Endocrine Abstracts

Providing access to cutting edge technology and expertise in data analysis, the Genomic Services group at the WTCHG are empowering users to drive the pace of research into the underlying mechanisms of disease.

The decade since the publication of the first full human genome has seen the development of sequencing technologies, fuelled by competitive pressure and the challenge of the $1000 genome. The latest High Throughput Sequencing platforms from LifeTechnologies; SOLiD 4 and Illumina; HiSeq2000 are now capable of generating ~300 Gb of high quality data, equivalent to 10 full human genomes at 10× coverage from a single ~10 day run. A third wave of single molecule sequencing platforms is now available from Helicos Biosciences and Pacific Biosciences and other companies are working on revolutionary technologies that could herald the dawn of a new age of routine genome sequencing and personalized medicine.

The current platform at the WTCHG, Illumina HiSeq2000, is capable of supporting a wide variety of applications that are changing research. Applications range from whole genome to all exon re-sequencing for studies of complex disease traits, allowing variants to be detected. The world of expression analysis is now becoming cost effective through sequencing. Not only is RNA-Seq more sensitive than microarray for relative gene expression, its dynamic range is larger, allowing identification of allele specific expression, splice variants, SNPS and regulatory RNA’s. Coupled with this, applications have been developed to support genome-wide epigenetic analysis.

With researchers rapidly developing new protocols to allow them to make use of High Throughput Sequencing for their own research, this is just the beginning …