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An external user reached out to Mark for guidance on how to interpret variants that are flagged as failing our variant QC model (AS_VQSR). After some discussion, we came to the conclusion that it could be helpful to include a designation for which annotation was marked AS_culprit for variants that are flagged with AS_VQSR.
The public exomes and genomes release HTs include this annotation in the vqsr_results struct:
For example, this variant fails AS_VQSR in the v4 genomes, and checking the v4 genomes release HT shows that the AS_culprit for this variant is AS_ReadPosRankSum:
Would it be possible to visually designate which metric is the AS_culprit in the Site Quality Metrics table (e.g., bolding, adding an asterisk, changing text color, etc)?
Also, for additional context, the descriptions of these fields are:
vqsr_results: VQSR related variant annotations.
- AS_VQSLOD: Allele-specific log-odds ratio of being a true variant versus being a false positive under the trained VQSR Gaussian mixture model.
- AS_culprit: Allele-specific worst-performing annotation in the VQSR Gaussian mixture model.
- positive_train_site: Variant was used to build the positive training set of high-quality variants for VQSR.
- negative_train_site: Variant was used to build the negative training set of low-quality variants for VQSR.
The text was updated successfully, but these errors were encountered:
An external user reached out to Mark for guidance on how to interpret variants that are flagged as failing our variant QC model (
AS_VQSR
). After some discussion, we came to the conclusion that it could be helpful to include a designation for which annotation was markedAS_culprit
for variants that are flagged withAS_VQSR
.The public exomes and genomes release HTs include this annotation in the
vqsr_results
struct:For example, this variant fails AS_VQSR in the v4 genomes, and checking the v4 genomes release HT shows that the
AS_culprit
for this variant isAS_ReadPosRankSum
:Would it be possible to visually designate which metric is the AS_culprit in the Site Quality Metrics table (e.g., bolding, adding an asterisk, changing text color, etc)?
Also, for additional context, the descriptions of these fields are:
The text was updated successfully, but these errors were encountered: