Showing docs for version 3.7-0
HardyWeinberg
Hardy-Weinberg test for transmission disequilibrium
Category
Annotation Modules
VCF Field
INFO (variant-level)
Type
ExperimentalAnnotation
Header definition line
INFO=<ID=HW,Number=1,Type=Float,Description="Phred-scaled p-value for Hardy-Weinberg violation">
Overview
This annotation estimates whether the frequencies of alleles and genotypes in a population stay the same from generation to generation.
Statistical notes
The output is a Phred-scaled P value. See the method document on statistical tests for a more detailed explanation of the Hardy-Weinberg test.
Caveats
- This annotation requires multiple samples.
- This is an experimental annotation. As such, it is unsupported; we do not make any guarantees that it will work properly, and you use it at your own risk.
- Low confidence genotypes are ignored, which may adversely affect HW ratios. More analysis is needed to determine the right thing to do when the genotyper cannot decide whether a given sample is heterozygous or homozygous variant.