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Whole genome sequencing improves tissue-of-origin diagnosis and treatment options for cancer of unknown primary Rebello, Richard J.; Posner, Atara; Dong, Ruining; Prall, Owen W. J.; Sivakumaran, Tharani; Mitchell, Camilla B.; Flynn, Aidan; Caneborg, Alex; Mitchell, Catherine; Kanwal, Sehrish; Fedele, Clare; Webb, Samantha; Fisher, Krista; Wong, Hui-Li; Balachander, Shiva; Zhu, Wenying; Nicolson, Shannon; Dimitriadis, Voula; Wilcken, Nicholas; Defazio, Anna; Gao, Bo; Singh, Madhu; Collins, Ian M.; Steer, Christopher; Warren, Mark; Karanth, Narayan; Xu, Huiling; Fellowes, Andrew; Hicks, Rodney J.; Stewart, Kym Pham; Shale, Charles; Priestley, Peter; Dawson, Sarah-Jane; Vissers, Joseph H. A.; Fox, Stephen B.; Schofield, Penelope; Bowtell, David; Hofmann, Oliver; Grimmond, Sean M.; Mileshkin, Linda; Tothill, Richard W. Share Save
Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles Flynn, Aidan; Pattison, Andrew D.; Balachander, Shiva; Boehm, Emma; Bowen, Blake; Dwight, Trisha; Rossello, Fernando J.; Hofmann, Oliver; Zethoven, Maia; Kirschner, Lawrence S.; Else, Tobias; Fishbein, Lauren; Gill, Anthony J.; Tischler, Arthur S.; Giordano, Thomas; Prodanov, Tamara; Noble, Jane R.; Reddel, Roger R.; Trainer, Alison H.; Ghayee, Hans Kumar; Bourdeau, Isabelle; Elston, Marianne; Ishak, Diana; Yie, Joanne Ngeow Yuen; Hicks, Rodney J.; Crona, Joakim; Akerstrom, Tobias; Stalberg, Peter; Dahia, Patricia; Clifton-Bligh, Roderick Share Save
A call to action to scale up research and clinical genomic data sharing Stark, Zornitza; Glazer, David; Hofmann, Oliver; Rendon, Augusto; Marshall, Christian R.; Ginsburg, Geoffrey S.; Lunt, Chris; Allen, Naomi; Effingham, Mark; Ward, Jillian Hastings; Hill, Sue L.; Ali, Raghib; Goodhand, Peter; Page, Angela; Rehm, Heidi L.; North, Kathryn N.; Scott, Richard H. Share Save
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Scalable genomic data exchange and analytics with sBeacon Wickramarachchi, Anuradha; Hosking, Brendan; Jain, Yatish; Grimes, John; O'Brien, Mitchell J.; Wright, Tracey; Burgess, Mark A.; Lin, Victor San Kho; Reisinger, Florian; Hofmann, Oliver; Lawley, Michael; Wilson, Laurence O. W.; Twine, Natalie A.; Bauer, Denis C. Share Save
Targeting homologous recombination deficiency in uterine leiomyosarcoma Dall, Genevieve; Vandenberg, Cassandra J. J.; Nesic, Ksenija; Ratnayake, Gayanie; Zhu, Wenying; Vissers, Joseph H. A.; Bedo, Justin; Penington, Jocelyn; Wakefield, Matthew J. J.; Kee, Damien; Carmagnac, Amandine; Lim, Ratana; Shield-Artin, Kristy; Milesi, Briony; Lobley, Amanda; Kyran, Elizabeth L. L.; O'Grady, Emily; Tram, Joshua; Zhou, Warren; Nugawela, Devindee; Stewart, Kym Pham; Caldwell, Reece; Papadopoulos, Lia; Ng, Ashley P. P.; Dobrovic, Alexander; Fox, Stephen B. B.; McNally, Orla; Power, Jeremy D. D.; Meniawy, Tarek; Tan, Teng Han; Collins, Ian M. M.; Klein, Oliver; Barnett, Stephen; Olesen, Inger; Hamilton, Anne; Hofmann, Oliver; Grimmond, Sean; Papenfuss, Anthony T. T.; Scott, Clare L. L.; Barker, Holly E. E. Share Save
