Computational approaches to interpreting genomic sequence variation

por Ritchie, Graham RS, Flicek, Paul
Publicado 2014

Improving the Sequence Ontology terminology for genomic variant annotation

por Cunningham, Fiona, Moore, Barry, Ruiz-Schultz, Nicole, Ritchie, Graham RS, Eilbeck, Karen
Publicado 2015

Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation

por Gilly, Arthur, Ritchie, Graham Rs, Southam, Lorraine, Farmaki, Aliki-Eleni, Tsafantakis, Emmanouil, Dedoussis, George, Zeggini, Eleftheria
Publicado 2016

Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

por Frankish, Adam, Uszczynska, Barbara, Ritchie, Graham RS, Gonzalez, Jose M, Pervouchine, Dmitri, Petryszak, Robert, Mudge, Jonathan M, Fonseca, Nuno, Brazma, Alvis, Guigo, Roderic, Harrow, Jennifer
Publicado 2015

Whole-exome sequencing in an isolated population from the Dalmatian island of Vis

por Jeroncic, Ana, Memari, Yasin, Ritchie, Graham RS, Hendricks, Audrey E, Kolb-Kokocinski, Anja, Matchan, Angela, Vitart, Veronique, Hayward, Caroline, Kolcic, Ivana, Glodzik, Dominik, Wright, Alan F, Rudan, Igor, Campbell, Harry, Durbin, Richard, Polašek, Ozren, Zeggini, Eleftheria, Boraska Perica, Vesna
Publicado 2016

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus

por Hackinger, Sophie, Trajanoska, Katerina, Styrkarsdottir, Unnur, Zengini, Eleni, Steinberg, Julia, Ritchie, Graham R.S., Hatzikotoulas, Konstantinos, Gilly, Arthur, Evangelou, Evangelos, Kemp, John P., Evans, David, Ingvarsson, Thorvaldur, Jonsson, Helgi, Thorsteinsdottir, Unnur, Stefansson, Kari, McCaskie, Andrew W., Brooks, Roger A., Wilkinson, Jeremy M., Rivadeneira, Fernando, Zeggini, Eleftheria
Publicado 2017

Modernizing Reference Genome Assemblies

por Church, Deanna M., Schneider, Valerie A., Graves, Tina, Auger, Katherine, Cunningham, Fiona, Bouk, Nathan, Chen, Hsiu-Chuan, Agarwala, Richa, McLaren, William M., Ritchie, Graham R.S., Albracht, Derek, Kremitzki, Milinn, Rock, Susan, Kotkiewicz, Holland, Kremitzki, Colin, Wollam, Aye, Trani, Lee, Fulton, Lucinda, Fulton, Robert, Matthews, Lucy, Whitehead, Siobhan, Chow, Will, Torrance, James, Dunn, Matthew, Harden, Glenn, Threadgold, Glen, Wood, Jonathan, Collins, Joanna, Heath, Paul, Griffiths, Guy, Pelan, Sarah, Grafham, Darren, E. Eichler, Evan, Weinstock, George, Mardis, Elaine R., Wilson, Richard K., Howe, Kerstin, Flicek, Paul, Hubbard, Tim
Publicado 2011

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

por Tachmazidou, Ioanna, Süveges, Dániel, Min, Josine L., Ritchie, Graham R.S., Steinberg, Julia, Walter, Klaudia, Iotchkova, Valentina, Schwartzentruber, Jeremy, Huang, Jie, Memari, Yasin, McCarthy, Shane, Crawford, Andrew A., Bombieri, Cristina, Cocca, Massimiliano, Farmaki, Aliki-Eleni, Gaunt, Tom R., Jousilahti, Pekka, Kooijman, Marjolein N., Lehne, Benjamin, Malerba, Giovanni, Männistö, Satu, Matchan, Angela, Medina-Gomez, Carolina, Metrustry, Sarah J., Nag, Abhishek, Ntalla, Ioanna, Paternoster, Lavinia, Rayner, Nigel W., Sala, Cinzia, Scott, William R., Shihab, Hashem A., Southam, Lorraine, St Pourcain, Beate, Traglia, Michela, Trajanoska, Katerina, Zaza, Gialuigi, Zhang, Weihua, Artigas, María S., Bansal, Narinder, Benn, Marianne, Chen, Zhongsheng, Danecek, Petr, Lin, Wei-Yu, Locke, Adam, Luan, Jian’an, Manning, Alisa K., Mulas, Antonella, Sidore, Carlo, Tybjaerg-Hansen, Anne, Varbo, Anette, Zoledziewska, Magdalena, Finan, Chris, Hatzikotoulas, Konstantinos, Hendricks, Audrey E., Kemp, John P., Moayyeri, Alireza, Panoutsopoulou, Kalliope, Szpak, Michal, Wilson, Scott G., Boehnke, Michael, Cucca, Francesco, Di Angelantonio, Emanuele, Langenberg, Claudia, Lindgren, Cecilia, McCarthy, Mark I., Morris, Andrew P., Nordestgaard, Børge G., Scott, Robert A., Tobin, Martin D., Wareham, Nicholas J., Burton, Paul, Chambers, John C., Smith, George Davey, Dedoussis, George, Felix, Janine F., Franco, Oscar H., Gambaro, Giovanni, Gasparini, Paolo, Hammond, Christopher J., Hofman, Albert, Jaddoe, Vincent W.V., Kleber, Marcus, Kooner, Jaspal S., Perola, Markus, Relton, Caroline, Ring, Susan M., Rivadeneira, Fernando, Salomaa, Veikko, Spector, Timothy D., Stegle, Oliver, Toniolo, Daniela, Uitterlinden, André G., Barroso, Inês, Greenwood, Celia M.T., Perry, John R.B., Walker, Brian R., Butterworth, Adam S., Xue, Yali, Durbin, Richard, Small, Kerrin S., Soranzo, Nicole, Timpson, Nicholas J., Zeggini, Eleftheria
Publicado 2017

