The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer by Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S., Nicholson, James C., Burke, G. A. Amos, Behjati, Sam, Murray, Matthew J., Hook, Catherine E., Tarpey, Patrick

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update by McGuigan, Anthony, Whitworth, James, Andreou, Avgi, Hearn, Timothy, Tischkowitz, Marc, Maher, Eamonn R

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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project by Seaby, Eleanor G., Thomas, N. Simon, Webb, Amy, Brittain, Helen, Taylor Tavares, Ana Lisa, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah

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Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project by Wei, Yuguo, Papachristou, Nikolaos, Mueller, Stefanie, Chang, Wai Hoong, Lai, Alvina G

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Mutational signature in colorectal cancer caused by genotoxic pks+E. coli by Pleguezuelos-Manzano, Cayetano, Puschhof, Jens, Rosendahl Huber, Axel, van Hoeck, Arne, Wood, Henry M., Nomburg, Jason, Gurjao, Carino, Manders, Freek, Dalmasso, Guillaume, Stege, Paul B., Paganelli, Fernanda L., Geurts, Maarten H., Beumer, Joep, Mizutani, Tomohiro, Miao, Yi, van der Linden, Reinier, van der Elst, Stefan, Garcia, K. Christopher, Top, Janetta, Willems, Rob J. L., Giannakis, Marios, Bonnet, Richard, Quirke, Phil, Meyerson, Matthew, Cuppen, Edwin, van Boxtel, Ruben, Clevers, Hans

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Substitution mutational signatures in whole-genome-sequenced cancers in the UK population by Degasperi, Andrea, Zou, Xueqing, Amarante, Tauanne Dias, Martinez-Martinez, Andrea, Koh, Gene Ching Chiek, Dias, João M L, Heskin, Laura, Chmelova, Lucia, Rinaldi, Giuseppe, Wang, Valerie Ya Wen, Nanda, Arjun S, Bernstein, Aaron, Momen, Sophie E, Young, Jamie, Perez-Gil, Daniel, Memari, Yasin, Badja, Cherif, Shooter, Scott, Czarnecki, Jan, Brown, Matthew A, Davies, Helen R, Nik-Zainal, Serena

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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans by Wei, Wei, Pagnamenta, Alistair T., Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A., Fratter, Carl, Turro, Ernest, Caulfield, Mark J., Taylor, Jenny C., Rahman, Shamima, Chinnery, Patrick F.

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis by Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea

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Human and mouse essentiality screens as a resource for disease gene discovery by Cacheiro, Pilar, Muñoz-Fuentes, Violeta, Murray, Stephen A., Dickinson, Mary E., Bucan, Maja, Nutter, Lauryl M. J., Peterson, Kevin A., Haselimashhadi, Hamed, Flenniken, Ann M., Morgan, Hugh, Westerberg, Henrik, Konopka, Tomasz, Hsu, Chih-Wei, Christiansen, Audrey, Lanza, Denise G., Beaudet, Arthur L., Heaney, Jason D., Fuchs, Helmut, Gailus-Durner, Valerie, Sorg, Tania, Prochazka, Jan, Novosadova, Vendula, Lelliott, Christopher J., Wardle-Jones, Hannah, Wells, Sara, Teboul, Lydia, Cater, Heather, Stewart, Michelle, Hough, Tertius, Wurst, Wolfgang, Sedlacek, Radislav, Adams, David J., Seavitt, John R., Tocchini-Valentini, Glauco, Mammano, Fabio, Braun, Robert E., McKerlie, Colin, Herault, Yann, de Angelis, Martin Hrabě, Mallon, Ann-Marie, Lloyd, K. C.  Kent, Brown, Steve D. M., Parkinson, Helen, Meehan, Terrence F., Smedley, Damian

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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders by Rowlands, Charlie, Thomas, Huw B., Lord, Jenny, Wai, Htoo A., Arno, Gavin, Beaman, Glenda, Sergouniotis, Panagiotis, Gomes-Silva, Beatriz, Campbell, Christopher, Gossan, Nicole, Hardcastle, Claire, Webb, Kevin, O’Callaghan, Christopher, Hirst, Robert A., Ramsden, Simon, Jones, Elizabeth, Clayton-Smith, Jill, Webster, Andrew R., Douglas, Andrew G. L., O’Keefe, Raymond T., Newman, William G., Baralle, Diana, Black, Graeme C. M., Ellingford, Jamie M.

