Rare variant contribution to human disease in 281,104 UK Biobank exomes von Wang, Quanli, Dhindsa, Ryan S., Carss, Keren, Harper, Andrew R., Nag, Abhishek, Tachmazidou, Ioanna, Vitsios, Dimitrios, Deevi, Sri V. V., Mackay, Alex, Muthas, Daniel, Hühn, Michael, Monkley, Susan, Olsson, Henric, Wasilewski, Sebastian, Smith, Katherine R., March, Ruth, Platt, Adam, Haefliger, Carolina, Petrovski, Slavé

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InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data von SMITH, Richard N, ALEKSIC, Jelena, STEPAN, Radek, SULLIVAN, Julie, WAKELING, Matthew, WATKINS, Xavier, MICKLEM, Gos, BUTANO, Daniela, CARR, Adrian, CONTRINO, Sergio, FENGYUAN HU, LYNE, Mike, LYNE, Rachel, KALDERIMIS, Alex, RUTHERFORD, Kim

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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders von Simeoni, Ilenia, Stephens, Jonathan C., Hu, Fengyuan, Deevi, Sri V.V., Megy, Karyn, Bariana, Tadbir K., Lentaigne, Claire, Schulman, Sol, Sivapalaratnam, Suthesh, Vries, Minka J.A., Westbury, Sarah K., Greene, Daniel, Papadia, Sofia, Alessi, Marie-Christine, Attwood, Antony P., Ballmaier, Matthias, Baynam, Gareth, Bermejo, Emilse, Bertoli, Marta, Bray, Paul F., Bury, Loredana, Cattaneo, Marco, Collins, Peter, Daugherty, Louise C., Favier, Rémi, French, Deborah L., Furie, Bruce, Gattens, Michael, Germeshausen, Manuela, Ghevaert, Cedric, Goodeve, Anne C., Guerrero, Jose A., Hampshire, Daniel J., Hart, Daniel P., Heemskerk, Johan W.M., Henskens, Yvonne M.C., Hill, Marian, Hogg, Nancy, Jolley, Jennifer D., Kahr, Walter H., Kelly, Anne M., Kerr, Ron, Kostadima, Myrto, Kunishima, Shinji, Lambert, Michele P., Liesner, Ri, López, José A., Mapeta, Rutendo P., Mathias, Mary, Millar, Carolyn M., Nathwani, Amit, Neerman-Arbez, Marguerite, Nurden, Alan T., Nurden, Paquita, Othman, Maha, Peerlinck, Kathelijne, Perry, David J., Poudel, Pawan, Reitsma, Pieter, Rondina, Matthew T., Smethurst, Peter A., Stevenson, William, Szkotak, Artur, Tuna, Salih, van Geet, Christel, Whitehorn, Deborah, Wilcox, David A., Zhang, Bin, Revel-Vilk, Shoshana, Gresele, Paolo, Bellissimo, Daniel B., Penkett, Christopher J., Laffan, Michael A., Mumford, Andrew D., Rendon, Augusto, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Turro, Ernest

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MECOM Locus classical transcript isoforms affect tumor immune microenvironment and different targets in ovarian cancer von Lan, Ning, Bai, Shuheng, Chen, Min, Wang, Xuan, Feng, Zhaode, Gao, Ying, Hui, Beina, Ma, Wen, Zhang, Xiangxiang, Hu, Fengyuan, Liu, Wanyi, Li, Wenyang, Wu, Fang, Ren, Juan

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Prognostic value of extrahepatic metastasis on colon cancer with liver metastasis: a retrospective cohort study von Bai, Shuheng, Chen, Ling, Zhu, Guixian, Xuan, Wang, Hu, Fengyuan, Liu, Wanyi, Li, Wenyang, Lan, Ning, Chen, Min, Yan, Yanli, Li, Rong, Yang, Yiping, Ren, Juan

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Cross-organism analysis using InterMine von Lyne, Rachel, Sullivan, Julie, Butano, Daniela, Contrino, Sergio, Heimbach, Joshua, Hu, Fengyuan, Kalderimis, Alex, Lyne, Mike, N. Smith, Richard, Štěpán, Radek, Balakrishnan, Rama, Binkley, Gail, Harris, Todd, Karra, Kalpana, A. T. Moxon, Sierra, Motenko, Howie, Neuhauser, Steven, Ruzicka, Leyla, Cherry, Mike, Richardson, Joel, Stein, Lincoln, Westerfield, Monte, Worthey, Elizabeth, Micklem, Gos

