Publications

Genetic polymorphism and response to treatment in chronic hepatitis C: The future of personalized medicine

Patients of different ancestry react differently to the recommended treatment for hepatitis C virus infections. Using GWAS, researchers identified a genetic variation that can be used to predict treatment outcome. More...

Asselah T Genetic polymorphism and response to treatment in chronic hepatitis C: The future of personalized medicine International Hepatology



Principles and challenges of genome-wide DNA methylation analysis

Understanding the role of DNA methylation is critical in normal and disease development research. Illumina offers array- and sequenicng-based methylation analysis solutions, enabling single-base to genome-wide studies. More...

Laird PW Principles and challenges of genome-wide DNA methylation analysis Nature Reviews Genetics



The genetic map of Artemisia annua L. identifies loci affecting yield of the antimalarial drug artemisinin

Deep sequencing of Artemisia annua resulted in a Quantitative Trait Locus (QTL) map identifying plants that yield higher levels of artemisinin, an active ingredient in the most effective malaria treatment. The GoldenGate assay was used to develop a high-throughput validation method for these SNP markers. More...

Graham IA, Besser K, Blumer S, Branigan CA, Czechowski T, et al. The genetic map of Artemisia annua L. identifies loci affecting yield of the antimalarial drug artemisinin Science



Complex landscapes of somatic rearrangements in human breast cancer genomes

Chromosomal rearrangements are more frequent in breast cancers than previously anticipated. Using Illumina paired-end sequencing somatic rearrangements in breast cancer genomes were identified. The study offers insight into the complexity of rearrangement patterns present in solid tumor genomes and highlights their potential contribution to cancer development. More...

Stephens PJ, McBride DJ, Lin M, Varela I, Pleasance ED, et al. Complex landscapes of somatic rearrangements in human breast cancer genomes Nature



3'-end sequencing for expression quantification (3SEQ) from archival tumor samples

This study presents a novel procedure, 3’-end sequencing for expression quantification (3SEQ), for gene expression profiling from formalin-fixed paraffin-embedded (FFPE) tissue samples. 3SEQ has the capacity to revolutionize gene expression profiling and predict clinically important phenotypes of large numbers of archival samples More...

Beck AH, Weng Z, Witten DM, Zhu S, Foley JW, et al. 3'-end sequencing for expression quantification (3SEQ) from archival tumor samples PLOS one



Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa

Ultra-high–throughput Illumina sequencing is used to screen MDH1, a candidate gene for retinitis pigmentosa that maps within a previously identified linkage interval. More...

Frio TR, Panek S, Iseli C, Di Gioia SA, Kumar A, et al. Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa Molecular Vision



Evolution of MRSA during hospital transmission and intercontinental spread

Tracing the microevolution of methicillin-resistant Staphylococcus aureus (MRSA) using high-throughput Illumina sequencing reveals global geographic lineage patterns. Mapping genome-wide SNPs and indels provides critical DNA sequence information for differentiating large numbers of pathogen isolates, identifying person-to-person transmission events, and formulating effective clinical strategies. More...

Harris SR, Feil, EJ, Holden MTG, Quail MA, Nickerson E, et al. Evolution of MRSA during hospital transmission and intercontinental spread Science



Parallel, tag-directed assembly of locally derived short sequence reads

Subassembly, a new method of in vitro library construction, aligns short, tagged Illumina sequencing reads into long fragments. Subassembled reads are demonstrated for de novo genome assembly and metagenome sequencing with read lengths approaching those of capillary sequencing, and for half the cost of pyrosequencing. More...

Hiatt, JB, Patwardhan RP, Turner EH, Lee C, Shendure J Parallel, tag-directed assembly of locally derived short sequence reads Nature Methods



A comprehensive catalogue of somatic mutations from a human cancer genome.

Sequencing a cancer genome using Illumina next-generation technology leads to remarkable insights into the forces that shape complex diseases. the whole-genome sequence of a melanoma cell line was compared to a lymphoblastoid cell line from the same individual, resulting in the first comprehensive catalog of somatic mutations from a human cancer genome. More...

Pleasance ED, Cheetham RK, Stephens PJ, McBride DJ, et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature