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example_config.yml
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example_config.yml
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---
#add dataset directory name instead of "example_dataset" and the number of lanes used by this Illumina run; more than one dataset can be added
datasets:
example_dataset:
lanes: [1]
#see README for the download links of these references
references:
fasta: "reference_index/hs37d5.fa" # path to reference genome (here 1000G phase2 human reference)
bwa: "reference_index/hs37d5.fa" # name of bwa index for this reference sequence, can be the same as "fasta" depending where your BWA index files are or whether you defined another name
inv: "input/example_dataset/hemomips_inv_ref.fa" #path to inversion fasta file including bwa index, not needed if parameters:inv: "no"
annotation: "known_variants/phase1_release_v3.20101123.snps_indels_svs.on_target.vcf.gz"
fasta2: "vep_cache/homo_sapiens/98_GRCh37/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa.gz" # path to reference fasta within VEP cache (see also output from installing the cache)
tools:
vep_cache: "vep_cache/" # Cache folder for Ensembl VEP
parameters:
inv: "yes" #set to "yes" when inversion design is provided
paired_end_reads: "yes" #set to "yes" when paired-end sequencing is applied
double_index: "no" #set to yes when double indexing is applied
vep-version: 98 #vep version, recommended v98
vep-species: "homo_sapiens" #vep cache species
vep-assembly: "GRCh37" # vep cache genome assembly
transcripts: "#|ENST00000360256|ENST00000218099" # list of considered transcripts separated by pipes, do not remove the leading hash and pipe.
GATK:
- gatk4
# - gatk3
...