AstraZeneca-NGS / VarDict

VarDict
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VAF ~ 1% #181

Open lmanchon opened 1 year ago

lmanchon commented 1 year ago

--Hi,

how to set Vardict to detect variants with VAF ~ 1%, which parameters can increase sensitivity ?

than you --

PolinaBevad commented 1 year ago

Hello! Usually you can set -f 0.01 and this will work as originally VarDict was developed to call low AF variants (<0,1%). Most of the default quality options, mean position, realignment module, etc. should work as is with Illumina sequencing data.

lmanchon commented 1 year ago

--Hi, thank you for your answer. and i have just another question: is there a somatic and germline search mode like with Strelka software ? thank you --

PolinaBevad commented 1 year ago

Default 'single sample' mode is when you provide one BAM file. It will call all the variants without any germline or somatic assumptions. Also there is 'paired' mode when you provide both normal and tumor BAM files so you can classify variants as somatic/germline/LOH/etc: https://github.com/AstraZeneca-NGS/VarDict/wiki/Variant-classification-in-paired-analysis

lmanchon commented 1 year ago

can you suggest me parameters to increase the sensitivity of detection of variants quite to remove filters on the quality of sequences or alignments ?

PolinaBevad commented 1 year ago

Default base quality threshold is 22.5 (-q option), and also ratio of high-quality reads to low-quality reads (qratio) is 1.5 (-o option) so you can adjust it if you know that quality is underestimated by sequencer. We have the explanation of default filtering algorithm in Java version docs: https://github.com/AstraZeneca-NGS/VarDictJava/blob/master/Readme.md#variant-filtering Also there is a useful pileup (-p option) mode that disable all filters so you can see variants values to check why they were filtered out. It will also output reference bases but this can be filtered out downstream.

lmanchon commented 1 year ago

ok thank you so much for this help

lmanchon commented 1 year ago

typicaly VarDict use recalibrated bam as input or not, i know freebayes prefer not recalibrated bam