Functional annotation of non-coding sequence variants

Por Ritchie, Graham R. S., Dunham, Ian, Zeggini, Eleftheria, Flicek, Paul
Publicado no Nat Methods (2014)

A Combined Functional Annotation Score for Non-Synonymous Variants

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

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 no Genome Biol (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 no Bioinformatics (2015)

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

Por Iotchkova, Valentina, Ritchie, Graham R.S., Geihs, Matthias, Morganella, Sandro, Min, Josine L., Walter, Klaudia, Timpson, Nicholas John, Dunham, Ian, Birney, Ewan, Soranzo, Nicole
Publicado no Nat Genet (2019)

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

Por 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
Publicado em 2014

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 no Hum Mol Genet (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 em 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 no Sci Rep (2017)

Computational approaches to identify functional genetic variants in cancer genomes

Por 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
Publicado em 2013

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 no Nat Commun (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 em 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 no Nature (2014)

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

Por 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
Publicado em 2013

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

Por 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
Publicado no Nat Genet (2016)

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 em 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 em 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 em 2012

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

Por 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.
Publicado no Cell (2019)

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 no Am J Hum Genet (2017)