# Configuration comparing alignment methods, preparation approaches # and variant callers for a CEPH NA12878 whole genome trio, using Illumina platinum # genome inputs and Genome in a Bottle reference calls. # # See the bcbio-nextgen documentation for full instructions to # run this analysis: # https://bcbio-nextgen.readthedocs.org/en/latest/contents/testing.html#example-pipelines --- upload: dir: ../final details: - files: [../input/NA12878_1.fastq.gz, ../input/NA12878_2.fastq.gz] description: NA12878 metadata: batch: ceph sex: female analysis: variant2 genome_build: hg38 algorithm: aligner: bwa exclude_regions: [lcr] mark_duplicates: true recalibrate: false realign: false variantcaller: gatk-haplotype validate: giab-NA12878/truth_small_variants.vcf.gz validate_regions: giab-NA12878/truth_regions.bed - files: [../input/NA12891_1.fastq.gz, ../input/NA12891_2.fastq.gz] description: NA12891 metadata: batch: ceph sex: male analysis: variant2 genome_build: hg38 algorithm: aligner: bwa mark_duplicates: true recalibrate: false realign: false variantcaller: gatk-haplotype - files: [../input/NA12892_1.fastq.gz, ../input/NA12892_2.fastq.gz] description: NA12892 metadata: batch: ceph sex: female analysis: variant2 genome_build: hg38 algorithm: aligner: bwa mark_duplicates: true recalibrate: false realign: false variantcaller: gatk-haplotype