QV builder

Build a QV YAML by adding statement lines in a simple key=value format (quote values with spaces). Use meta for set info, filters and criteria for rules, and optional notes. The preview shows the structured YAML.

Examples

Click an example to copy it.

meta qv_set_id="qv_gwas_common_v1_20250827"

meta version="1.0.0"

meta title="GWAS common QC"

meta description="Common GWAS criteria expressed in tool-agnostic form"

meta created="2025-08-27"

meta authors=Alice,Bob

meta tags=GWAS,QC,PCA

note "implementations are hints only"

filter maf_minimum field=MAF operator=">=" value=0.01 desc="Minimum MAF"

filter hwe field=HWE_P operator=">=" value=1e-6 logic=keep_if

criteria pm2 field=gnomAD_AF operator="<" value=1e-6 logic=and desc="Absent or rare"

criteria ps5 field=IMPACT operator==" value=HIGH desc="Comp het with HIGH"

criteria ps5 group_by=sample,SYMBOL count=">=2"

filter region_include desc="include panel" field=OVERLAP(targets.exome.bed) operator=">=" value=1 logic=keep_if

criteria disease_panel logic=and desc="HIGH impact within panel"
criteria disease_panel field=IMPACT operator="==" value=HIGH
criteria disease_panel field=OVERLAP(targets.exome.bed) operator=">=" value=1

meta description_patient="There is a strong family history of early heart attacks. I would like clear information on any inherited cardiac risk and what I can do next."

meta description_ppie="The PPIE working group reviewed the qualifying criteria and approved the final protocol on 2025-08-15."

criteria ACMG_PVS1 logic=and description="Null variants (IMPACT == HIGH) in genes where loss of function causes disease. Includes homozygous variants, compound heterozygous cases, or dominant inheritance. Warning to phase check compound heterozygosity."
        criteria ACMG_PVS1 field=IMPACT operator="==" value=HIGH
        criteria ACMG_PVS1 group=any_of:start
        criteria ACMG_PVS1 field=genotype operator="==" value=2
        criteria ACMG_PVS1 field=Inheritance operator="==" value=AD
        criteria ACMG_PVS1 field=comp_het_flag operator="==" value=1
        criteria ACMG_PVS1 group=any_of:end

Add statement

YAML Preview

Added lines

Click a line to delete it.