Functional annotation of non-coding sequence variants

por Ritchie, Graham R. S., Dunham, Ian, Zeggini, Eleftheria, Flicek, Paul
Publicado 2014

The Ensembl Variant Effect Predictor

por McLaren, William, Gil, Laurent, Hunt, Sarah E., Riat, Harpreet Singh, Ritchie, Graham R. S., Thormann, Anja, Flicek, Paul, Cunningham, Fiona
Publicado 2016

The Ensembl REST API: Ensembl Data for Any Language

por Yates, Andrew, Beal, Kathryn, Keenan, Stephen, McLaren, William, Pignatelli, Miguel, Ritchie, Graham R. S., Ruffier, Magali, Taylor, Kieron, Vullo, Alessandro, Flicek, Paul
Publicado 2015

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

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

por Tachmazidou, Ioanna, Dedoussis, George, Southam, Lorraine, Farmaki, Aliki-Eleni, Ritchie, Graham R. S., Xifara, Dionysia K., Matchan, Angela, Hatzikotoulas, Konstantinos, Rayner, Nigel W., Chen, Yuan, Pollin, Toni I., O’Connell, Jeffrey R., Yerges-Armstrong, Laura M., Kiagiadaki, Chrysoula, Panoutsopoulou, Kalliope, Schwartzentruber, Jeremy, Moutsianas, Loukas, Tsafantakis, Emmanouil, Tyler-Smith, Chris, McVean, Gil, Xue, Yali, Zeggini, Eleftheria
Publicado 2013

Integrative epigenomics, transcriptomics and proteomics of patient chondrocytes reveal genes and pathways involved in osteoarthritis

por Steinberg, Julia, Ritchie, Graham R. S., Roumeliotis, Theodoros I., Jayasuriya, Raveen L., Clark, Matthew J., Brooks, Roger A., Binch, Abbie L. A., Shah, Karan M., Coyle, Rachael, Pardo, Mercedes, Le Maitre, Christine L., Ramos, Yolande F. M., Nelissen, Rob G. H. H., Meulenbelt, Ingrid, McCaskie, Andrew W., Choudhary, Jyoti S., Wilkinson, J. Mark, Zeggini, Eleftheria
Publicado 2017

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

por Panoutsopoulou, Kalliope, Hatzikotoulas, Konstantinos, Xifara, Dionysia Kiara, Colonna, Vincenza, Farmaki, Aliki-Eleni, Ritchie, Graham R. S., Southam, Lorraine, Gilly, Arthur, Tachmazidou, Ioanna, Fatumo, Segun, Matchan, Angela, Rayner, Nigel W., Ntalla, Ioanna, Mezzavilla, Massimo, Chen, Yuan, Kiagiadaki, Chrysoula, Zengini, Eleni, Mamakou, Vasiliki, Athanasiadis, Antonis, Giannakopoulou, Margarita, Kariakli, Vassiliki-Eirini, Nsubuga, Rebecca N., Karabarinde, Alex, Sandhu, Manjinder, McVean, Gil, Tyler-Smith, Chris, Tsafantakis, Emmanouil, Karaleftheri, Maria, Xue, Yali, Dedoussis, George, Zeggini, Eleftheria
Publicado 2014

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

The African Genome Variation Project shapes medical genetics in Africa

por Gurdasani, Deepti, Carstensen, Tommy, Tekola-Ayele, Fasil, Pagani, Luca, Tachmazidou, Ioanna, Hatzikotoulas, Konstantinos, Karthikeyan, Savita, Iles, Louise, Pollard, Martin O., Choudhury, Ananyo, Ritchie, Graham R. S., Xue, Yali, Asimit, Jennifer, Nsubuga, Rebecca N., Young, Elizabeth H., Pomilla, Cristina, Kivinen, Katja, Rockett, Kirk, Kamali, Anatoli, Doumatey, Ayo P., Asiki, Gershim, Seeley, Janet, Sisay-Joof, Fatoumatta, Jallow, Muminatou, Tollman, Stephen, Mekonnen, Ephrem, Ekong, Rosemary, Oljira, Tamiru, Bradman, Neil, Bojang, Kalifa, Ramsay, Michele, Adeyemo, Adebowale, Bekele, Endashaw, Motala, Ayesha, Norris, Shane A., Pirie, Fraser, Kaleebu, Pontiano, Kwiatkowski, Dominic, Tyler-Smith, Chris, Rotimi, Charles, Zeggini, Eleftheria, Sandhu, Manjinder S.
Publicado 2014

