name: "gatk4_cnnscorevariants" description: Apply a Convolutional Neural Net to filter annotated variants keywords: - gatk4_cnnscorevariants - gatk4 - variants tools: - gatk4: description: | Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. homepage: https://gatk.broadinstitute.org/hc/en-us documentation: https://gatk.broadinstitute.org/hc/en-us/categories/360002369672s doi: 10.1158/1538-7445.AM2017-3590 licence: ["Apache-2.0"] input: - meta: type: map description: | Groovy Map containing sample information e.g. [ id:'test', single_end:false ] - vcf: type: file description: VCF file pattern: "*.vcf.gz" - tbi: type: file description: VCF index file pattern: "*.vcf.gz.tbi" - aligned_input: type: file description: BAM/CRAM file from alignment (optional) pattern: "*.{bam,cram}" - intervals: type: file description: Bed file with the genomic regions included in the library (optional) - fasta: type: file description: The reference fasta file pattern: "*.fasta" - fai: type: file description: Index of reference fasta file pattern: "*.fasta.fai" - dict: type: file description: GATK sequence dictionary pattern: "*.dict" - architecture: type: file description: Neural Net architecture configuration json file (optional) pattern: "*.json" - weights: type: file description: Keras model HD5 file with neural net weights. (optional) pattern: "*.hd5" output: - meta: type: map description: | Groovy Map containing sample information e.g. [ id:'test', single_end:false ] - versions: type: file description: File containing software versions pattern: "versions.yml" - vcf: type: file description: Annotated VCF file pattern: "*.vcf" - tbi: type: file description: VCF index file pattern: "*.vcf.gz.tbi" authors: - "@FriederikeHanssen"