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Summarize

The summarize command adds new INFO fields and FORMAT tags that combine variant data from the merged VCF. It will only work with VCF files that have been translated.

images/summarize.jpg

Summarizing Format Tags : The Jacquard-translated format tags from each caller are aggregated to create summary format tags.

Usage

$ jacquard summarize <input_file> <output_file>

positional arguments:

input_file
Jacquard-merged VCF file (or any VCF with Jacquard tags; e.g. JQ_SOM_MT)
output_file
A single VCF file

Description

The summarize command uses the Jacquard-specific tags to aggregate caller information from the file, providing a summary-level view. Summary fields (e.g. average allele frequency) can highlight interesting variants.

The summarized format tags contain the prefix 'JQ_SUMMARY'.

Example summary FORMAT tags

Tag name Description
JQ_SUMMARY_AF_AVERAGE
Average allele frequency across recognized variant
callers that reported frequency for this position
[average(JQ_*_AF)].
JQ_SUMMARY_AF_RANGE
Max(allele frequency) - min (allele frequency)
across recognized callers.
JQ_SUMMARY_HC_GT
High confidence consensus genotype (inferred from
JQ_*_GT and JQ_*_CALLER_PASSED). Majority rules;
ties go to the least unusual variant (0/1>0/2>1/1).
Variants which failed their filter are ignored.
JQ_SUMMARY_SOM_COUNT
Count of recognized variant callers that reported
confident somatic call for this sample-position.

Refer to the summary VCF metaheaders for a full list of summary tags and descriptions.