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Variant classification in paired analysis
Zhongwu Lai edited this page Jun 9, 2015
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In paired analysis, VarDict will classify each variant into the following types that are propagated into STATUS info tag after var2vcf_paired.pl script.
When both samples have coverage for the variant:
- Germline: detected in germline sample (pass all quality parameters)
- StrongSomatic: detected in tumor sample only
- LikelySomatic: the variant has at least one read support OR allele frequency < 5% (defined by –V option with default 0.05)
- StrongLOH: detected in germline sample only, opposite of StrongSomaitc
- LikelyLOH: detected in germline but either lost in tumor OR 20-80% in germline, but increased to 1-opt_V (95%).
- AFDiff: detected in tumor (pass quality parameters) and present in germline but didn’t pass quality parameters.
When only one sample has coverage for the variant:
- SampleSpecific: detected in tumor sample, but no coverage in germline sample (it’s more technical than biological, as it’s unlikely a tumor sample can gain a piece of sequence in reference that germline sample lacks).
- Deletion: detected in germline sample, but no coverage in tumor sample
These are only rough classification. You need to examine the p-value (after testsomatic.R script) to determine whether or not it's significant.