The 5500xl SOLiD™ System is a ligation-based next-generation sequencing (NGS) platform. We are able to study biological variation through the system applications such as targeted resequencing, whole genome resequencing, RNA-Seq, and ChIP-Seq. Hence, the human genome, transcriptome and epigenome can be investigated in our laboratory for disease-causing or susceptibility mutations and variants.
The sequencer has a twelve-lane capacity. With the barcoding of samples, 96 samples can be sequenced in parallel per lane. The high-throughput platform can generate 10–15 Gb/day of data. Our NGS pipeline utilizes an automated liquid handling robot, which allows us to process 96 samples automatically per preparation of samples. Sequencing data generated are aligned to the latest human genome reference sequence available and annotated by the Lifescope Workstation v2.5.1™.
Clinical diagnosis of neurodegenerative diseases can be challenging due to variable clinical presentations and rates of progression. Coupling genetic information with clinical observations can provide a more thorough and precise categorization of neurodegenerative disorders. Targeted next-generation sequencing panels have proven useful in discerning the genetic diseases with heterogeneous phenotypes. We have developed a cost-effective and high-throughput custom screening panel for neurodegenerative diseases in a single assay. This panel is comprised of 172 genes known to be implicated in many forms of neurodegenerative diseases. Therefore, the detection of genetic mutations is not restricted by sample diagnosis, allowing for a broader observation of neurodegenerative diseases as a whole. Through target-capture panels, we hope to streamline the discovery of known and novel variants, ultimately changing the current approach to medical genetic research.