Functional annotation of non-coding sequence variants

Autor Ritchie, Graham R. S., Dunham, Ian, Zeggini, Eleftheria, Flicek, Paul
Vydáno v Nat Methods (2014)

A Combined Functional Annotation Score for Non-Synonymous Variants

Autor Lopes, Margarida C., Joyce, Chris, Ritchie, Graham R.S., John, Sally L., Cunningham, Fiona, Asimit, Jennifer, Zeggini, Eleftheria
Vydáno 2012

The Ensembl Variant Effect Predictor

Autor McLaren, William, Gil, Laurent, Hunt, Sarah E., Riat, Harpreet Singh, Ritchie, Graham R. S., Thormann, Anja, Flicek, Paul, Cunningham, Fiona
Vydáno v Genome Biol (2016)

The Ensembl REST API: Ensembl Data for Any Language

Autor Yates, Andrew, Beal, Kathryn, Keenan, Stephen, McLaren, William, Pignatelli, Miguel, Ritchie, Graham R. S., Ruffier, Magali, Taylor, Kieron, Vullo, Alessandro, Flicek, Paul
Vydáno v Bioinformatics (2015)

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

Autor Iotchkova, Valentina, Ritchie, Graham R.S., Geihs, Matthias, Morganella, Sandro, Min, Josine L., Walter, Klaudia, Timpson, Nicholas John, Dunham, Ian, Birney, Ewan, Soranzo, Nicole
Vydáno v Nat Genet (2019)

Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes

Autor Ayub, Qasim, Moutsianas, Loukas, Chen, Yuan, Panoutsopoulou, Kalliope, Colonna, Vincenza, Pagani, Luca, Prokopenko, Inga, Ritchie, Graham R.S., Tyler-Smith, Chris, McCarthy, Mark I., Zeggini, Eleftheria, Xue, Yali
Vydáno 2014

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

Autor 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
Vydáno v Hum Mol Genet (2017)

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

Autor 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
Vydáno 2013

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

Autor 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
Vydáno v Sci Rep (2017)

Computational approaches to identify functional genetic variants in cancer genomes

Autor Gonzalez-Perez, Abel, Mustonen, Ville, Reva, Boris, Ritchie, Graham R.S., Creixell, Pau, Karchin, Rachel, Vazquez, Miguel, Fink, J. Lynn, Kassahn, Karin S., Pearson, John V., Bader, Gary, Boutros, Paul C., Muthuswamy, Lakshmi, Ouellette, B.F. Francis, Reimand, Jüri, Linding, Rune, Shibata, Tatsuhiro, Valencia, Alfonso, Butler, Adam, Dronov, Serge, Flicek, Paul, Shannon, Nick B., Carter, Hannah, Ding, Li, Sander, Chris, Stuart, Josh M., Stein, Lincoln D., Lopez-Bigas, Nuria
Vydáno 2013

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

Autor 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
Vydáno v Nat Commun (2014)

Modernizing Reference Genome Assemblies

Autor 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
Vydáno 2011

The African Genome Variation Project shapes medical genetics in Africa

Autor 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.
Vydáno v Nature (2014)

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

Autor Khurana, Ekta, Fu, Yao, Colonna, Vincenza, Mu, Xinmeng Jasmine, Kang, Hyun Min, Lappalainen, Tuuli, Sboner, Andrea, Lochovsky, Lucas, Chen, Jieming, Harmanci, Arif, Das, Jishnu, Abyzov, Alexej, Balasubramanian, Suganthi, Beal, Kathryn, Chakravarty, Dimple, Challis, Daniel, Chen, Yuan, Clarke, Declan, Clarke, Laura, Cunningham, Fiona, Evani, Uday S., Flicek, Paul, Fragoza, Robert, Garrison, Erik, Gibbs, Richard, Gümüş, Zeynep H., Herrero, Javier, Kitabayashi, Naoki, Kong, Yong, Lage, Kasper, Liluashvili, Vaja, Lipkin, Steven M., MacArthur, Daniel G., Marth, Gabor, Muzny, Donna, Pers, Tune H., Ritchie, Graham R. S., Rosenfeld, Jeffrey A., Sisu, Cristina, Wei, Xiaomu, Wilson, Michael, Xue, Yali, Yu, Fuli, Dermitzakis, Emmanouil T., Yu, Haiyuan, Rubin, Mark A., Tyler-Smith, Chris, Gerstein, Mark
Vydáno 2013

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Autor Poznik, G. David, Xue, Yali, Mendez, Fernando L., Willems, Thomas F., Massaia, Andrea, Wilson Sayres, Melissa A., Ayub, Qasim, McCarthy, Shane A., Narechania, Apurva, Kashin, Seva, Chen, Yuan, Banerjee, Ruby, Rodriguez-Flores, Juan L., Cerezo, Maria, Shao, Haojing, Gymrek, Melissa, Malhotra, Ankit, Louzada, Sandra, Desalle, Rob, Ritchie, Graham R. S., Cerveira, Eliza, Fitzgerald, Tomas W., Garrison, Erik, Marcketta, Anthony, Mittelman, David, Romanovitch, Mallory, Zhang, Chengsheng, Zheng-Bradley, Xiangqun, Abecasis, Goncalo R., McCarroll, Steven A., Flicek, Paul, Underhill, Peter A., Coin, Lachlan, Zerbino, Daniel R., Yang, Fengtang, Lee, Charles, Clarke, Laura, Auton, Adam, Erlich, Yaniv, Handsaker, Robert E., Bustamante, Carlos D., Tyler-Smith, Chris
Vydáno v Nat Genet (2016)

Ensembl 2011

Autor 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.
Vydáno 2011

Ensembl 2013

Autor 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.
Vydáno 2013

Ensembl 2012

Autor 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.
Vydáno 2012

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

Autor Gurdasani, Deepti, Carstensen, Tommy, Fatumo, Segun, Chen, Guanjie, Franklin, Chris S., Prado-Martinez, Javier, Bouman, Heleen, Abascal, Federico, Haber, Marc, Tachmazidou, Ioanna, Mathieson, Iain, Ekoru, Kenneth, DeGorter, Marianne K., Nsubuga, Rebecca N., Finan, Chris, Wheeler, Eleanor, Chen, Li, Cooper, David N., Schiffels, Stephan, Chen, Yuan, Ritchie, Graham R.S., Pollard, Martin O., Fortune, Mary D., Mentzer, Alex J., Garrison, Erik, Bergström, Anders, Hatzikotoulas, Konstantinos, Adeyemo, Adebowale, Doumatey, Ayo, Elding, Heather, Wain, Louise V., Ehret, Georg, Auer, Paul L., Kooperberg, Charles L., Reiner, Alexander P., Franceschini, Nora, Maher, Dermot, Montgomery, Stephen B., Kadie, Carl, Widmer, Chris, Xue, Yali, Seeley, Janet, Asiki, Gershim, Kamali, Anatoli, Young, Elizabeth H., Pomilla, Cristina, Soranzo, Nicole, Zeggini, Eleftheria, Pirie, Fraser, Morris, Andrew P., Heckerman, David, Tyler-Smith, Chris, Motala, Ayesha A., Rotimi, Charles, Kaleebu, Pontiano, Barroso, Inês, Sandhu, Manj S.
Vydáno v Cell (2019)

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

Autor 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
Vydáno v Am J Hum Genet (2017)