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Transient response analysis of cross-ply composite laminated rectangular plates with general boundary restraints by the method of reverberation ray matrix von Shao, Dong, Hu, Fengyuan, Wang, Qingshan, Pang, Fuzhen, Hu, Shenghai

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Understanding regulation of metabolism through feasibility analysis von Nikerel, Emrah, Berkhout, Jan, Hu, Fengyuan, Teusink, Bas, Reinders, Marcel J T, de Ridder, Dick

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DGA: Direction-guided Attack Against Optical Aerial Detection in Camera Shooting Direction Agnostic Scenarios von Zhou, Yue, Sun, Shuqi, Jiang, Xue, Xu, Guozheng, Hu, Fengyuan, Zhang, Ze, Liu, Xingzhao

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Polysaccharides from Ziziphus jujuba prolong lifespan and attenuate oxidative stress in Caenorhabditis elegans via DAF-16 and SKN-1 von Han, Shaohua, Hu, Fengyuan, Ji, Xiaoxue, Liu, Yong, Zhang, Shouan, Wang, Zhongtang, Qiao, Kang

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Whole-genome sequencing of patients with rare diseases in a national health system von Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V. V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B. A., Saleem, Moin A., Smith, Kenneth G. C., Stark, Hannah, Tan, Rhea Y. Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Kingston, Nathalie, Walker, Neil, Bradley, John R., Ashford, Sofie, Penkett, Christopher J., Freson, Kathleen, Stirrups, Kathleen E., Raymond, F. Lucy, Ouwehand, Willem H.

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Correction to: ORFLine: a bioinformatic pipeline to prioritize small open reading frames identifies candidate secreted small proteins from lymphocytes von Hu, Fengyuan, Lu, Jia, Matheson, Louise S, Díaz-Muñoz, Manuel D, Saveliev, Alexander, Turner, Martin

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.

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InterMine: extensive web services for modern biology von Kalderimis, Alex, Lyne, Rachel, Butano, Daniela, Contrino, Sergio, Lyne, Mike, Heimbach, Joshua, Hu, Fengyuan, Smith, Richard, Stěpán, Radek, Sullivan, Julie, Micklem, Gos

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children von French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy

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Germline selection shapes human mitochondrial DNA diversity von Wei, Wei, Tuna, Salih, Keogh, Michael J., Smith, Katherine R., Aitman, Timothy J., Beales, Phil L., Bennett, David L., Gale, Daniel P., Bitner-Glindzicz, Maria A. K., Black, Graeme C., Brennan, Paul, Elliott, Perry, Flinter, Frances A., Floto, R. Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R., Markus, Hugh S., Morrell, Nicholas W., Newman, William G., Roberts, Irene, Sayer, John A., Smith, Kenneth G. C., Taylor, Jenny C., Watkins, Hugh, Webster, Andrew R., Wilkie, Andrew O. M., Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J., Stirrups, Kathleen E., Rendon, Augusto, Ouwehand, Willem H., Bradley, John R., Raymond, F. Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F.

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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans von Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher

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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations von Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy

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Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank von Garg, Manik, Karpinski, Marcin, Matelska, Dorota, Middleton, Lawrence, Burren, Oliver S., Hu, Fengyuan, Wheeler, Eleanor, Smith, Katherine R., Fabre, Margarete A., Mitchell, Jonathan, O’Neill, Amanda, Ashley, Euan A., Harper, Andrew R., Wang, Quanli, Dhindsa, Ryan S., Petrovski, Slavé, Vitsios, Dimitrios

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Rare variant associations with plasma protein levels in the UK Biobank von Dhindsa, Ryan S., Burren, Oliver S., Sun, Benjamin B., Prins, Bram P., Matelska, Dorota, Wheeler, Eleanor, Mitchell, Jonathan, Oerton, Erin, Hristova, Ventzislava A., Smith, Katherine R., Carss, Keren, Wasilewski, Sebastian, Harper, Andrew R., Paul, Dirk S., Fabre, Margarete A., Runz, Heiko, Viollet, Coralie, Challis, Benjamin, Platt, Adam, Vitsios, Dimitrios, Ashley, Euan A., Whelan, Christopher D., Pangalos, Menelas N., Wang, Quanli, Petrovski, Slavé

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