Uncovering Genome Variation With High Throughput Sequencing

High throughput sequencing has fundamentally changed genome discovery. The time that it takes to go from sample to genome now is days and costs hundreds of dollars, compared to just five years ago when it would have taken months and cost hundreds of thousands of dollars. Moreover, high throughput sequencing has enabled yet another interesting turn of events: sequencing has morphed into functional genomics. The ability to generate trillions of sequences at a time has turned sequencing into a genomics discovery tool for such applications as RNA expression analysis, metagenomics, DNA binding studies, histone and nucleosome mapping, and DNA methylation detection. Sequencing technologies have matured into platforms for molecular genome phenotyping, which has changed the paradigm and scale of understanding the link between genotype and phenotype. This fundamental shift has fueled the innovation of now emerging genome tools such as real time single molecule detection (Pacific Biosciences RS), and post-optic sequencing (ION Torrent/PGM), which are providing novel insight into genome variation.