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config_example1.yaml
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config_example1.yaml
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# ---------------- Global parameters ----------------
Ensembl_FTP_URL: ftp.ensembl.org/pub/release-111/
annotationFilename: Homo_sapiens.GRCh38.111.chr_patch_hapl_scaff
ensembl_release: 111
contaminants_fasta: "crap.fasta" # Path to the FASTA file with contaminant sequences
custom_transcript_list: "data/transcripts_reference_111.csv"
included_transcript_biotypes: ""
only_MANE_select: True
final_fasta_file: "results/example1_concatenated_database.fa"
fasta_simplify_headers: True
# ---------------- ProHap parameters ----------------
use_ProHap: True
phased_FTP_URL: ""
phased_local_path: "sample_data/"
phased_vcf_file_name: "sample_chr{chr}_1kGP_GRCh38_phased.vcf"
sample_metadata_file: "igsr_samples.tsv"
working_dir_name_haplo: haplotypes_tmp
phased_min_af: 0.01
phased_af_field: AF
haplo_min_freq: 0
haplo_min_count: 0
x_par1_to: 2781479 # End position of the first pseudo-autosomal region (PAR) on the X chromosome
x_par2_from: 155701383 # Start position of the second pseudo-autosomal region on the X chromosome
haplo_require_start: 1
haplo_ignore_UTR: 1
haplo_skip_start_lost: 1
max_cores: 1
haplo_fasta_file: "results/example1_haplotype_translations.fa"
haplo_table_file: "results/example1_haplotypes.tsv"
# ---------------- ProVar parameters ----------------
use_ProVar: False
variant_vcf: {}
working_dir_name_var: variants_tmp
var_require_start: 1
var_fasta_file: ""
var_table_file: ""
add_existing_haplo: False
haplo_added_table: ""
haplo_added_fasta: ""