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Variant Calling for Long Sequencing Reads

Reads evaluation with NanoComp

sh run_nanocomp.sh

Calculate the median depth of essential genes on chromosome 1

sh run_minimap2.sh # for total reads mapping

# get the depth of each gene from bed files
perl step0_1_samtools_get_bed_depth.argv.pl bam_full.list Leupold_chr1_E_gene.bed bamFull.depth  

Downsampling reads

sh count_total_bases.sh
sh seqtk_subreads.sh

Mapping with minimap2

sh run_minimap2.sh

Variant calling with Clair3

sh run_clair3_2_batchly_sample_model_default_options.sh

Merge gvcf files with Glnexus

sh run_glnexus.sh

Variant annotation with SnpEff

# Input file is the merged vcf
sh step01_run_snpeff.sh  
perl step02_Step5_extract_snpEff_from_vcf.pl
perl step03_compute_allele_freq.pl  
perl step04_combine_snpeff_and_genotype.pl 

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