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…
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…
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…
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…
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 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
Loading…
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)
Get full text
Journal Article
Loading…
Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan
Joshi, Peter K., Fischer, Krista, Schraut, Katharina E., Campbell, Harry, Esko, Tõnu, Wilson, James F.
Published in Nature communications (31.03.2016)
Published in Nature communications (31.03.2016)
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…
Characterizing the genetic basis of methylome diversity in histologically normal human lung tissue
Shi, Jianxin, Marconett, Crystal N., Duan, Jubao, Hyland, Paula L., Li, Peng, Wang, Zhaoming, Wheeler, William, Zhou, Beiyun, Campan, Mihaela, Lee, Diane S., Huang, Jing, Zhou, Weiyin, Triche, Tim, Amundadottir, Laufey, Warner, Andrew, Hutchinson, Amy, Chen, Po-Han, Chung, Brian S. I., Pesatori, Angela C., Consonni, Dario, Bertazzi, Pier Alberto, Bergen, Andrew W., Freedman, Mathew, Siegmund, Kimberly D., Berman, Benjamin P., Borok, Zea, Chatterjee, Nilanjan, Tucker, Margaret A., Caporaso, Neil E., Chanock, Stephen J., Laird-Offringa, Ite A., Landi, Maria Teresa
Published in Nature communications (27.02.2014)
Published in Nature communications (27.02.2014)
Get full text
Journal Article
Loading…
Moderation of Adult Depression by a Polymorphism in the FKBP5 Gene and Childhood Physical Abuse in the General Population
Appel, Katja, Schwahn, Christian, Mahler, Jessie, Schulz, Andrea, Spitzer, Carsten, Fenske, Kristin, Stender, Jan, Barnow, Sven, John, Ulrich, Teumer, Alexander, Biffar, Reiner, Nauck, Matthias, Völzke, Henry, Freyberger, Harald J, Grabe, Hans J
Published in Neuropsychopharmacology (01.09.2011)
Published in Neuropsychopharmacology (01.09.2011)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article