Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction von Frankish, Adam, Uszczynska, Barbara, Ritchie, Graham R S, Gonzalez, Jose M, Pervouchine, Dmitri, Petryszak, Robert, Mudge, Jonathan M, Fonseca, Nuno, Brazma, Alvis, Guigo, Roderic, Harrow, Jennifer

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Modernizing reference genome assemblies von 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, Eichler, Evan E, Weinstock, George, Mardis, Elaine R, Wilson, Richard K, Howe, Kerstin, Flicek, Paul, Hubbard, Tim

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

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Ensembl 2011 von 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

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Ensembl 2012 von 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.

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

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Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation von Gilly, Arthur, Ritchie, Graham Rs, Southam, Lorraine, Farmaki, Aliki-Eleni, Tsafantakis, Emmanouil, Dedoussis, George, Zeggini, Eleftheria

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Computational approaches to interpreting genomic sequence variation von Ritchie, Graham Rs, Flicek, Paul

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Improving the Sequence Ontology terminology for genomic variant annotation von Cunningham, Fiona, Moore, Barry, Ruiz-Schultz, Nicole, Ritchie, Graham Rs, Eilbeck, Karen

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

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

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The African Genome Variation Project shapes medical genetics in Africa von Gurdasani, Deepti, Carstensen, Tommy, Tekola-Ayele, Fasil, Pagani, Luca, Tachmazidou, Ioanna, Hatzikotoulas, Konstantinos, Karthikeyan, Savita, Iles, Louise, Pollard, Martin O, Choudhury, Ananyo, Ritchie, Graham RS, 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

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A genome-wide association study of anorexia nervosa von Boraska, Vesna, Franklin, Christopher S, Huckins, Laura M, Southam, Lorraine, Rayner, N William, Tachmazidou, Ioanna, Treasure, Janet, Kiezebrink, Kirsty, Gorwood, Philip, Adan, Roger AH, Kas, Martien JH, Favaro, Angela, Fernández-Aranda, Fernando, Rybakowski, Filip, Keski-Rahkonen, Anna, Van Furth, Eric F, Slof-Op t Landt, Margarita CT, Hudson, James I, Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S, Kaplan, Allan S, Karwautz, Andreas, Hakonarson, Hakon, Ando, Tetsuya, Inoko, Hidetoshi, Esko, Tõnu, Fischer, Krista, O’Toole, Julie K, Taico, Chrysecolla, Davis, Oliver SP, Burghardt, Roland, de Zwaan, Martina, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Scherag, André, Boni, Claudette, Ramoz, Nicolas, Danner, Unna N, de Kovel, Carolien, Hendriks, Judith, van Elburg, Annemarie A, Bruson, Alice, Degortes, Daniela, Forzan, Monica, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Karhunen, Leila, Slagboom, P Eline, Tortorella, Alfonso, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Levitan, Robert D, Huemer, Julia, Merl, Elisabeth, Wagner, Gudrun, Lichtenstein, Paul, Cohen-Woods, Sarah, Farmer, Anne, Cichon, Sven, Giegling, Ina, Rujescu, Dan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A, Espeseth, Thomas, Lundervold, Astri, Steen, Vidar M, Le Hellard, Stephanie, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Aschauer, Harald, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Kalsi, Gursharan, Logan, Darren W, Barrett, Jeffrey C, Estivill, Xavier, Sullivan, Patrick F, Zeggini, Eleftheria

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Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa von 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, Stephen, Chen, Yuan, Ritchie, Graham RS, 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, George, Auer, Paul L, Kooperberg, Charles L, Reiner, Alexander P, Franceschini, Nora, Maher, Dermot P, 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, Rotimi, Charles, Kaleebu, Pontiano, Barroso, Ines, Sandhu, Manj S

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Integrative epigenomics, transcriptomics and proteomics of patient chondrocytes reveal genes and pathways involved in osteoarthritis von Steinberg, Julia, Ritchie, Graham RS, Roumeliotis, Theodoros I, Jayasuriya, Raveen L, Clark, Matthew J, Brooks, Roger A, Binch, Abbie LA, Shah, Karan M, Coyle, Rachael, Pardo, Mercedes, Le Maitre, Christine L, Ramos, Yolande FM, Nelissen, Rob GHH, Meulenbelt, Ingrid, McCaskie, Andrew W, Choudhary, Jyoti S, Wilkinson, J Mark, Zeggini, Eleftheria

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The African Genome Variation Project shapes medical genetics in Africa von Gurdasani, Deepti, Carstensen, Tommy, Tekola-Ayele, Fasil, Pagani, Luca, Tachmazidou, Ioanna, Hatzikotoulas, Konstantinos, Karthikeyan, Savita, Iles, Louise, Pollard, Martin O, Choudhury, Ananyo, Ritchie, Graham RS, 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

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