Following feedback from users and advice from our new clinical advisor, we have significantly improved our ACMG classification:
- we have added tests for conservation using GERP
- improved repeat regions
- adjusted some of the thresholds used
- implemented two new rules: BP3 and BP7
- and improved the explanations when rules are not triggered
We hope you find these changes useful and do please continue to send us feedback or suggestions so we can continue to improve our tools for analysis of NGS data for panels, exomes and genomes.
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