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commands.md

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Following commands can be used as a guide. Note, paramater selection depends on your hypothesis.

Aligning ONT reads: Minimap2

minimap2 -ax map-ont -L -t 8 human-ref.mmi swedish_genome.fastq | samtools sort -@8 -o swedish_genome.bam

Aligning PacBio reads: Minimap2

minimap2 -ax map-pb -L -t 8 human-ref.mmi swedish_genome.fastq | samtools sort -@8 -o swedish_genome.bam

Alignment Statistics: QualiMap v2.2.1

qualimap bamqc -bam swedish_genome.bam -nw 400 -hm 3

Subsampling of PacBio data: Sambamba v0.7.1

sambamba view -h -t 10 -s 0.5 -f bam --subsampling-seed=16 file.bam -o subsampled_file.bam 

Structual Variant (SV) Calling: Sniffles 1.0.10

Following will extract variants of >=50bp length

sniffles --report_seq --report_BND -l 50 --genotype --mapped_reads file.bam --vcf output_file.vcf 2> sniffles_run.log