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Prevalence and significance of DDX41 gene variants in the general population by Cheloor Kovilakam, Sruthi, Gu, Muxin, Dunn, William G., Marando, Ludovica, Barcena, Clea, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Nik-Zainal, Serena, Mohorianu, Irina, Kar, Siddhartha P., Fabre, Margarete A., Quiros, Pedro M., Vassiliou, George S.

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Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy by Bacq, Alexandre, Roussel, Delphine, Bonduelle, Thomas, Zagaglia, Sara, Maletic, Marina, Ribierre, Théo, Adle-Biassette, Homa, Marchal, Cécile, Jennesson, Mélanie, An, Isabelle, Picard, Fabienne, Navarro, Vincent, Sisodiya, Sanjay M, Baulac, Stéphanie

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Origins and impact of extrachromosomal DNA by Bailey, Chris, Pich, Oriol, Thol, Kerstin, Watkins, Thomas B. K., Luebeck, Jens, Rowan, Andrew, Stavrou, Georgia, Weiser, Natasha E., Dameracharla, Bhargavi, Bentham, Robert, Lu, Wei-Ting, Kittel, Jeanette, Yang, S. Y. Cindy, Howitt, Brooke E., Sharma, Natasha, Litovchenko, Maria, Salgado, Roberto, Hung, King L., Cornish, Alex J., Moore, David A., Houlston, Richard S., Bafna, Vineet, Chang, Howard Y., Nik-Zainal, Serena, Kanu, Nnennaya, McGranahan, Nicholas, Flanagan, Adrienne M., Mischel, Paul S., Jamal-Hanjani, Mariam, Swanton, Charles

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An intermediate-effect size variant in UMOD confers risk for chronic kidney disease by Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A E, Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G, Kistler, Andreas D, Wilson, Ian J, Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Sr, Anthony J, Köttgen, Anna, Conlon, Peter J, Wiesener, Michael, Sayer, John A, Rampoldi, Luca, Devuyst, Olivier

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing by Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M., DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G., Vandrovcova, Jana, Pitceathly, Robert D. S.

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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision by Chrystal, Paul W., Lambacher, Nils J., Doucette, Lance P., Bellingham, James, Schiff, Elena R., Noel, Nicole C. L., Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A., Zhai, Yi, Nadolski, Nathan J., Majumder, Mohammed H., Tagoe, Julia, D’Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Mahroo, Omar A., Hocking, Jennifer C., Cheetham, Michael E., Webster, Andrew R., Jansen, Gert, Blacque, Oliver E., Allison, W. Ted, Au, Ping Yee Billie, MacDonald, Ian M., Arno, Gavin, Leroux, Michel R.

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders by Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., Akizu, Naiara

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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project by Wheway, Gabrielle, Mitchison, Hannah M

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Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome by Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Cerkauskaite, Agne, Savige, Judy

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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder by Niggl, Eva, Elgersma, Minetta, Clayton-Smith, Jill, Jain, Mahim, Krantz, Ian, Vetrini, Francesco, Witt, Dennis, Zhou, Dihong, Arumugam, P., Boardman-Pretty, F., Brown, M.A., Chan, G.C., Henderson, S., Kayikci, M., Kousathanas, A., Lahnstein, L., Maleady-Crowe, F., McEntagart, M., Minneci, F., O‘Donovan, P., Pereira, M.B., Rahim, T., Savage, K., Sawant, K., Smith, S.C., Sosinsky, A., Tucci, A., Williams, E., Alvey, Justin, Andrews, Ashley, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Bayrak-Toydemir, Pinar, Bejerano, Gill, Bican, Anna, Bivona, Stephanie, Bonner, Devon, Burke, Elizabeth A., Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Corona, Rosario, Crouse, Andrew B., Dipple, Katrina, Doss, Argenia L., Fisher, Paul G., Fu, Jiayu, Gahl, William A., Hamid, Rizwan, Hassey, Kelly, Huang, Yan, Introne, Wendy, Izumi, Kosuke, Jean-Marie, Orpa, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kohane, Isaac S., Krakow, Deborah, Lewis, Richard A., Loscalzo, Joseph, Maghiro, AudreyStephannie, Mahoney, Rachel, Mao, Rong, Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mirzaa, Ghayda, Morava, Eva, Morimoto, Marie, Nelson, Stanley F., Novacic, Donna, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rossignol, Francis, Schaechter, Judy, Shashi, Vandana, Shin, Jimann, Sinsheimer, Janet, Solnica-Krezel, Lilianna, Sullivan, Kathleen, Tan, Amelia L., Tarakad, Arjun, Telischi, Fred, Urv, Tiina K., Wahl, Colleen E., Wan, Jijun

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