fernando, Emilsson, Valur, Franco, Oscar H., Ridker, Paul M., Gudnason, Vilmundur, Liu, Yongmei, Denny, Joshua C., Ballantyne, Christie M., Adrienne Cupples, L., Psaty, Bruce M., Palmer, Colin N. A., Tardif, Jean-Claude, Colhoun, Helen M., Hitman, Graham, Krauss, Ronald M., Wouter Jukema, J, Caulfield, Mark J.
Published in Nature communications (28.10.2014)
Published in Nature communications (28.10.2014)
Get full text
Journal Article
Loading…
Loading…
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)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects
Blauwendraat, Cornelis, Wilke, Carlo, Simón-Sánchez, Javier, Jansen, Iris E, Reifschneider, Anika, Capell, Anja, Haass, Christian, Castillo-Lizardo, Melissa, Biskup, Saskia, Maetzler, Walter, Rizzu, Patrizia, Heutink, Peter, Synofzik, Matthis
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
Get full text
Journal Article
Loading…
The genetics of situs inversus without primary ciliary dyskinesia
Postema, Merel C., Carrion-Castillo, Amaia, Fisher, Simon E., Vingerhoets, Guy, Francks, Clyde
Published in Scientific reports (28.02.2020)
Published in Scientific reports (28.02.2020)
Get full text
Journal Article