Truwl , a Montana-based bioinformatics company, announced that it is releasing a free version of its germline variant-calling benchmarking workflow to remove cost as a barrier to advancing important genomics research.
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“We wanted to help all scientists get dependable benchmarking results fast without worrying about the cost,” said Karl Sebby, Ph.D., CEO, and co-founder of Truwl. “We will all benefit when scientists have the tools to drive discoveries that improve human health.”
The workflow allows users to upload a variant call file (VCF) from their own analysis of the extensively characterized HG002 reference sample. It then compares the submitted VCF to the Genome in a Bottle (GIAB) reference set and measures how well the submitted VCF performs versus winners in the PrecisionFDA v2 challenge. Truwl’s community features allow a user to optionally save and share the results as independent evidence of their method’s performance.
Truwl chose to release variant benchmarking as its first free community edition workflow because of a widespread yet underserved need to benchmark variant calling workflows, both for computational tool development and validation of genomic assays. The company plans to release more community edition workflows that will increase the community’s collective bioinformatics capabilities.
Truwl coordinated with the GIAB team at the National Institute of Science and Technology (NIST) to ensure their product followed best practices. Sebby said: “The GIAB team was extremely helpful with our efforts. They requested an option for users to share results with NIST as a way for them to continue improving their reference sets. We were happy to help strengthen that important resource.”
Truwl’s proprietary platform allows life sciences researchers and the biomedical community to find, evaluate, and apply computational methods. The company works with genomics testing laboratories for bioinformatics workflow optimization, validation, and performance monitoring; collaborative projects to provide access to standardized data processing capabilities; genomics assay providers to increase access to bioinformatics for their customers; and bioinformatics methods developers to expand the reach and impact of their methods.