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config.yaml
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path:
# fastq: '/home/m.mendeville/MPS-408/WES/fastq'
fastq: 'fastq'
variant: 'variant'
copywriter: 'copywriter'
qc: 'qc'
bam: 'bam'
log: 'log'
covariance: 'CovMetrics'
temp: 'temp'
sampleList: 'SamplesTable.tsv'
platform:
SRorPE: 'PE'
prefix: ['_R1_001', '_R2_001']
cutadapt:
adapter: ["AGATCGGAAGAGCACACGTCTGAACTCCAGTCAC", #standard Illumena
"AGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGT"]
all:
REF: /net/nfs/PAT/archive/Yongsoo/Resource/fasta/hg19.chr.fa
THREADS: 18
Java_mem: -Xmx4g
targets: /net/nfs/PAT/archive/Yongsoo/Resource/KAPA_New_Exome/KAPA_HyperExome_hg19_primary_targets.bed
bait_intervals: /net/nfs/PAT/archive/Yongsoo/Resource/KAPA_New_Exome/KAPA_New_Exome_bait_intervals_HG19_reordered.txt
target_intervals: /net/nfs/PAT/archive/Yongsoo/Resource//KAPA_New_Exome/KAPA_New_Exome_target_intervals_HG19_reordered.txt
dbsnp: /net/nfs/PAT/archive/Resource/dbSNP/b151/All_20180423.vcf.gz
clinvar: /net/nfs/PAT/archive/Resource/dbSNP/b151/clinvar_20180701.vcf.gz
Cosmic: /net/beegfs/cfg/tgac/Resource/data/ref/cosmic/hg19_v84_2018/CosmicCodingMuts.vcf
gnomAD: /net/nfs/PAT/archive/Resource/dbSNP/2.0.2/retagged_gnomad.exomes.r2.0.2-AF.vcf.gz
HMF_PON: /net/nfs/PAT/archive/Resource/data/blacklist/HMF_PON/PON.vcf.gz
HG19_DICT: /net/nfs/PAT/archive/Resource/fasta/hg19.chr.dict
trim:
min_len: 20
LoFreq:
min_cov: 10
min_mq: 20
min_bq: 20
min_alt_bq: 20
max_depth: 1000
sig: 0.05
af_min: 0.05
cov_min: 15
sb_alpha: 0.05
#SnpSift_filter: "(DP4[2]>2) & (DP4[3]>2) & ((na HRUN) | (HRUN<8))"
BED_blacklist: manifests/PON_LoFreq_N24_min2POS_V2_ABRA2_200430.bed
#Gene_blacklist: /net/nfs/PAT/home/matias/data/blacklist/hypervariable_gene_blacklist.bed
Gene_blacklist: /net/nfs/PAT/archive/Yongsoo/Resource/blacklist/hypervariable_gene_blacklist.bed
Mutect2:
gnomad: /net/nfs/PAT/archive/Resource/dbSNP/2.0.2/gnomad.exomes.r2.0.2-AF_chr.vcf.gz
pon: "null"
interval: /net/nfs/PAT/archive/Resource/KAPA_New_Exome/KAPA_HyperExome_hg19_primary_targets.bed
clustered: 50
af_min: 0.05
reads_per_strand: 3
min_reads: 4
variants: /net/nfs/PAT/analysis/MPS-409/WES/tumor-only-snakemake/manifests/variants_for_contamination.vcf.gz
interval: /net/nfs/PAT/archive/Resource/KAPA_New_Exome/KAPA_HyperExome_hg19_primary_targets.bed
Funcotator:
#datasource: /net/nfs/PAT/home/tjitske/files/funcotator_db/funcotator_dataSources.v1.7.20200521s
datasource: /net/nfs/PAT/archive/Resource/Funcotator/funcotator_dataSources.v1.7.20200521s
hg_version: hg19 #alternative is hg38
file_format: VCF #alternative is MAF output file
transcriptlist: manifests/transcriptlist.txt
vcf2maf:
vep_fasta: /net/nfs/PAT/archive/Resource/fasta/hg19.chr.fa
vep_path: /net/beegfs/cfg/tgac/yokim/miniconda3/envs/WES/bin/ #replace with your own dir
vep_data: /net/nfs/PAT/archive/Resource/vep/vep