Open Targets Platform: supporting systematic drug–target identification and prioritisation von Ochoa, David, Hercules, Andrew, Carmona, Miguel, Suveges, Daniel, Gonzalez-Uriarte, Asier, Malangone, Cinzia, Miranda, Alfredo, Fumis, Luca, Carvalho-Silva, Denise, Spitzer, Michaela, Baker, Jarrod, Ferrer, Javier, Raies, Arwa, Razuvayevskaya, Olesya, Faulconbridge, Adam, Petsalaki, Eirini, Mutowo, Prudence, Machlitt-Northen, Sandra, Peat, Gareth, McAuley, Elaine, Ong, Chuang Kee, Mountjoy, Edward, Ghoussaini, Maya, Pierleoni, Andrea, Papa, Eliseo, Pignatelli, Miguel, Koscielny, Gautier, Karim, Mohd, Schwartzentruber, Jeremy, Hulcoop, David G, Dunham, Ian, McDonagh, Ellen M

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The next-generation Open Targets Platform: reimagined, redesigned, rebuilt von Ochoa, David, Hercules, Andrew, Carmona, Miguel, Suveges, Daniel, Baker, Jarrod, Malangone, Cinzia, Lopez, Irene, Miranda, Alfredo, Cruz-Castillo, Carlos, Fumis, Luca, Bernal-Llinares, Manuel, Tsukanov, Kirill, Cornu, Helena, Tsirigos, Konstantinos, Razuvayevskaya, Olesya, Buniello, Annalisa, Schwartzentruber, Jeremy, Karim, Mohd, Ariano, Bruno, Martinez Osorio, Ricardo Esteban, Ferrer, Javier, Ge, Xiangyu, Machlitt-Northen, Sandra, Gonzalez-Uriarte, Asier, Saha, Shyamasree, Tirunagari, Santosh, Mehta, Chintan, Roldán-Romero, Juan María, Horswell, Stuart, Young, Sarah, Ghoussaini, Maya, Hulcoop, David G, Dunham, Ian, McDonagh, Ellen M

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Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics von Ghoussaini, Maya, Mountjoy, Edward, Carmona, Miguel, Peat, Gareth, Schmidt, Ellen M, Hercules, Andrew, Fumis, Luca, Miranda, Alfredo, Carvalho-Silva, Denise, Buniello, Annalisa, Burdett, Tony, Hayhurst, James, Baker, Jarrod, Ferrer, Javier, Gonzalez-Uriarte, Asier, Jupp, Simon, Karim, Mohd Anisul, Koscielny, Gautier, Machlitt-Northen, Sandra, Malangone, Cinzia, Pendlington, Zoe May, Roncaglia, Paola, Suveges, Daniel, Wright, Daniel, Vrousgou, Olga, Papa, Eliseo, Parkinson, Helen, MacArthur, Jacqueline A L, Todd, John A, Barrett, Jeffrey C, Schwartzentruber, Jeremy, Hulcoop, David G, Ochoa, David, McDonagh, Ellen M, Dunham, Ian

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels von Martin, Antonio Rueda, Williams, Eleanor, Foulger, Rebecca E., Leigh, Sarah, Daugherty, Louise C., Niblock, Olivia, Leong, Ivone U. S., Smith, Katherine R., Gerasimenko, Oleg, Haraldsdottir, Eik, Thomas, Ellen, Scott, Richard H., Baple, Emma, Tucci, Arianna, Brittain, Helen, de Burca, Anna, Ibañez, Kristina, Kasperaviciute, Dalia, Smedley, Damian, Caulfield, Mark, Rendon, Augusto, McDonagh, Ellen M.

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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS von Turnbull, Clare, Scott, Richard H, Thomas, Ellen, Jones, Louise, Murugaesu, Nirupa, Pretty, Freya Boardman, Halai, Dina, Baple, Emma, Craig, Clare, Hamblin, Angela, Henderson, Shirley, Patch, Christine, O’Neill, Amanda, Devereaux, Andrew, Smith, Katherine, Martin, Antonio Rueda, Sosinsky, Alona, McDonagh, Ellen M, Sultana, Razvan, Mueller, Michael, Smedley, Damian, Toms, Adam, Dinh, Lisa, Fowler, Tom, Bale, Mark, Hubbard, Tim, Rendon, Augusto, Hill, Sue, Caulfield, Mark J

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EMBL's European Bioinformatics Institute (EMBL-EBI) in 2022 von Thakur, Matthew, Bateman, Alex, Brooksbank, Cath, Freeberg, Mallory, Harrison, Melissa, Hartley, Matthew, Keane, Thomas, Kleywegt, Gerard, Leach, Andrew, Levchenko, Mariia, Morgan, Sarah, McDonagh, Ellen M, Orchard, Sandra, Papatheodorou, Irene, Velankar, Sameer, Vizcaino, Juan Antonio, Witham, Rick, Zdrazil, Barbara, McEntyre, Johanna

