Skip to content

Allow IUPAC codes on Match alleles#67

Open
Cristianetaniguti wants to merge 2 commits into
developmentfrom
SAT-151-allow-iupac-codes-on-match-alleles
Open

Allow IUPAC codes on Match alleles#67
Cristianetaniguti wants to merge 2 commits into
developmentfrom
SAT-151-allow-iupac-codes-on-match-alleles

Conversation

@Cristianetaniguti

@Cristianetaniguti Cristianetaniguti commented Jul 2, 2026

Copy link
Copy Markdown
Collaborator

HapApp pipelines only replaces IUPAC codes present in the Ref and Alt alleles. IUPAC codes present in Match alleles should be ignored by the BIGr SNP calling algorithms.

  • Decide if Ref and Alt with same IUPAC code should be kept or not. Example:
"AAGAAGTCAACCAGGC[R]CAAACCCAACCAAGCCTCCTTTTGGACTTCGAGGATTAAAGTACAGAACAAAATTTTGGCCTGGAACATTTTCAGCAGGTACTGATGCTCCT"
"AAGAAGTCAACCAGGC[R]CAAACCCAACCACGCCTCCTTTTGGACTTCGAGGATTAAAGTACAGAACAAAATTTTGGCCTGGAACATTTTCAGCAGGTACTGATGCTCCT"
  • Change check MADC to distinguish Ref/Alt IUPAC from Match IUPAC
  • Change madc2vcf_all to ignore IUPAC codes

@Cristianetaniguti Cristianetaniguti added the in_progress not ready to merge label Jul 2, 2026
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment

Labels

in_progress not ready to merge

Projects

None yet

Development

Successfully merging this pull request may close these issues.

1 participant