This section is being developed to independently benchmark automated assessment tools for therapeutic actionability assessments against manually curated datasets generated and assessed by trained N1C assessors.
Developers 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.