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ref_map

William Rowell edited this page Sep 9, 2025 · 3 revisions

Reference Map File Specification

Type Key Description Notes
String name Short name for reference Alphanumeric characters, underscores, and dashes only. Will be used in file names.
File fasta Reference genome FASTA
File fasta_index Reference genome FASTA index
File trgt_tandem_repeat_bed Tandem Repeat catalog (BED) for TRGT genotyping [./trgt.md]
File sawfish_exclude_bed Regions to be excluded for Sawfish CNV calls in gzipped BED format link
File sawfish_exclude_bed_index BED index link
File sawfish_expected_bed_male Expected allosome copy number BED for XY samples link
File sawfish_expected_bed_female Expected allosome copy number BED for XX samples link
File methbat_region_tsv Regions for MethBat methylation profiling in tab-separated format link
File pharmcat_positions_vcf PharmCAT positions VCF
File pharmcat_positions_vcf_index PharmCAT positions VCF index

PacBio WGS Variant Pipeline

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Subworkflows

Reference Inputs and Dependencies

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