#samtools tview /opt/gotcloudExample/bams/HG00254.bam /opt/gotcloudExample/chr20Ref/human_g1k_v37_chr20.fa #Type ā€œgā€, then: ā€œ20:42900000ā€ # "q" to quit # Look at fastq index file more /opt/gotcloudExample/GBR2fastq.index # Look at an input fastq file # Sequencing data provided to you less /opt/gotcloudExample/fastq/HG00096_SRR062634_1.fastq less /opt/gotcloudExample/fastq/HG00096_SRR062634_2.fastq less /opt/gotcloudExample/fastq/HG00096_SRR062634.fastq #-------------------------- # Run alignment pipeline gotcloud align --conf /opt/gotcloudExample/GBR2align.conf --outdir ~/gotcloudTutorial #-------------------------- # List resulting Output files ls ~/gotcloudTutorial/bams/*bam ls ~/gotcloudTutorial/QCFiles/*qplot* ls ~/gotcloudTutorial/QCFiles/*genoCheck* # Look at one of the bams using tview samtools tview ~/gotcloudTutorial/bams/HG00096.recal.bam /opt/gotcloudExample/chr20Ref/human_g1k_v37_chr20.fa # Type "g", then: "20:42900000" # "q" to quit # Look at contamination Results more ~/gotcloudTutorial/QCFiles/*.selfSM # Look at statistics more ~/gotcloudTutorial/QCFiles/*.stats # Look at pdf okular ~/gotcloudTutorial/QCFiles/HG00096.qplot.pdf ### Variant Calling # Look at BAM index more /opt/gotcloudExample/GBR60bam.index # Look at configuration more /opt/gotcloudExample/GBR60vc.conf #-------------------------- # Run snp calling pipeline gotcloud snpcall --conf /opt/gotcloudExample/GBR60vc.conf --outdir ~/gotcloudTutorial --numjobs 2 --region 20:42900000-43200000 #-------------------------- ls ~/gotcloudTutorial/split/chr20/chr20.filtered* ls ~/gotcloudTutorial/vcfs/chr20/chr20.filtered* #-------------------------- # Run ld refinement pipeline gotcloud ldrefine --conf /opt/gotcloudExample/GBR60vc.conf --outdir ~/gotcloudTutorial --numjobs 2 #-------------------------- ls ~/gotcloudTutorial/thunder/chr20/GBR/thunder/chr20.filtered.PASS.beagled.GBR.thunder.vcf.gz