Data Acquisition and Basic Analyses: Illumina
Illumina Miseq Reporter Software The MiSeq system is the first desktop sequencer to offer a fully integrated sequencing ecosystem and provides automated downstream secondary analysis following basecalling by the MiSeq system. After defining a workflow in Illumina’s Experiment Manager, the MiSeq Reporter software launches automatically post-sequencing to perform a variety of anlyses: library QC, demultiplexing, generation of FASTQ files, alignment, variant detection, and VCF generation.
Detect, Characterize. Genomic research continues to identify mutations associated with specific cancers and, in combination with clinical research, to identify their clinical relevance to a specific cancer and the prognosis/treatment for patients. While some mutations may be pathogenic, some are benign. Mutation profiling allows us to identify which mutations are present, determine clinical significance of those mutations, and identify pathogentic mutations with actionable therapies. To this end, mutation profiling using next generation sequencing and targeted cancer-specific panels allows us to detect mutations across multiple genes simultaneously and to screen patient susceptibility to a specific cancer.