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.