Computational approaches to interpreting genomic sequence variation

por Ritchie, Graham RS, Flicek, Paul
Publicado 2014

Functional annotation of non-coding sequence variants

por Ritchie, Graham R. S., Dunham, Ian, Zeggini, Eleftheria, 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

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

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

Very low-depth whole-genome sequencing in complex trait association studies

por Gilly, Arthur, Southam, Lorraine, Suveges, Daniel, Kuchenbaecker, Karoline, Moore, Rachel, Melloni, Giorgio E M, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Ritchie, Graham, Schwartzentruber, Jeremy, Danecek, Petr, Kilian, Britt, Pollard, Martin O, Ge, Xiangyu, Tsafantakis, Emmanouil, Dedoussis, George, Zeggini, Eleftheria
Publicado 2019

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

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

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

por Xue, Yali, Mezzavilla, Massimo, Haber, Marc, McCarthy, Shane, Chen, Yuan, Narasimhan, Vagheesh, Gilly, Arthur, Ayub, Qasim, Colonna, Vincenza, Southam, Lorraine, Finan, Christopher, Massaia, Andrea, Chheda, Himanshu, Palta, Priit, Ritchie, Graham, Asimit, Jennifer, Dedoussis, George, Gasparini, Paolo, Palotie, Aarno, Ripatti, Samuli, Soranzo, Nicole, Toniolo, Daniela, Wilson, James F., Durbin, Richard, Tyler-Smith, Chris, Zeggini, Eleftheria
Publicado 2017

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