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L.; Goranitis, Ilias; Spurdle, Amanda B.; Hansen, David P.; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J.; Scott, Hamish S.; Thorne, Natalie; Ward, Robyn L.; Dinger, Marcel E.; Best, Stephanie; Long, Janet C.; Grimmond, Sean M.; Pearson, John; Waddell, Nicola; Barnett, Christopher P.; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B.; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J.; Lockhart, Paul J.; Lunke, Sebastian; Mallett, Andrew J.; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E.; Semsarian, Christopher; Simons, Cas; Thomas, David M.; Thorburn, David R.; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T.; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael CJ.; Mattiske, Tessa; Tudini, Emma; Boggs, Kirsten; Murray, Sean; Wells, Kathy; Cannings, John; Sinclair, Andrew H.; Christodoulou, John; North, Kathryn N. Share Save
GA4GH: International policies and standards for data sharing across genomic research and healthcare Rehm, Heidi L.; Page, Angela J. H.; Smith, Lindsay; Adams, Jeremy B.; Alterovitz, Gil; Babb, Lawrence J.; Barkley, Maxmillian P.; Baudis, Michael; Beauvais, Michael J. S.; Beck, Tim; Beckmann, Jacques S.; Beltran, Sergi; Bernick, David; Bernier, Alexander; Bonfield, James K.; Boughtwood, Tiffany F.; Bourque, Guillaume; Bowers, Sarion R.; Brookes, Anthony J.; Brudno, Michael; Brush, Matthew H.; Bujold, David; Burdett, Tony; Buske, Orion J.; Cabili, Moran N.; Cameron, Daniel L.; Carroll, Robert J.; Casas-Silva, Esmeralda; Chakravarty, Debyani; Chaudhari, Bimal P.; Chen, Shu Hui; Cherry, J. Michael; Chung, Justina; Cline, Melissa; Clissold, Hayley L.; Cook-Deegan, Robert M.; Courtot, Melanie; Cunningham, Fiona; Cupak, Miro; Davies, Robert M.; Denisko, Danielle; Doerr, Megan J.; Dolman, Lena I.; Dove, Edward S.; Dursi, L. Jonathan; Dyke, Stephanie O. M.; Eddy, James A.; Eilbeck, Karen; Ellrott, Kyle P.; Fairley, Susan; Fakhro, Khalid A.; Firth, Helen V.; Fitzsimons, Michael S.; Fiume, Marc; Flicek, Paul; Fore, Ian M.; Freeberg, Mallory A.; Freimuth, Robert R.; Fromont, Lauren A.; Fuerth, Jonathan; Gaff, Clara L.; Gan, Weiniu; Ghanaim, Elena M.; Glazer, David; Green, Robert C.; Griffith, Malachi; Griffith, Obi L.; Grossman, Robert L.; Groza, Tudor; Auvil, Jaime M. Guidry; Guigo, Roderic; Gupta, Dipayan; Haendel, Melissa A.; Hamosh, Ada; Hansen, David P.; Hart, Reece K.; Hartley, Dean Mitchell; Haussler, David; Hendricks-Sturrup, Rachele M.; Ho, Calvin W. L.; Hobb, Ashley E.; Hoffman, Michael M.; Hofmann, Oliver M.; Holub, Petr; Hsu, Jacob Shujui; Hubaux, Jean-Pierre; Hunt, Sarah E.; Husami, Ammar; Jacobsen, Julius O.; Jamuar, Saumya S.; Janes, Elizabeth L.; Jeanson, Francis; Jene, Aina; Johns, Amber L.; Joly, Yann; Jones, Steven J. M.; Kanitz, Alexander; Kato, Kazuto; Keane, Thomas M.; Kekesi-Lafrance, Kristina; Kelleher, Jerome; Kerry, Giselle; Khor, Seik-Soon; Knoppers, Bartha M.; Konopko, Melissa A.; Kosaki, Kenjiro; Kuba, Martin; Lawson, Jonathan; Leinonen, Rasko; Li, Stephanie; Lin, Michael F.; Linden, Mikael; Liu, Xianglin; Liyanage, Isuru Udara; Lopez, Javier; Lucassen, Anneke M.; Lukowski, Michael; Mann, Alice