Seven Bridges Introduces Open Source Cancer Genomics Workflow

John Otrompke | Bio IT World | August 20, 2014

Seven Bridges, a Cambridge company that builds tool to help scientists process genomic data, has created a cloud-based workflow for analyzing cancer genomes. The workflow was presented at the Biology of Genomes conference at Cold Spring Harbor in May.

When scientists are running a cancer genome analysis, “a typical database query will return millions of genetic variants. This is too much for human processing and needs to be prioritized,” said Lu Zhang, PhD, director of R&D cancer informatics at Seven Bridges. “The main advantage of this pipeline is that it uses algorithms to review large amounts of information that currently has to be manually reviewed by experts before they can arrive at hypotheses. We believe this is one of the critical problems, and our team is dedicated to building a great application around it.”

“The workflow includes databases with a catalogue of genetic tumor variants, derived from whole genome sequencing and exome sequencing, from the 1000 Genomes project, and other information. After processing, it outputs the following information: disease-causing mutations, gene function, pharmacogenomics, and a prognosis for treatability,” explained Zhang...