At Illumina, we enjoy seeing how researchers are successfully using our products for a wide range of genetic analysis applications. We are proud to share this list of publications from the growing community of Illumina customers, collaborators, and internal scientists. If we missed one, please send the citation to publications@illumina.com.

Title Authors Source Year
Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329 75-8 2010
Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing. Jeffrey A Rosenfeld, Anil K Malhotra, Todd Lencz Nucleic Acids Res 2010
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. Nara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen L Oswald, Eric L Stevens, Dongliang Ge, Kevin V Shianna, Jason P Smith, Jessica M Maia, Curtis E Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie E Hoover-Fong, David B Goldstein PLoS Genet 6 e1000991 2010
The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance. Santosh S Atanur, Inan? Birol, Victor Guryev, Martin Hirst, Oliver Hummel, Catherine Morrissey, Jacques Behmoaras, Xose M Fernandez-Suarez, Michelle D Johnson, William M McLaren, Giannino Patone, Enrico Petretto, Charles Plessy, Kathleen S Rockland, Charles Rockland, Kathrin Saar, Yongjun Zhao, Piero Carninci, Paul Flicek, Ted Kurtz, Edwin Cuppen, Michal Pravenec, Norbert Hubner, Steven J M Jones, Ewan Birney, Timothy J Aitman Genome Res 20 791-803 2010
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet 86 743-8 2010
Genome analysis of Moraxella catarrhalis strain RH4: a human respiratory tract pathogen. Stefan P W de Vries, Sacha A F T van Hijum, Wolfgang Schueler, Kristian Riesbeck, John P Hays, Peter W M Hermans, Hester J Bootsma J Bacteriol 2010
Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene. I Slade, P Stephens, J Douglas, K Barker, L Stebbings, F Abbaszadeh, K Pritchard-Jones,    , R Cole, B Pizer, C Stiller, G Vujanic, R H Scott, M R Stratton, N Rahman J Med Genet 47 342-7 2010
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Aaron R Quinlan, Royden A Clark, Svetlana Sokolova, Mitchell L Leibowitz, Yujun Zhang, Matthew E Hurles, Joshua C Mell, Ira M Hall Genome Res 20 623-35 2010
Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Sergio E Baranzini, Joann Mudge, Jennifer C van Velkinburgh, Pouya Khankhanian, Irina Khrebtukova, Neil A Miller, Lu Zhang, Andrew D Farmer, Callum J Bell, Ryan W Kim, Gregory D May, Jimmy E Woodward, Stacy J Caillier, Joseph P McElroy, Refujia Gomez, Marcelo J Pando, Leonda E Clendenen, Elena E Ganusova, Faye D Schilkey, Thiruvarangan Ramaraj, Omar A Khan, Jim J Huntley, Shujun Luo, Pui-Yan Kwok, Thomas D Wu, Gary P Schroth, Jorge R Oksenberg, Stephen L Hauser, Stephen F Kingsmore Nature 464 1351-6 2010
Evolutionary dynamics of Clostridium difficile over short and long time scales. Miao He, Mohammed Sebaihia, Trevor D Lawley, Richard A Stabler, Lisa F Dawson, Melissa J Martin, Kathryn E Holt, Helena M B Seth-Smith, Michael A Quail, Richard Rance, Karen Brooks, Carol Churcher, David Harris, Stephen D Bentley, Christine Burrows, Louise Clark, Craig Corton, Vicky Murray, Graham Rose, Scott Thurston, Andries van Tonder, Danielle Walker, Brendan W Wren, Gordon Dougan, Julian Parkhill Proc Natl Acad Sci U S A 107 7527-32 2010
DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing. John C Castle, Matthew Biery, Heather Bouzek, Tao Xie, Ronghua Chen, Kira Misura, Stuart Jackson, Christopher D Armour, Jason M Johnson, Carol A Rohl, Christopher K Raymond BMC Genomics 11 244 2010
Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations. Hsiuchen Chen, Marc Vermulst, Yun E Wang, Anne Chomyn, Tomas A Prolla, J Michael McCaffery, David C Chan Cell 141 280-9 2010
Direct pathogen detection from swab samples using a new high-throughput sequencing technology. H Yongfeng, Y Fan, D Jie, Y Jian, Z Ting, S Lilian, Q Jin Clin Microbiol Infect 2010
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Li Ding, Matthew J Ellis, Shunqiang Li, David E Larson, Ken Chen, John W Wallis, Christopher C Harris, Michael D McLellan, Robert S Fulton, Lucinda L Fulton, Rachel M Abbott, Jeremy Hoog, David J Dooling, Daniel C Koboldt, Heather Schmidt, Joelle Kalicki, Qunyuan Zhang, Lei Chen, Ling Lin, Michael C Wendl, Joshua F McMichael, Vincent J Magrini, Lisa Cook, Sean D McGrath, Tammi L Vickery, Elizabeth Appelbaum, Katherine Deschryver, Sherri Davies, Therese Guintoli, Li Lin, Robert Crowder, Yu Tao, Jacqueline E Snider, Scott M Smith, Adam F Dukes, Gabriel E Sanderson, Craig S Pohl, Kim D Delehaunty, Catrina C Fronick, Kimberley A Pape, Jerry S Reed, Jody S Robinson, Jennifer S Hodges, William Schierding, Nathan D Dees, Dong Shen, Devin P Locke, Madeline E Wiechert, James M Eldred, Josh B Peck, Benjamin J Oberkfell, Justin T Lolofie, Feiyu Du, Amy E Hawkins, Michelle D OLaughlin, Kelly E Bernard, Mark Cunningham, Glendoria Elliott, Mark D Mason, Dominic M Thompson, Jennifer L Ivanovich, Pau Nature 464 999-1005 2010
P?rigord black truffle genome uncovers evolutionary origins and mechanisms of symbiosis. Francis Martin, Annegret Kohler, Claude Murat, Raffaella Balestrini, Pedro M Coutinho, Olivier Jaillon, Barbara Montanini, Emmanuelle Morin, Benjamin Noel, Riccardo Percudani, Bettina Porcel, Andrea Rubini, Antonella Amicucci, Joelle Amselem, V?ronique Anthouard, Sergio Arcioni, Fran?ois Artiguenave, Jean-Marc Aury, Paola Ballario, Angelo Bolchi, Andrea Brenna, Annick Brun, Marc Bu?e, Brandi Cantarel, G?rard Chevalier, Arnaud Couloux, Corinne Da Silva, France Denoeud, S?bastien Duplessis, Stefano Ghignone, Beno?t Hilselberger, Mirco Iotti, Beno?t Mar?ais, Antonietta Mello, Michele Miranda, Giovanni Pacioni, Hadi Quesneville, Claudia Riccioni, Roberta Ruotolo, Richard Splivallo, Vilberto Stocchi, Emilie Tisserant, Arturo Roberto Viscomi, Alessandra Zambonelli, Elisa Zampieri, Bernard Henrissat, Marc-Henri Lebrun, Francesco Paolocci, Paola Bonfante, Simone Ottonello, Patrick Wincker Nature 464 1033-8 2010
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