L.; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J.; Molnar-Gabor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C.; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H.; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyronen, Tommi H.; O'Connor, Brian D.; Oesterle, Sabine; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura A. D.; Palumbo, Emilio; Parkinson, Helen E.; Philippakis, Anthony A.; Pizarro, Angel D.; Prlic, Andreas; Rambla, Jordi; Rendon, Augusto; Rider, Renee A.; Robinson, Peter N.; Rodarmer, Kurt W.; Rodriguez, Laura Lyman; Rubin, Alan F.; Rueda, Manuel; Rushton, Gregory A.; Ryan, Rosalyn S.; Saunders, Gary I.; Schuilenburg, Helen; Schwede, Torsten; Scollen, Serena; Senf, Alexander; Sheffield, Nathan C.; Skantharajah, Neerjah; Smith, Albert V.; Sofia, Heidi J.; Spalding, Dylan; Spurdle, Amanda B.; Stark, Zornitza; Stein, Lincoln D.; Suematsu, Makoto; Tan, Patrick; Tedds, Jonathan A.; Thomson, Alastair A.; Thorogood, Adrian; Tickle, Timothy L.; Tokunaga, Katsushi; Tomroos, Juha; Torrents, David; Upchurch, Sean; Valencia, Alfonso; Guimera, Roman Valls; Vamathevan, Jessica; Varma, Susheel; Vears, Danya F.; Viner, Coby; Voisin, Craig; Wagner, Alex H.; Wallace, Susan E.; Walsh, Brian P.; Williams, Marc S.; Winkler, Eva C.; Wold, Barbara J.; Wood, Grant M.; Woolley, J. Patrick; Yamasaki, Chisato; Yates, Andrew D.; Yung, Christina K.; Zass, Lyndon J.; Zaytseva, Ksenia; Zhang, Junjun; Goodhand, Peter; North, Kathryn; Birney, Ewan Share Save
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution 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.; Tavares, Ana Lisa Taylor; 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. Share Save
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Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development Prokopenko, Dmitry; Morgan, Sarah L.; Mullin, Kristina; Hofmann, Oliver; Chapman, Brad; Kirchner, Rory; Amberkar, Sandeep; Wohlers, Inken; Lange, Christoph; Hide, Winston; Bertram, Lars; Tanzi, Rudolph E. Share Save
Aβ-accelerated neurodegeneration caused by Alzheimer's-associated ACE variant R1279Q is rescued by angiotensin system inhibition in mice Cuddy, Leah K.; Prokopenko, Dmitry; Cunningham, Eric P.; Brimberry, Ross; Song, Peter; Kirchner, Rory; Chapman, Brad A.; Hofmann, Oliver; Hide, Winston; Procissi, Daniele; Hanania, Taleen; Leiser, Steven C.; Tanzi, Rudolph E.; Vassar, Robert Share Save
RAF1 rearrangements are common in pancreatic acinar cell carcinomas Prall, Owen W. J.; Nastevski, Violeta; Xu, Huiling; McEvoy, Christopher R. E.; Vissers, Joep H. A.; Byrne, David J.; Takano, Elena; Yerneni, Satwica; Ellis, Sarah; Green, Thomas; Mitchell, Catherine A.; Murray, William K.; Scott, Clare L.; Grimmond, Sean M.; Hofmann, Oliver; Papenfuss, Anthony; Kee, Damien; Fellowes, Andrew; Brown, Ian S.; Miller, Gregory; Kumarasinghe, M. Priyanthi; Perren, Aurel; Nahm, Christopher B.; Mittal, Anubhav; Samra, Jaswinder; Ahadi, Mahsa; Fox, Stephen B.; Chou, Angela; Gill, Anthony J. Share Save
