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fix: rename-contigs to include target bed intersection and add mapping files to resources #73

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Apr 22, 2024
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6 changes: 3 additions & 3 deletions .test/config/config.yaml
Original file line number Diff line number Diff line change
@@ -1,7 +1,7 @@
variant-calls:
dummy-giab:
path: "resources/variants/na12878/all.truth.bcf"
benchmark: "giab-na12878-exome"
# dummy-giab:
# path: "resources/variants/na12878/all.truth.bcf"
# benchmark: "giab-na12878-exome"
dummy-chm:
path: "resources/variants/chm-eval/all.truth.bcf"
benchmark: "chm-eval"
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13 changes: 13 additions & 0 deletions workflow/resources/rename-contigs/README.md
Original file line number Diff line number Diff line change
@@ -0,0 +1,13 @@
# rename-contigs
The reference is denoted in Ensembl notation. If the caller is using USCS notation, the contigs need to be renamed like
```
chr12
```
becomes
```
12
```

Two files are provided: One for GRCh38 as reference genome and one for GRCh37. The path to those files needs to be denoted in the user config to enable the `rename_contigs` rule.

The files were taken from [dpryan79/ChromosomeMappings](https://github.com/dpryan79/ChromosomeMappings).
93 changes: 93 additions & 0 deletions workflow/resources/rename-contigs/grch37_ucsc2ensembl.txt
Original file line number Diff line number Diff line change
@@ -0,0 +1,93 @@
chr1 1
chr2 2
chr3 3
chr4 4
chr5 5
chr6 6
chr7 7
chr8 8
chr9 9
chr10 10
chr11 11
chr12 12
chr13 13
chr14 14
chr15 15
chr16 16
chr17 17
chr18 18
chr19 19
chr20 20
chr21 21
chr22 22
chrX X
chrY Y
chrM MT
chr1_gl000191_random GL000191.1
chr1_gl000192_random GL000192.1
chr4_gl000193_random GL000193.1
chr4_gl000194_random GL000194.1
chr7_gl000195_random GL000195.1
chr8_gl000196_random GL000196.1
chr8_gl000197_random GL000197.1
chr9_gl000198_random GL000198.1
chr9_gl000199_random GL000199.1
chr9_gl000200_random GL000200.1
chr9_gl000201_random GL000201.1
chr11_gl000202_random GL000202.1
chr17_gl000203_random GL000203.1
chr17_gl000204_random GL000204.1
chr17_gl000205_random GL000205.1
chr17_gl000206_random GL000206.1
chr18_gl000207_random GL000207.1
chr19_gl000208_random GL000208.1
chr19_gl000209_random GL000209.1
chr21_gl000210_random GL000210.1
chrUn_gl000211 GL000211.1
chrUn_gl000212 GL000212.1
chrUn_gl000213 GL000213.1
chrUn_gl000214 GL000214.1
chrUn_gl000215 GL000215.1
chrUn_gl000216 GL000216.1
chrUn_gl000217 GL000217.1
chrUn_gl000218 GL000218.1
chrUn_gl000219 GL000219.1
chrUn_gl000220 GL000220.1
chrUn_gl000221 GL000221.1
chrUn_gl000222 GL000222.1
chrUn_gl000223 GL000223.1
chrUn_gl000224 GL000224.1
chrUn_gl000225 GL000225.1
chrUn_gl000226 GL000226.1
chrUn_gl000227 GL000227.1
chrUn_gl000228 GL000228.1
chrUn_gl000229 GL000229.1
chrUn_gl000230 GL000230.1
chrUn_gl000231 GL000231.1
chrUn_gl000232 GL000232.1
chrUn_gl000233 GL000233.1
chrUn_gl000234 GL000234.1
chrUn_gl000235 GL000235.1
chrUn_gl000236 GL000236.1
chrUn_gl000237 GL000237.1
chrUn_gl000238 GL000238.1
chrUn_gl000239 GL000239.1
chrUn_gl000240 GL000240.1
chrUn_gl000241 GL000241.1
chrUn_gl000242 GL000242.1
chrUn_gl000243 GL000243.1
chrUn_gl000244 GL000244.1
chrUn_gl000245 GL000245.1
chrUn_gl000246 GL000246.1
chrUn_gl000247 GL000247.1
chrUn_gl000248 GL000248.1
chrUn_gl000249 GL000249.1
chr4_ctg9_hap1 HSCHR4_1
chr6_apd_hap1 HSCHR6_MHC_APD
chr6_cox_hap2 HSCHR6_MHC_COX
chr6_dbb_hap3 HSCHR6_MHC_DBB
chr6_mann_hap4 HSCHR6_MHC_MANN
chr6_mcf_hap5 HSCHR6_MHC_MCF
chr6_qbl_hap6 HSCHR6_MHC_QBL
chr6_ssto_hap7 HSCHR6_MHC_SSTO
chr17_ctg5_hap1 HSCHR17_1
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