Ion Torrent Proton
Human-Scale Genome Sequencing
Whole genome sequencing (WGS) promises to fundamentally revolutionize numerous areas of life science research and to transform medicine. Although still in its infancy, the application of WGS has dramatically elucidated germline variants responsible for numerous heritable diseases. Importantly, WGS, through the use of trio studies, has helped uncover the role of de novo mutations in sporadic and inherited diseases. Genome sequencing of cancer cells has delivered remarkable insights into the complexity of cancer and identified new genes and biological pathways implicated in tumor initiation, progression, and metastasis.
Massively Parallel Sequencing Delivers Entire Genomes
Human-scale genome sequencing is the sequencing of an entire genome of an organism with a size measured in giga (109) base pairs. In addition to the human genome, this capability accommodates many eukaryotic genomes. The WGS workflow involves fractionating the entire genome into fragments that can be sequenced on a massively parallel next-generation sequencer. The sequencing reads generated from the fragments are then reassembled, and variants are determined through comparison to a reference genome.
Solutions for Whole Genome Sequencing
Whole genome sequencing is the definitive tool for discovering variation. Recent advances in terms of cost and speed have made whole genome sequencing more affordable and more accessible. Consider the following solutions to begin cost-effective, scalable human-scale genome sequencing studies in your lab:
The Ion Proton™ System, combined with the Ion PII™ Chip, will make human-scale genome sequencing accessible with a benchtop sequencer affordable to most laboratory budgets.