Genome-wide meta-analysis of common variant differences between men and women

por Boraska, Vesna, Jerončić, Ana, Colonna, Vincenza, Southam, Lorraine, Nyholt, Dale R., William Rayner, Nigel, Perry, John R.B., Toniolo, Daniela, Albrecht, Eva, Ang, Wei, Bandinelli, Stefania, Barbalic, Maja, Barroso, Inês, Beckmann, Jacques S., Biffar, Reiner, Boomsma, Dorret, Campbell, Harry, Corre, Tanguy, Erdmann, Jeanette, Esko, Tõnu, Fischer, Krista, Franceschini, Nora, Frayling, Timothy M., Girotto, Giorgia, Gonzalez, Juan R., Harris, Tamara B., Heath, Andrew C., Heid, Iris M., Hoffmann, Wolfgang, Hofman, Albert, Horikoshi, Momoko, Hua Zhao, Jing, Jackson, Anne U., Hottenga, Jouke-Jan, Jula, Antti, Kähönen, Mika, Khaw, Kay-Tee, Kiemeney, Lambertus A., Klopp, Norman, Kutalik, Zoltán, Lagou, Vasiliki, Launer, Lenore J., Lehtimäki, Terho, Lemire, Mathieu, Lokki, Marja-Liisa, Loley, Christina, Luan, Jian'an, Mangino, Massimo, Mateo Leach, Irene, Medland, Sarah E., Mihailov, Evelin, Montgomery, Grant W., Navis, Gerjan, Newnham, John, Nieminen, Markku S., Palotie, Aarno, Panoutsopoulou, Kalliope, Peters, Annette, Pirastu, Nicola, Polašek, Ozren, Rehnström, Karola, Ripatti, Samuli, Ritchie, Graham R.S., Rivadeneira, Fernando, Robino, Antonietta, Samani, Nilesh J., Shin, So-Youn, Sinisalo, Juha, Smit, Johannes H., Soranzo, Nicole, Stolk, Lisette, Swinkels, Dorine W., Tanaka, Toshiko, Teumer, Alexander, Tönjes, Anke, Traglia, Michela, Tuomilehto, Jaakko, Valsesia, Armand, van Gilst, Wiek H., van Meurs, Joyce B.J., Smith, Albert Vernon, Viikari, Jorma, Vink, Jacqueline M., Waeber, Gerard, Warrington, Nicole M., Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Zanke, Brent W., Zgaga, Lina, Boehnke, Michael, d'Adamo, Adamo Pio, de Geus, Eco, Demerath, Ellen W., den Heijer, Martin, Eriksson, Johan G., Ferrucci, Luigi, Gieger, Christian, Gudnason, Vilmundur, Hayward, Caroline, Hengstenberg, Christian, Hudson, Thomas J., Järvelin, Marjo-Riitta, Kogevinas, Manolis, Loos, Ruth J.F., Martin, Nicholas G., Metspalu, Andres, Pennell, Craig E., Penninx, Brenda W., Perola, Markus, Raitakari, Olli, Salomaa, Veikko, Schreiber, Stefan, Schunkert, Heribert, Spector, Tim D., Stumvoll, Michael, Uitterlinden, André G., Ulivi, Sheila, van der Harst, Pim, Vollenweider, Peter, Völzke, Henry, Wareham, Nicholas J., Wichmann, H.-Erich, Wilson, James F., Rudan, Igor, Xue, Yali, Zeggini, Eleftheria
Publicado 2012