The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom von Schwarze, Katharina, Buchanan, James, Fermont, Jilles M., Dreau, Helene, Tilley, Mark W., Taylor, John M., Antoniou, Pavlos, Knight, Samantha J. L., Camps, Carme, Pentony, Melissa M., Kvikstad, Erika M., Harris, Steve, Popitsch, Niko, Pagnamenta, Alistair T., Schuh, Anna, Taylor, Jenny C., Wordsworth, Sarah

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A high throughput screen for active human transposable elements von Kvikstad, Erika M, Piazza, Paolo, Taylor, Jenny C, Lunter, Gerton

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Strong Heterogeneity in Mutation Rate Causes Misleading Hallmarks of Natural Selection on Indel Mutations in the Human Genome von Kvikstad, Erika M., Duret, Laurent

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The (r)evolution of SINE versus LINE distributions in primate genomes: sex chromosomes are important von Kvikstad, Erika M, Makova, Kateryna D

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Plasma proteomic associations with genetics and health in the UK Biobank von Sun, Benjamin B., Chiou, Joshua, Traylor, Matthew, Benner, Christian, Hsu, Yi-Hsiang, Richardson, Tom G., Surendran, Praveen, Mahajan, Anubha, Robins, Chloe, Vasquez-Grinnell, Steven G., Hou, Liping, Kvikstad, Erika M., Burren, Oliver S., Davitte, Jonathan, Ferber, Kyle L., Gillies, Christopher E., Hedman, Åsa K., Hu, Sile, Lin, Tinchi, Mikkilineni, Rajesh, Pendergrass, Rion K., Pickering, Corran, Prins, Bram, Baird, Denis, Chen, Chia-Yen, Ward, Lucas D., Deaton, Aimee M., Welsh, Samantha, Willis, Carissa M., Lehner, Nick, Arnold, Matthias, Wörheide, Maria A., Suhre, Karsten, Kastenmüller, Gabi, Sethi, Anurag, Cule, Madeleine, Raj, Anil, Burkitt-Gray, Lucy, Melamud, Eugene, Black, Mary Helen, Fauman, Eric B., Howson, Joanna M. M., Kang, Hyun Min, McCarthy, Mark I., Nioi, Paul, Petrovski, Slavé, Scott, Robert A., Smith, Erin N., Szalma, Sándor, Waterworth, Dawn M., Mitnaul, Lyndon J., Szustakowski, Joseph D., Gibson, Bradford W., Miller, Melissa R., Whelan, Christopher D.

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A macaque's-eye view of human insertions and deletions: differences in mechanisms von Kvikstad, Erika M, Tyekucheva, Svitlana, Chiaromonte, Francesca, Makova, Kateryna D

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases von Pagnamenta, Alistair T, Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M, Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J, Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R, Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V, Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L, Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R, Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E, Guerrini, Renzo, Harris, Adrian L, Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J L, Kreins, Alexandra Y, Kvikstad, Erika M, Langman, Craig B, Lester, Tracy, Lines, Kate E, Lord, Simon R, Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J, Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H, Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y, Pentony, Melissa M, Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G, Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D, Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V, Twigg, Stephen R F, Uhlig, Holm H, van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H, Kini, Usha, Wilkie, Andrew O M, Popitsch, Niko, Taylor, Jenny C

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Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions von Kvikstad, Erika M, Chiaromonte, Francesca, Makova, Kateryna D

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Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing von Schuh, Anna, Dreau, Helene, Knight, Samantha J L, Ridout, Kate, Mizani, Tuba, Vavoulis, Dimitris, Colling, Richard, Antoniou, Pavlos, Kvikstad, Erika M, Pentony, Melissa M, Hamblin, Angela, Protheroe, Andrew, Parton, Marina, Shah, Ketan A, Orosz, Zsolt, Athanasou, Nick, Hassan, Bass, Flanagan, Adrienne M, Ahmed, Ahmed, Winter, Stuart, Harris, Adrian, Tomlinson, Ian, Popitsch, Niko, Church, David, Taylor, Jenny C

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Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods von Shields, Adrian M, Pagnamenta, Alistair T, Pollard, Andrew J, Taylor, Jenny C, Allroggen, Holger, Patel, Smita Y