Ensembl 2011

por Flicek, Paul, Amode, M. Ridwan, Barrell, Daniel, Beal, Kathryn, Brent, Simon, Chen, Yuan, Clapham, Peter, Coates, Guy, Fairley, Susan, Fitzgerald, Stephen, Gordon, Leo, Hendrix, Maurice, Hourlier, Thibaut, Johnson, Nathan, Kähäri, Andreas, Keefe, Damian, Keenan, Stephen, Kinsella, Rhoda, Kokocinski, Felix, Kulesha, Eugene, Larsson, Pontus, Longden, Ian, McLaren, William, Overduin, Bert, Pritchard, Bethan, Riat, Harpreet Singh, Rios, Daniel, Ritchie, Graham R. S., Ruffier, Magali, Schuster, Michael, Sobral, Daniel, Spudich, Giulietta, Tang, Y. Amy, Trevanion, Stephen, Vandrovcova, Jana, Vilella, Albert J., White, Simon, Wilder, Steven P., Zadissa, Amonida, Zamora, Jorge, Aken, Bronwen L., Birney, Ewan, Cunningham, Fiona, Dunham, Ian, Durbin, Richard, Fernández-Suarez, Xosé M., Herrero, Javier, Hubbard, Tim J. P., Parker, Anne, Proctor, Glenn, Vogel, Jan, Searle, Stephen M. J.
Publicado 2011

Ensembl 2013

por Flicek, Paul, Ahmed, Ikhlak, Amode, M. Ridwan, Barrell, Daniel, Beal, Kathryn, Brent, Simon, Carvalho-Silva, Denise, Clapham, Peter, Coates, Guy, Fairley, Susan, Fitzgerald, Stephen, Gil, Laurent, García-Girón, Carlos, Gordon, Leo, Hourlier, Thibaut, Hunt, Sarah, Juettemann, Thomas, Kähäri, Andreas K., Keenan, Stephen, Komorowska, Monika, Kulesha, Eugene, Longden, Ian, Maurel, Thomas, McLaren, William M., Muffato, Matthieu, Nag, Rishi, Overduin, Bert, Pignatelli, Miguel, Pritchard, Bethan, Pritchard, Emily, Riat, Harpreet Singh, Ritchie, Graham R. S., Ruffier, Magali, Schuster, Michael, Sheppard, Daniel, Sobral, Daniel, Taylor, Kieron, Thormann, Anja, Trevanion, Stephen, White, Simon, Wilder, Steven P., Aken, Bronwen L., Birney, Ewan, Cunningham, Fiona, Dunham, Ian, Harrow, Jennifer, Herrero, Javier, Hubbard, Tim J. P., Johnson, Nathan, Kinsella, Rhoda, Parker, Anne, Spudich, Giulietta, Yates, Andy, Zadissa, Amonida, Searle, Stephen M. J.
Publicado 2013

Ensembl 2012

por Flicek, Paul, Amode, M. Ridwan, Barrell, Daniel, Beal, Kathryn, Brent, Simon, Carvalho-Silva, Denise, Clapham, Peter, Coates, Guy, Fairley, Susan, Fitzgerald, Stephen, Gil, Laurent, Gordon, Leo, Hendrix, Maurice, Hourlier, Thibaut, Johnson, Nathan, Kähäri, Andreas K., Keefe, Damian, Keenan, Stephen, Kinsella, Rhoda, Komorowska, Monika, Koscielny, Gautier, Kulesha, Eugene, Larsson, Pontus, Longden, Ian, McLaren, William, Muffato, Matthieu, Overduin, Bert, Pignatelli, Miguel, Pritchard, Bethan, Riat, Harpreet Singh, Ritchie, Graham R. S., Ruffier, Magali, Schuster, Michael, Sobral, Daniel, Tang, Y. Amy, Taylor, Kieron, Trevanion, Stephen, Vandrovcova, Jana, White, Simon, Wilson, Mark, Wilder, Steven P., Aken, Bronwen L., Birney, Ewan, Cunningham, Fiona, Dunham, Ian, Durbin, Richard, Fernández-Suarez, Xosé M., Harrow, Jennifer, Herrero, Javier, Hubbard, Tim J. P., Parker, Anne, Proctor, Glenn, Spudich, Giulietta, Vogel, Jan, Yates, Andy, Zadissa, Amonida, Searle, Stephen M. J.
Publicado 2012

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