Illumina

在Illumina，我们欣喜地看到研究人员如何在多个遗传分析应用中成功使用我们的产品。我们很自豪地与大家分享这一份来自不断增加的Illumina客户、合作者及内部科学家的文献列表。如果我们不小心漏掉了一个，请将引用文献发送至 publications@illumina.com.

Title Authors Source Year
Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa Zuchner, Dallman 2011
Improved annotation of C. elegans microRNAs by deep sequencing reveals structures associated with processing by Drosha and Dicer Warf, Johnson 2011
Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants Guey, Kravic 2011
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Mathias Ehrich, Cosmin Deciu, Tricia Zwiefelhofer, John A Tynan, Lesley Cagasan, Roger Tim, Vivian Lu, Ron McCullough, Erin McCarthy, Anders O H Nygren, Jarrod Dean, Lin Tang, Don Hutchison, Tim Lu, Huiquan Wang, Vach Angkachatchai, Paul Oeth, Charles R Cantor, Allan Bombard, Dirk van den Boom Am J Obstet Gynecol 204 205.e1-205.e11 2011
Identification of miRNomes in Human Liver and Hepatocellular Carcinoma Reveals miR-199a/b-3p as Therapeutic Target for Hepatocellular Carcinoma Hou, Lin 2011
Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy Norton, Li 2011
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43 Tollervey, Curk 2011
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Magdalini Polymenidou, Clotilde Lagier-Tourenne, Kasey R Hutt, Stephanie C Huelga, Jacqueline Moran, Tiffany Y Liang, Shuo-Chien Ling, Eveline Sun, Edward Wancewicz, Curt Mazur, Holly Kordasiewicz, Yalda Sedaghat, John Paul Donohue, Lily Shiue, C Frank Bennett, Gene W Yeo, Don W Cleveland Nat Neurosci 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. David R Goudie, Mariella DAlessandro, Barry Merriman, Hane Lee, Ildik? Szever?nyi, Stuart Avery, Brian D OConnor, Stanley F Nelson, Stephanie E Coats, Arlene Stewart, Lesley Christie, Gabriella Pichert, Jean Friedel, Ian Hayes, Nigel Burrows, Sean Whittaker, Anne-Marie Gerdes, Sigurd Broesby-Olsen, Malcolm A Ferguson-Smith, Chandra Verma, Declan P Lunny, Bruno Reversade, E Birgitte Lane Nat Genet 2011
Whole-genome sequencing and social-network analysis of a tuberculosis outbreak. Jennifer L Gardy, James C Johnston, Shannan J Ho Sui, Victoria J Cook, Lena Shah, Elizabeth Brodkin, Shirley Rempel, Richard Moore, Yongjun Zhao, Robert Holt, Richard Varhol, Inanc Birol, Marcus Lem, Meenu K Sharma, Kevin Elwood, Steven J M Jones, Fiona S L Brinkman, Robert C Brunham, Patrick Tang N Engl J Med 364 730-9 2011
Microbial phylogeny and diversity: small subunit ribosomal RNA sequence analysis and beyond. J Rajendhran, P Gunasekaran Microbiol Res 166 99-110 2011
RNA-seq reveals cooperative metabolic interactions between two termite-gut spirochete species in co-culture. Adam Z Rosenthal, Eric G Matson, Avigdor Eldar, Jared R Leadbetter ISME J 2011
Genomewide characterization of non-polyadenylated RNAs. Li Yang, Michael O Duff, Brenton R Graveley, Gordon G Carmichael, Ling-Ling Chen Genome Biol 12 R16 2011
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Murim Choi, Ute I Scholl, Peng Yue, Peyman Bj?rklund, Bixiao Zhao, Carol Nelson-Williams, Weizhen Ji, Yoonsang Cho, Aniruddh Patel, Clara J Men, Elias Lolis, Max V Wisgerhof, David S Geller, Shrikant Mane, Per Hellman, Gunnar Westin, G?ran ?kerstr?m, Wenhui Wang, Tobias Carling, Richard P Lifton Science 331 768-72 2011
Initial impact of the sequencing of the human genome. Eric S Lander Nature 470 187-97 2011
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