broadinstitute / genetic-prevalence-estimator

https://genie.broadinstitute.org/
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Modify dashboard variant inclusion logic #293

Open sambaxter opened 2 weeks ago

sambaxter commented 2 weeks ago

For variants included in preliminary estimates, we should be removing any HC pLoF variant that has a clinvar classification of Benign or Likely Benign. I thought we had already done that but this example linked below has a bunch of them so I am not sure what is going on

Example (https://genie.broadinstitute.org/dashboard/ENSG00000174177)

image

sambaxter commented 2 weeks ago

Also found a couple of examples where it was pulling in variants from ClinVar based on "association" as the classification. This should also be removed from being included image

Example 1: HERC2

Example 2: CYP2C8