Skip to content

Document ANGSD VCF allele convention - #667

Open
thierrygosselin wants to merge 1 commit into
ANGSD:masterfrom
thierrygosselin:docs-clarify-vcf-allele-convention
Open

thierrygosselin wants to merge 1 commit into
ANGSD:masterfrom
thierrygosselin:docs-clarify-vcf-allele-convention

Conversation

@thierrygosselin

Copy link
Copy Markdown

Summary

ANGSD’s VCF/BCF output uses the inferred major and minor alleles for genotype-likelihood and genotype-probability ordering. This can be confusing because the major allele may be written as VCF REF, rather than the reference-genome allele.

This documentation clarifies that:

  • ANGSD may write the major allele as REF;
  • the minor allele is written as ALT;
  • the assembly reference allele is recorded separately as INFO/RA when available;
  • GL, GP and PL values are ordered as major/major, major/minor and minor/minor;
  • downstream software should check allele orientation before combining ANGSD output with reference-oriented VCF files.

No allele-ordering or likelihood calculations were changed.

This clarification is related to the allele-polarization question raised in issue #278, but does not change ANGSD’s polarization or SFS calculations.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Labels

None yet

Projects

None yet

Development

Successfully merging this pull request may close these issues.

1 participant