This section is being developed to independently benchmark automated assessment tools for therapeutic actionability assessments against a protected manually curated dataset generated by trained N1C assessors.
Developers from academia and industry can submit tools for thorough evaluation, including benchmarking against a dataset of manually assessed variants. For each tool, we will provide a standardized report and publish the results openly through the N1C Gene Registry.
Semi-automated variant eligibility assessment using the N1C v2.0 VARIANT guidelines.