Butler enables rapid cloud-based analysis of thousands of human genomes (vol 79, pg 134, 2019) Yakneen, Sergei; Waszak, Sebastian M.; Gertz, Michael; Korbel, Jan O.; Aminou, Brice; Bartolome, Javier; Boroevich, Keith A.; Boyce, Rich; Brooks, Angela N.; Buchanan, Alex; Buchhalter, Ivo; Butler, Adam P.; Byrne, Niall J.; Cafferkey, Andy; Campbell, Peter J.; Chen, Zhaohong; Cho, Sunghoon; Choi, Wan; Clapham, Peter; Davis-Dusenbery, Brandi N.; De La Vega, Francisco M.; Demeulemeester, Jonas; Dow, Michelle T.; Dursi, Lewis Jonathan; Eils, Juergen; Eils, Roland; Ellrott, Kyle; Farcas, Claudiu; Favero, Francesco; Fayzullaev, Nodirjon; Ferretti, Vincent; Flicek, Paul; Fonseca, Nuno A.; Gelpi, Josep Ll.; Getz, Gad; Gibson, Bob; Grossman, Robert L.; Harismendy, Olivier; Heath, Allison P.; Heinold, Michael C.; Hess, Julian M.; Hofmann, Oliver; Hong, Jongwhi H.; Hudson, Thomas J.; Hutter, Barbara; Hutter, Carolyn M.; Hubschmann, Daniel; Imoto, Seiya; Ivkovic, Sinisa; Jeon, Seung-Hyup; Jiao, Wei; Jung, Jongsun; Kabbe, Rolf; Kahles, Andre; Kerssemakers, Jules N. A.; Kim, Hyung-Lae; Kim, Hyunghwan; Kim, Jihoon; Kim, Youngwook; Kleinheinz, Kortine; Koscher, Michael; Koures, Antonios; Kovacevic, Milena; Lawerenz, Chris; Leshchiner, Ignaty; Liu, Jia; Livitz, Dimitri; Mihaiescu, George L.; Mijalkovic, Sanja; Lazic, Ana Mijalkovic; Miyano, Satoru; Miyoshi, Naoki; Nahal-Bose, Hardeep K.; Nakagawa, Hidewaki; Nastic, Mia; Newhouse, Steven J.; Nicholson, Jonathan; O'Connor, Brian D.; Ocana, David; Ohi, Kazuhiro; Ohno-Machado, Lucila; Omberg, Larsson; Ouellette, B. F. Francis; Paramasivam, Nagarajan; Perry, Marc D.; Pihl, Todd D.; Prinz, Manuel; Puiggros, Montserrat; Radovic, Petar; Raine, Keiran M.; Rheinbay, Esther; Rosenberg, Mara; Royo, Romina; Ratsch, Gunnar; Saksena, Gordon; Schlesner, Matthias; Shorser, Solomon I.; Short, Charles; Sofia, Heidi J.; Spring, Jonathan; Stein, Lincoln D.; Struck, Adam J.; Tiao, Grace; Tijanic, Nebojsa; Torrents, David; Van Loo, Peter; Vazquez, Miguel; Vicente, David; Wala, Jeremiah A.; Wang, Zhining; Waszak, Sebastian M.; Weischenfeldt, Joachim; Werner, Johannes; Williams, Ashley; Woo, Youngchoon; Wright, Adam J.; Xiang, Qian; Yang, Liming; Yuen, Denis; Yung, Christina K.; Zhang, Junjun; Korbel, Jan O. Share Save
Arteria: An automation system for a sequencing core facility Dahlberg, Johan; Hermansson, Johan; Sturlaugsson, Steinar; Lysenkova, Mariya; Smeds, Patrik; Ladenvall, Claes; Guimera, Roman Valls; Reisinger, Florian; Hofmann, Oliver; Larsson, Pontus Share Save
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Copy number signatures and mutational processes in ovarian carcinoma Macintyre, Geoff; Goranova, Teodora E.; De Silva, Dilrini; Ennis, Darren; Piskorz, Anna M.; Eldridge, Matthew; Sie, Daoud; Lewsley, Liz-Anne; Hanif, Aishah; Wilson, Cheryl; Dowson, Suzanne; Glasspool, Rosalind M.; Lockley, Michelle; Brockbank, Elly; Montes, Ana; Walther, Axel; Sundar, Sudha; Edmondson, Richard; Hall, Geoff D.; Clamp, Andrew; Gourley, Charlie; Hall, Marcia; Fotopoulou, Christina; Gabra, Hani; Paul, James; Supernat, Anna; Millan, David; Hoyle, Aoisha; Bryson, Gareth; Nourse, Craig; Mincarelli, Laura; Sanchez, Luis Navarro; Ylstra, Bauke; Jimenez-Linan, Mercedes; Moore, Luiza; Hofmann, Oliver; Markowetz, Florian; McNeish, Iain A.; Brenton, James D. Share Save
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