Applications Supported

DNA Sequencing

DNA sequencing has a broad range of applications such as the discovery and confirmation of SNPs; identification of rare variants; and the identification of insertions, deletions and chromosomal re-arrangements.

Whole-genome Re-sequencing
This is the sequencing of whole genomes where the sequenced reads can be mapped against a published reference sequence.

De novo Sequencing
If the genome of interest does not have a published reference sequence it will require de novo assembly from the sequenced reads.

Targeted Re-sequencing
Where only specific regions of the genome are to be investigated an amplicon or targeted capture approach can be utilised. Genomic Services offer a complete All Exon Sequencing service.

Transcriptome Analysis

The transcriptome of an organism can now be analysed in much greater depth allowing all transcriptional activity, coding and non-coding to be investigated.

mRNA-SEQ Transcript Re-sequencing
Allows the determination of the relative abundance of poly-A transcripts, the discovery of transcript isoforms, and the characterisation of splice junctions. Gene expression levels can also be analysed on an array, please see the High-Throughput Array page for further details.

Small RNA Discovery and Analysis
Determine the abundance of small RNA populations such as microRNAs and discover rare small RNA. In addition, mRNA samples can be used to generate strand-specific reads.

Gene Regulation

The epigenetic interactions and their effects on gene expression are at the forefront of genetics and can be accurately surveyed.

ChIP-SEQ
This technique combines chromatin immunoprecipitation and High Throughput sequencing to accurately quantify in vivo protein-DNA interactions on a genome-wide scale.

Methylation status
The methylome can be characterised to a single base resolution by sequencing bisulphite-treated DNA.

Publications

Further details of all of the above techniques and their applications can be found in publications which are shown at http://www.illumina.com/publications/overview.ilmn