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A macaque's-eye view of human insertions and deletions: differences in mechanisms von Kvikstad, Erika M., Tyekucheva, Svitlana, Chiaromonte, Francesca, Makova, Kateryna

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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom von Schwarze, Katharina, Buchanan, James, Fermont, Jilles M, Dreau, Helene, Tilley, Mark W, Taylor, John M, Antoniou, Pavlos, Knight, Samantha JL, Camps, Carme, Pentony, Melissa M, Kvikstad, Erika M, Harris, Steve, Popitsch, Niko, Pagnamenta, Alistair T, Schuh, Anna, Taylor, Jenny C, Wordsworth, Sarah

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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom von Schwarze, Katharina, Buchanan, James, Fermont, Jilles M, Dreau, Helene, Tilley, Mark W, Taylor, John M, Antoniou, Pavlos, Knight, Samantha J. L, Camps, Carme, Pentony, Melissa M, Kvikstad, Erika M, Harris, Steve, Popitsch, Niko, Pagnamenta, Alistair T, Schuh, Anna, Taylor, Jenny C, Wordsworth, Sarah

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A high throughput screen for active human transposable elements von Kvikstad, Erika M, Piazza, Paolo, Taylor, Jenny C, Lunter, Gerton

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Additional file 3 of Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases von Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.

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A macaque's-eye view of human insertions and deletions: differences in mechanisms von Kvikstad, Erika M, Tyekucheva, Svitlana, Chiaromonte, Francesca, Makova, Kateryna D

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The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes von Montgomery, Stephen B, Goode, David L, Kvikstad, Erika, Albers, Cornelis A, Zhang, Zhengdong D, Mu, Xinmeng Jasmine, Ananda, Guruprasad, Howie, Bryan, Karczewski, Konrad J, Smith, Kevin S, Anaya, Vanessa, Richardson, Rhea, Davis, Joe, MacArthur, Daniel G, Sidow, Arend, Duret, Laurent, Gerstein, Mark, Makova, Kateryna D, Marchini, Jonathan, McVean, Gil, Lunter, Gerton

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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease von Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty

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Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank von Szustakowski, Joseph D., Balasubramanian, Suganthi, Kvikstad, Erika, Khalid, Shareef, Bronson, Paola G., Sasson, Ariella, Wong, Emily, Liu, Daren, Wade Davis, J., Haefliger, Carolina, Katrina Loomis, A., Mikkilineni, Rajesh, Noh, Hyun Ji, Wadhawan, Samir, Bai, Xiaodong, Hawes, Alicia, Krasheninina, Olga, Ulloa, Ricardo, Lopez, Alex E., Smith, Erin N., Waring, Jeffrey F., Whelan, Christopher D., Tsai, Ellen A., Overton, John D., Salerno, William J., Jacob, Howard, Szalma, Sandor, Runz, Heiko, Hinkle, Gregory, Nioi, Paul, Petrovski, Slavé, Miller, Melissa R., Baras, Aris, Mitnaul, Lyndon J., Reid, Jeffrey G.

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Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection von Zekavat, Seyedeh M., Lin, Shu-Hong, Bick, Alexander G., Liu, Aoxing, Paruchuri, Kaavya, Wang, Chen, Uddin, Md Mesbah, Ye, Yixuan, Yu, Zhaolong, Liu, Xiaoxi, Kamatani, Yoichiro, Bhattacharya, Romit, Pirruccello, James P., Pampana, Akhil, Loh, Po-Ru, Kohli, Puja, McCarroll, Steven A., Kiryluk, Krzysztof, Neale, Benjamin, Ionita-Laza, Iuliana, Engels, Eric A., Brown, Derek W., Smoller, Jordan W., Green, Robert, Karlson, Elizabeth W., Lebo, Matthew, Ellinor, Patrick T., Weiss, Scott T., Daly, Mark J., Terao, Chikashi, Zhao, Hongyu, Ebert, Benjamin L., Reilly, Muredach P., Ganna, Andrea, Machiela, Mitchell J., Genovese, Giulio, Natarajan, Pradeep

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