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SNP indel variant quality metrics and filtering (v2.6 or newer)
Hannes Pétur Eggertsson edited this page Apr 29, 2022
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v2.6 has all the same metrics as v2.5 and older, see page for v2.5 and older first. In v2.6 we introduced several new quality metrics tailored to multi-allelic variants that are specified for each alternative allele, instead of one metric for all alleles. These are:
- QDalt, ALT quality by depth
- SBalt, read strand bias per ALT
- MMalt, mismatch percentage in the graph alignment per ALT
- CRalt, clipped bases percentage in the graph alignment per ALT
- SDalt, alignment score difference (AS-XS) given by mapper per ALT
- MQalt, root-mean square mapping quality per ALT
We also trained a new logistic regression classifier, INFO/AAScore, which gives a score between 0 and 1 for each alternative allele.
For single sample calling it is recommended to keep only on the "FILTER=PASS" variants and additionally, in larger genotyping runs, we suggest to keep only alternative allelese with INFO/AAScore > 0.5. This threshold might be adjusted for different applications.