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# generate_panels | ||
# Generate Panel | ||
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Here's a script for generating bed files to create templates for capture-targeted high-throughput sequencing. | ||
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## Usage | ||
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``` | ||
Generate a bed panel from a GTF file | ||
options: | ||
-h, --help show this help message and exit | ||
-v, --verbose Enable verbose mode (default: False) | ||
-o OUTPUT, --output OUTPUT | ||
Specify an output file for gene information (default: /Users/Charles/Documents/codes/generate_panels/src) | ||
--gtf GTF Specify the gtf file to use (default: None) | ||
GTF options: | ||
-s SOURCE [SOURCE ...], --source SOURCE [SOURCE ...] | ||
Specify the source(s) to use ("BestRefSeq", "Curated", "Gnomon", "RefSeq", "cmsearch", "tRNAscan-SE") (default: ['BestRefSeq']) | ||
-t TYPE [TYPE ...], --type TYPE [TYPE ...] | ||
Specify the sequence type to analyze ("CDS", "exon", "gene", "start_codon", "stop_codon", "transcript") (default: ['exon']) | ||
Genes options: | ||
-g [GENE ...], --gene [GENE ...] | ||
Specify the gene(s) (default: None) | ||
--genes-list GENES_LIST | ||
Specify the gene(s) (default: None) | ||
Chromosomes options: | ||
--chromosomes CHROMOSOMES | ||
Specify the file with chromosome correspondences (default: None) | ||
--usable-chromosomes USABLE_CHROMOSOMES [USABLE_CHROMOSOMES ...] | ||
Specify the chromosomes you want to use (default: ['1', '2', '3', '4', '5', '6', '7', '8', '9', '10', '11', '12', '13', '14', '15', '16', '17', '18', '19', '20', '21', '22', 'X', 'Y']) | ||
-w, --without-chr Specify the chromosome format (default: True) | ||
Variant (ClinVar/LOVD) options: | ||
-c CLINVAR, --clinvar CLINVAR | ||
Specify the ClinVar vcf file (default: None) | ||
--clinvar-type CLINVAR_TYPE [CLINVAR_TYPE ...] | ||
Specify the sequence type to check on ClinVar ("CDS", "exon", "gene", "start_codon", "stop_codon", "transcript") (default: ['gene']) | ||
--clinvar-clnsig CLINVAR_CLNSIG [CLINVAR_CLNSIG ...] | ||
Specify the significance levels for ClinVar ("Pathogenic", "Likely_pathogenic", "Pathogenic_low_penetrance", "Likely_pathogenic_low_penetrance", "Established_risk_allele", "Likely_risk_allele") (default: | ||
['Pathogenic', 'Likely_pathogenic', 'Pathogenic_low_penetrance', 'Likely_pathogenic_low_penetrance', 'Established_risk_allele', 'Likely_risk_allele']) | ||
--lovd LOVD Specify LOVD file (default: None) | ||
--max-len-variants MAX_LEN_VARIANTS | ||
Specify the max length for clinvar variants (default: 150) | ||
Other options: | ||
-p PADDING, --padding PADDING | ||
Specify the padding to apply (default: 0) | ||
``` | ||
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### GTF file | ||
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> Recommended : | ||
> download the GTF from NCBI (e.g. GRCh38 : https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_000001405.40/) | ||
### Example | ||
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- Generate exome | ||
> `generate-panel --gtf /ncbi_dataset/ncbi_dataset/data/GCF_000001405.40/genomic.gtf ` | ||
- Generate panel of genes with only coding region with a pdding of 50 | ||
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> `generate-panel --gtf /ncbi_dataset/ncbi_dataset/data/GCF_000001405.40/genomic.gtf -g TP53 TNF EGFR VEGFA APOE IL6 TGFB1 MTHFR ESR1 AKT1 -t CDS -p 50` |