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A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance von Anisul, Mohd, Shilts, Jarrod, Schwartzentruber, Jeremy, Hayhurst, James, Buniello, Annalisa, Shaikho Elhaj Mohammed, Elmutaz, Zheng, Jie, Holmes, Michael, Ochoa, David, Carmona, Miguel, Maranville, Joseph, Gaunt, Tom R, Emilsson, Valur, Gudnason, Vilmundur, McDonagh, Ellen M, Wright, Gavin J, Ghoussaini, Maya, Dunham, Ian

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Human genetics evidence supports two-thirds of the 2021 FDA-approved drugs von Ochoa, David, Karim, Mohd, Ghoussaini, ​​Maya, Hulcoop, David G., McDonagh, Ellen M., Dunham, Ian

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The Chemokine Receptor CXCR3 Is Degraded following Internalization and Is Replenished at the Cell Surface by De Novo Synthesis of Receptor von Meiser, Andrea, Mueller, Anja, Wise, Emma L, McDonagh, Ellen M, Petit, Sarah J, Saran, Namita, Clark, Peter C, Williams, Timothy J, Pease, James E

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CXCL4-induced migration of activated T lymphocytes is mediated by the chemokine receptor CXCR3 von Mueller, Anja, Meiser, Andrea, McDonagh, Ellen M., Fox, James M., Petit, Sarah J., Xanthou, Georgina, Williams, Timothy J., Pease, James E.

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Genetic support for FDA-approved drugs over the past decade von Rusina, Polina V., Falaguera, Maria J., Romero, Juan Maria R., McDonagh, Ellen M., Dunham, Ian, Ochoa, David

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Genome-wide association testing beyond SNPs von Harris, Laura, McDonagh, Ellen M, Zhang, Xiaolei, Fawcett, Katherine, Foreman, Amy, Daneck, Petr, Sergouniotis, Panagiotis I, Parkinson, Helen, Mazzarotto, Francesco, Inouye, Michael, Hollox, Edward J, Birney, Ewan, Fitzgerald, Tomas

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The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources von DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone U.S., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, Thabo Michael, Rehm, Heidi L.

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EMBL's European Bioinformatics Institute (EMBL-EBI) in 2023 von Thakur, Matthew, Buniello, Annalisa, Brooksbank, Catherine, Gurwitz, Kim T, Hall, Matthew, Hartley, Matthew, Hulcoop, David G, Leach, Andrew R, Marques, Diana, Martin, Maria, Mithani, Aziz, McDonagh, Ellen M, Mutasa-Gottgens, Euphemia, Ochoa, David, Perez-Riverol, Yasset, Stephenson, James, Varadi, Mihaly, Velankar, Sameer, Vizcaino, Juan Antonio, Witham, Rick, McEntyre, Johanna

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PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2 von McDonagh, Ellen M, Boukouvala, Sotiria, Aklillu, Eleni, Hein, David W, Altman, Russ B, Klein, Teri E

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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution von Stark, Zornitza, Foulger, Rebecca E., Williams, Eleanor, Thompson, Bryony A., Patel, Chirag, Lunke, Sebastian, Snow, Catherine, Leong, Ivone U.S., Puzriakova, Arina, Daugherty, Louise C., Leigh, Sarah, Boustred, Christopher, Niblock, Olivia, Rueda-Martin, Antonio, Gerasimenko, Oleg, Savage, Kevin, Bellamy, William, Lin, Victor San Kho, Valls, Roman, Gordon, Lavinia, Brittain, Helen K., Thomas, Ellen R.A., Taylor Tavares, Ana Lisa, McEntagart, Meriel, White, Susan M., Tan, Tiong Y., Yeung, Alison, Downie, Lilian, Macciocca, Ivan, Savva, Elena, Lee, Crystle, Roesley, Ain, De Fazio, Paul, Deller, Jane, Deans, Zandra C., Hill, Sue L., Caulfield, Mark J., North, Kathryn N., Scott, Richard H., Rendon, Augusto, Hofmann, Oliver, McDonagh, Ellen M.

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PharmGKB summary: isoniazid pathway, pharmacokinetics von Klein, Daniel J, Boukouvala, Sotiria, McDonagh, Ellen M, Shuldiner, Scott R, Laurieri, Nicola, Thorn, Caroline F, Altman, Russ B, Klein, Teri E

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Single‐base substitutions in the CHM promoter as a cause of choroideremia von Radziwon, Alina, Arno, Gavin, K. Wheaton, Dianna, McDonagh, Ellen M., Baple, Emma L., Webb‐Jones, Kaylie, G. Birch, David, Webster, Andrew R., MacDonald, Ian M.

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PharmGKB summary: caffeine pathway von Thorn, Caroline F, Aklillu, Eleni, McDonagh, Ellen M, Klein, Teri E, Altman, Russ B

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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and d... von Roberts, Angharad M., DiStefano, Marina T., Riggs, Erin Rooney, Josephs, Katherine S., Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Berg, Jonathan S., Cunningham, Fiona, Eilbeck, Karen, Firth, Helen V., Foreman, Julia, Hamosh, Ada, Hay, Eleanor, Leigh, Sarah, Martin, Christa L., McDonagh, Ellen M., Perrett, Daniel, Ramos, Erin M., Robinson, Peter N., Rath, Ana, Sant, David W., Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.

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