The Data Insights team at Roche Sequencing Solutions attended the Curating the Clinical Genome meeting in Hinxton, UK this year. The conference was a great opportunity to hear from individuals actively involved in use of genetics in the clinic and leading initiatives to define and improve the state-of-the-art for the field.
We are excited to introduce VarSim, a comprehensive tool for the validation of secondary analysis in high throughput sequencing. It assesses both alignment and variant calling accuracy through a simulation that is based on real experimental data, and is capable of handling a wide range of variants, including single nucleotide variants, small indels and large structural variants.
Currently, there are a host of secondary analysis pipelines for analyzing next-gen sequencing data. However, due to the lack of ground truth, validating and comparing the accuracy of these pipelines are challenging. There have been significant efforts towards developing approaches to accuracy validation, which range from simulating the NGS data to actually validating the results using orthogonal technologies. We, at Bina, make every effort to ensure that the accuracy of the analysis is not compromised.