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Madc2vcf and Pedigree functions updates - #54

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alex-sandercock merged 61 commits into
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ped_indels_update
Apr 22, 2026
Merged

Madc2vcf and Pedigree functions updates #54
alex-sandercock merged 61 commits into
developmentfrom
ped_indels_update

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@Cristianetaniguti

@CristianetanigutiCristianetaniguti commented Mar 27, 2026

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Updates on madc2vcf functions

Details:

  • If verbose = TRUE, the functions output informative messages along the process
  • both functions (targets and all (targets + off-targets) markers now have check_madc_sanity function implemented. It tests:
    • [Columns] If MADC has the expected columns
    • [allNArow | allNAcol] Presence of columns and rows with all NA (happens often when people open the MADC in excel before loading in R)
    • [IUPACcodes] Presence of IUPAC codes on AlleleSequence
    • [LowerCase] Presence of lower case bases on AlleleSequence
    • [Indels] Presence of Indels
    • [ChromPos] If CloneID follows the format Chr_Pos
    • [RefAltSeqs] If all Ref Allele has corresponding Alt and vice-versa
    • [OtherAlleles] If "Other" exists in the MADC AlleleID
  • madc2vcf_targets doesn’t run if:
    • MADC Column names are not correct
    • Ignore Other alleles - but inform the user if they exist or not and direct them to madc2vcf_all in case they want to extract them as well
  • See the table for madc2vcf_targets requirements accordingly to MADC content:
check statusget_REF_ALTRequires
IUPACTRUETRUEmarkers_info REF/ALT
TRUEFALSE-
FALSETRUEbotloci or markers_info REF/ALT
FALSEFALSE-
IndelsTRUETRUEmarkers_info REF/ALT
TRUEFALSE-
FALSETRUEbotloci or markers_info REF/ALT
FALSEFALSE-
ChromPosTRUETRUEbotloci or markers_info REF/ALT
TRUEFALSE-
FALSETRUEmarkers_info CHR/POS/REF/ALT or markers_info CHR/POS/ + botloci
FALSEFALSEmarkers_info CHR/POS
FixAlleleIDsTRUETRUEbotloci or markers_info REF/ALT
TRUEFALSE-
FALSETRUEmarkers_info REF/ALT
FALSEFALSE-
  • madc2vcf_targets got a new argument: collapse_matches_counts, if TRUE, it collapses the read counts of the RefMatch to Ref and AltMatch to Alt. Default is FALSE.

  • madc2vcf_all have three new arguments: add_others, others_max_snps, others_rm_with_indels

  • Users now have the option to generate multiallelic VCF - new function madc2vcf_multi

  • madc2vcf_all doesn’t run if:

    • MADC Column names are not correct
    • If it is raw MADC
    • If it has IUPAC codes
  • See the table for madc2vcf_all requirements accordingly to MADC content:

Check statusRequires
IndelsTRUEmarkers_info REF/ALT/IndelPos/IndelLenght + botloci
FALSEbotloci
ChromPosTRUEbotloci
FALSEmarkers_info CHR/POS + botloci
RefAltSeqsTRUEbotloci
FALSEbotloci + microhapdb
  • madc2vcf_multi doesn’t run if:

    • MADC Column names are not correct
    • If it is raw MADC
    • If it has IUPAC codes
    • if there are absent Ref or Alt tags
  • See the table for madc2vcf_all requirements accordingly to MADC content:

Check statusRequires
IndelsTRUEbotloci
FALSEbotloci
ChromPosTRUEbotloci
FALSEmarkers_info CHR/POS + botloci

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4 participants

@Cristianetaniguti@alex-sandercock@josuechinchilla