WHITE FISH, Mont., February 4, 2022 /PRNewswire/ — Truwl (https://truwl.com), a Montanabased on bioinformatics, announced that it is releasing a free version of its germline variant calling benchmarking workflow to eliminate cost as a barrier to advancing important genomics research.
“We wanted to help all scientists quickly get reliable benchmarking results without worrying about cost,” said Karl Seby, Ph.D., CEO and co-founder of Truwl. “We will all benefit when scientists have the tools to make 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) benchmark set and measures the performance of the submitted VCF against the winners of the PrecisionFDA v2 challenge. Truwl’s community features allow a user to record and optionally share results as independent evidence of their method’s performance.
Truwl chose to release Variant Benchmarking as its first free community editing workflow due to a widespread but underserved need to benchmark variant calling workflows, both for development computer tools and the validation of genomic tests. The company plans to release more community editing workflows that will increase the collective bioinformatics capabilities of the community.
Truwl coordinated with the National Institute of Science and Technology (NIST) GIAB team to ensure its product followed best practices. Sebby said: “The GIAB team has been extremely helpful in our endeavours. They requested an option for users to share results with NIST so they can continue to improve their benchmark sets. We were happy to help strengthen this important resource.
The Community Variant Call Benchmarking Workflow can be accessed at https://truwl.com/workflows/ce/variantbenchmarking.
Truwl’s proprietary platform enables life science researchers and the biomedical community to find, evaluate and apply computational methods. The company works with genomics testing labs for bioinformatics workflow optimization, validation, and performance monitoring; collaborative projects to provide access to standardized data processing capabilities; genomic testing providers to increase access to bioinformatics for their customers; and bioinformatics method developers to extend the reach and impact of their methods.