TOMA Biosciences is partnering with Real Time Genomics to develop clinical grade analysis tools to process next-generation sequencing data from all types of tumor samples, including tumor DNA circulating in the blood captured via a “liquid biopsy.” Their goal is to eliminate the inconsistent results that currently plague the field, as evidenced by the recent International Cancer Genome Consortium challenges.
Most laboratories profile tumors using analysis tools that were developed by academic research projects, like The Cancer Genome Atlas and the International Cancer Genome Consortium. The problem is that these tools require both tumor tissue and normal tissue samples, which are sequenced in parallel to help differentiate cancer somatic mutations from germline variants. However, most clinical pathology laboratories do not have access to normal tissue samples.
TOMA Biosciences and Real Time Genomics have come up with a solution — a ‘tumor-only’ somatic mutation caller tuned to the TOMA OS-Seq™ technology, which targets a large panel of clinically actionable cancer genes. This new analysis package accurately identifies somatic mutations and segregates them from germline variants, using next-generation sequencing data from tumor samples without a normal tissue sample. The researchers validated the tool with both simulated data and reference samples.
Dr. Francisco De La Vega, Vice President of Bioinformatics at TOMA Biosciences, recently presented their new algorithms and benchmarking results at the International Society for Computational Biology annual conference — showing that their new analysis software significantly outperforms the publicly available academic tools used by most laboratories.
For more information about this unique NGS analysis package, read our latest press release.