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
A combined copy number and allele frequency analysis of rare chromosomal aberrations using SNP-Arrays European Cytogenetics Association Newsletter 26 4-11
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Tom Walsh, Ming K Lee, Silvia Casadei, Anne M Thornton, Sunday M Stray, Christopher Pennil, Alex S Nord, Jessica B Mandell, Elizabeth M Swisher, Mary-Claire King Proc Natl Acad Sci U S A 107 12629-33 2010
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. Summary Lars T van der Veken, Marianne Mj Dieleman, Hannie Douben, Judith C van de Brug, Raoul van de Graaf, A Jeannette M Hoogeboom, Pino J Poddighe, Annelies de Klein Mol Cytogenet 3 13 2010
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Benjam?n Rodr?guez-Santiago, N?ria Malats, Nathaniel Rothman, Llu?s Armengol, Montse Garcia-Closas, Manolis Kogevinas, Olaya Villa, Amy Hutchinson, Julie Earl, Ga?lle Marenne, Kevin Jacobs, Daniel Rico, Adonina Tard?n, Alfredo Carrato, Gilles Thomas, Alfonso Valencia, Debra Silverman, Francisco X Real, Stephen J Chanock, Luis A P?rez-Jurado Am J Hum Genet 87 129-38 2010
Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329 75-8 2010
Hints of hidden heritability in GWAS. Greg Gibson Nat Genet 42 558-60 2010
Genetic Signatures of Exceptional Longevity in Humans. Paola Sebastiani, Nadia Solovieff, Annibale Puca, Stephen W Hartley, Efthymia Melista, Stacy Andersen, Daniel A Dworkis, Jemma B Wilk, Richard H Myers, Martin H Steinberg, Monty Montano, Clinton T Baldwin, Thomas T Perls Science 2010
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 42 579-89 2010
Linking promoters to functional transcripts in small samples with nanoCAGE and CAGEscan. Charles Plessy, Nicolas Bertin, Hazuki Takahashi, Roberto Simone, Md Salimullah, Timo Lassmann, Morana Vitezic, Jessica Severin, Signe Olivarius, Dejan Lazarevic, Nadine Hornig, Valerio Orlando, Ian Bell, Hui Gao, Jacqueline Dumais, Philipp Kapranov, Huaien Wang, Carrie A Davis, Thomas R Gingeras, Jun Kawai, Carsten O Daub, Yoshihide Hayashizaki, Stefano Gustincich, Piero Carninci Nat Methods 7 528-34 2010
Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Ju-Hyun Park, Sholom Wacholder, Mitchell H Gail, Ulrike Peters, Kevin B Jacobs, Stephen J Chanock, Nilanjan Chatterjee Nat Genet 42 570-5 2010
Common SNPs explain a large proportion of the heritability for human height. Jian Yang, Beben Benyamin, Brian P McEvoy, Scott Gordon, Anjali K Henders, Dale R Nyholt, Pamela A Madden, Andrew C Heath, Nicholas G Martin, Grant W Montgomery, Michael E Goddard, Peter M Visscher Nat Genet 42 565-9 2010
Biases in Illumina transcriptome sequencing caused by random hexamer priming. Kasper D Hansen, Steven E Brenner, Sandrine Dudoit Nucleic Acids Res 38 e131 2010
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Stuart Macgregor, Alex W Hewitt, Pirro G Hysi, Jonathan B Ruddle, Sarah E Medland, Anjali K Henders, Scott D Gordon, Toby Andrew, Brian McEvoy, Paul G Sanfilippo, Francis Carbonaro, Vikas Tah, Yi Ju Li, Sonya L Bennett, Jamie E Craig, Grant W Montgomery, Khanh-Nhat Tran-Viet, Nadean L Brown, Timothy D Spector, Nicholas G Martin, Terri L Young, Christopher J Hammond, David A Mackey Hum Mol Genet 19 2716-24 2010
Regulation of MicroRNA Expression and Abundance during Lymphopoiesis Stefan Kuchen, Wolfgang Resch, Arito Yamane, Nan Kuo, Zhiyu Li, Tirtha Chakraborty, Lai Wei, Arian Laurence, Tomoharu Yasuda, Siying Peng, Jane Hu-Li, Kristina Lu, Wendy Dubois, Yoshiaki Kitamura, Nicolas Charles, Hong-wei Sun, Stefan Muljo, Pamela L Schwartzberg, William E Paul, John OShea, Klaus Rajewsky, Rafael Casellas Immunity
A High Density Integrated Genetic Linkage Map of Soybean and the Development of a 1536 Universal Soy Linkage Panel for Quantitative Trait Locus Mapping Crop Sci. 50 960–968
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