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@bartcharbon bartcharbon commented Nov 26, 2025

Before submitting this PR, please make sure:

  • You have updated documentation for new/updated/removed features
  • You have added tests
  • You have manually run tests using bash test/test.sh and verified that all tests pass
    cram/complex | PASSED | 492101=completed output/cram/complex/.nxf.log
    cram/multiproject | PASSED | 492102=completed output/cram/multiproject/.nxf.log
    cram/nanopore_duo | PASSED | 492103=completed output/cram/nanopore_duo/.nxf.log
    cram/nanopore | PASSED | 492104=completed output/cram/nanopore/.nxf.log
    cram/single | PASSED | 492105=completed output/cram/single/.nxf.log
    cram/trio | PASSED | 492106=completed output/cram/trio/.nxf.log

@bartcharbon bartcharbon marked this pull request as ready for review November 28, 2025 12:31
snv {
GRCh38 {
reference {
haploidContigs = "chrX,chrY"
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add chrY_KI270740v1_random?

GRCh38 {
reference {
haploidContigs = "chrX,chrY"
parRegionsBed = "${VIP_DIR_DATA}/resources/GRCh38/GRCh38_PAR_20251126.bed"
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add a doc with source or instructions how to recreate file

| cram.call_sv | true | enable/disable the detection of structural variants. disable this manually in case of non-paired-end Illumina data. |
| snv.GRCh37.reference.haploidContigs | | |
| snv.GRCh37.reference.parRegionsBed | | |
| snv.GRCh38.reference.haploidContigs | chrX,chrY | chromosomes that should be considered haploid for male samples |
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add chrY_KI270740v1_random?

@dennishendriksen dennishendriksen merged commit 3e8985b into main Dec 1, 2025
1 check passed
@dennishendriksen dennishendriksen deleted the fix/X_Y_deepvariant branch December 1, 2025 11:34
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3 participants