GATK4.0找SNP

作者: njmujjc | 来源:发表于2018-12-28 19:08 被阅读259次

    ####下载GRCm38 snp和indel vcf文件 ####

    ftp://ftp-mouse.sanger.ac.uk/REL-1303-SNPs_Indels-GRCm38/

    ###hisat比对,samtools sort生成bam文件###

    ./gatk AddOrReplaceReadGroups -I /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158.bam -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-addhead.bam -LB mm10ID -PL illumina -PU mm10PU -SM mm10

    ./gatk MarkDuplicates -I /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-addhead.bam -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-addhead-dedup.bam -M /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-addhead-dedup.Metrics

    ./gatk BaseRecalibrator -R /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/reference/mm10/Mus_musculus.GRCm38.dna.chromosome.1.fa -I /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-addhead-dedup.bam -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158.recal.table --known-sites /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/reference/mm10/snp/mgp.v3.snps.rsIDdbSNPv137.vcf --known-sites /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/reference/mm10/snp/mgp.v3.indels.rsIDdbSNPv137.vcf

    ./gatk ApplyBQSR -R /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/reference/mm10/Mus_musculus.GRCm38.dna.chromosome.1.fa -I /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-addhead-dedup.bam -bqsr /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158.recal.table -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-addhead-dedup-BQSR.bam

    ./gatk HaplotypeCaller -R /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/reference/mm10/Mus_musculus.GRCm38.dna.chromosome.1.fa -I /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-addhead-dedup-BQSR.bam -D /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/reference/mm10/snp/Mus_musculus.vcf -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK.vcf

    ./gatk SelectVariants -select-type SNP -V /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK.vcf -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK-snp.vcf

    ./gatk SelectVariants -select-type INDEL -V /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK.vcf -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK-indel.vcf

    ./gatk VariantFiltration -V /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK-snp.vcf --filter-expression "QD<2.0 || MQ<40.0 || FS >60.0 || SOR >3.0 || MQRankSum < -12.5 || ReadPosRankSum < -8.0" --filter-name "PASS" -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK-snp-filter.vcf

    ./gatk VariantFiltration -V /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK-indel.vcf --filter-expression "QD<2.0 || FS >200.0 || SOR >10.0 || MQRankSum < -12.5 || ReadPosRankSum < -8.0" --filter-name "PASS" -O /media/pc/6a524d78-97d1-481c-b068-8116a4d007f8/jjc/gjy/小鼠/Het-158-rawGATK-indel-filter.vcf

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