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broadinstitute / seqr

web-based analysis tool for rare disease genomics
GNU Affero General Public License v3.0
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Update MT constraint metrics display #4264

Open lynnpais opened 1 month ago

lynnpais commented 1 month ago

Is your feature request related to a problem? Please describe. We need to update the constraint metrics display for mt variants. Ben has completed the pipeline work #561 - https://github.com/broadinstitute/seqr-loading-pipelines/issues/561

Describe the solution you'd like Display the mitochondrial local constraint score (MLC) in a traffic light system like we do for the in silico tools High constraint is >=0.75 - red; 0.50-0.74 is yellow; <0.50 is green. Include the thresholds in the hover over and mention, "Based on Lake et al., 2023". There's no PMID yet.

hanars commented 1 month ago

@bpblanken confirming that we have actually run the pipeline and added these annotations to the prod data?

bpblanken commented 1 month ago

@hanars

Yep! https://github.com/broadinstitute/seqr-loading-pipelines/issues/561#issuecomment-2251177994