galaxyproject / galaxyproject/training-material

Potential issue in 'Calling variants in non-diploid systems'

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Description

In the section 'Calling non-diploid variants > Filtering variants' I think the suggested filters for SRP, SAP and EPP are incorrect and should be 'SAP < 20' etc (i.e. select for low biases rather than high values). These metrics quantify the probability of observing the strand distributions assuming random allocations between e.g. forward and reverse strands, so a high phred-score indicates the observed distribution is extreme/highly unlikely (therefore indicating a strand bias).

The selected variants after filtering show high strand bias (e.g. chrM pos 3243 variant: SAF = 443, SAR = 922, with a high SAP = 368.01) whereas some of the variants removed have more balanced strand distributions (e.g. chrM pos 263 variant: SAF = 172, SAR = 192, with a lower bias SAP = 5.39). Perhaps the interpretation of these scores could be clarified in this section @nekrut @astrovsky01?

Contributor guide

Open the contributing guide

Research direction

Start in the training-material section “Calling non-diploid variants > Filtering variants” and compare the documented SRP, SAP, and EPP filters with the metric definitions. Use the chrM examples in the issue to verify the interpretation; done means the filters select low bias scores and the explanation matches the corrected behavior.

Written by the indexing model from the issue text.

Assessment

Domain
bioinformatics, documentation
Issue type
Documentation
Difficulty
2/5
Estimated time
1-3 hours
Activity status
Stale
Clarity
Mostly clear
Newbie friendliness
48/100

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