Now that Gordon Moore‘s genome variants are available as part of Ion Torrent’s publication in Nature this week, we’re announcing some work we’ve done analyzing an early, low-coverage version of these data.
Ion Flux has been building highly-scalable systems for analyzing personal genome data. One of these systems produces a gene panel consequence report. The report’s purpose is to indicate where variants have been detected in a group of genes and what, if any, are the consequences of the detected variants. We specifically chose to analyze a small panel of well-known cancer genes, for many of which treatment options are available or are in clinical trials.
You can have a look at some demo output of our gene panel consequence report. We emphasize that the information content of this report is based on pre-publication, low-coverage Ion Torrent data and is insufficient to make consequence claims with any acceptable level of confidence.