question: does the Exomiser team have long-term plans to support ACMG v4 guidelines?

[TimD1]

Background

There is an ACMG/AMP/CAP/ClinGen working group that is developing a new draft "Standards for Sequence Variant Classification" (v4) to replace the current 2015 guidelines by Richards et al (v3).

Question

Are there any long-term plans to add support for the ACMG V4 guidelines to Exomiser? No worries if that is considered out-of-scope for future development. I'm just curious if this has been discussed at all, and if so, if any decision has been made.

Resources

• Google Drive, Flowcharts and Slides

[julesjacobsen]

Hi Tim. Yes, this is something we've been keeping an eye on, but we will be waiting for the final guidelines to be published as these are still in draft.