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feat: add seqc2 wgs and ffpe to presets (#82)
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famosab authored Jun 20, 2024
1 parent 111b4ec commit c475b0f
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19 changes: 19 additions & 0 deletions workflow/resources/presets.yaml
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Expand Up @@ -20,6 +20,25 @@ benchmarks:
- TVAF # name of tumor variant allele frequency
high-coverage: true

seqc2-wgs:
genome: seqc2-somatic
bam-url: https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/seqc/Somatic_Mutation_WG/data/WGS/WGS_NS_T_1.bwa.dedup.bam
grch37: false
vaf-field:
- INFO # either FORMAT or INFO
- TVAF # name of tumor variant allele frequency
high-coverage: true

seqc2-ffpe:
genome: seqc2-somatic
bam-url: https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/seqc/Somatic_Mutation_WG/data/FFX/FFX_IL_T_24h_1.bwa.dedup.bam
target-regions: https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/seqc/Somatic_Mutation_WG/technical/reference_genome/Exome_Target_bed/S07604624_Covered_human_all_v6_plus_UTR.liftover.to.hg38.bed6.gz
grch37: false
vaf-field:
- INFO # either FORMAT or INFO
- TVAF # name of tumor variant allele frequency
high-coverage: true

imgag-5:
genome: na12878-somatic
bam-url: https://download.imgag.de/public/validation_dataset_somatic/NA12878x3_23_NA12877_21_5.bam
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