{"id":1759,"date":"2025-06-27T22:51:17","date_gmt":"2025-06-27T14:51:17","guid":{"rendered":"http:\/\/www.majunpeng.com\/?p=1759"},"modified":"2025-06-29T20:34:24","modified_gmt":"2025-06-29T12:34:24","slug":"%e9%87%8d%e6%b5%8b%e5%ba%8f%e6%95%b0%e6%8d%ae-call-snp","status":"publish","type":"post","link":"http:\/\/www.majunpeng.com\/index.php\/2025\/06\/27\/%e9%87%8d%e6%b5%8b%e5%ba%8f%e6%95%b0%e6%8d%ae-call-snp\/","title":{"rendered":"\u91cd\u6d4b\u5e8f\u6570\u636e Call SNP"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"1759\" class=\"elementor elementor-1759\" data-elementor-post-type=\"post\">\n\t\t\t\t<div class=\"elementor-element elementor-element-b54f768 e-flex e-con-boxed e-con e-parent\" data-id=\"b54f768\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-f91740f elementor-widget elementor-widget-heading\" data-id=\"f91740f\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">1. \u524d\u8a00\n<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-b3a7c18 elementor-widget elementor-widget-text-editor\" data-id=\"b3a7c18\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>\u968f\u7740\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4ef7\u683c\u7684\u964d\u4f4e\uff0c\u8fd1\u51e0\u70b9\u53d1\u8868\u4e86\u8d8a\u6765\u8d8a\u591a\u7684\u52a8\u690d\u7269\u57fa\u56e0\u7ec4\uff0c\u56e0\u6b64\u57fa\u4e8e\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f\u8fdb\u884c\u7fa4\u4f53\u9057\u4f20\u5b66\u7684\u7814\u7a76\u4e5f\u9010\u6e10\u706b\u70ed\u3002\u518d\u52a0\u4e0a\u540e\u7eed\u7684\u7814\u7a76\u8ba1\u5212\u4e5f\u4f1a\u6d89\u53ca\u7fa4\u4f53\u9057\u4f20\u5b66\uff0c\u6240\u4ee5\u6765\u63d0\u524d\u5b66\u4e60\u4e00\u4e0b\u5168\u90e8\u7684\u5206\u6790\u6d41\u7a0b\u3002\u4eca\u5929\u5c31\u4eceCall SNP\u5f00\u59cb\u5b66\u4e60\u3002<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-14b25b3 elementor-widget elementor-widget-heading\" data-id=\"14b25b3\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">2. \u8f6f\u4ef6\u4e0b\u8f7d<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c992ee0 elementor-widget elementor-widget-code-highlight\" data-id=\"c992ee0\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"code-highlight.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"prismjs-okaidia copy-to-clipboard \">\n\t\t\t<pre data-line=\"\" class=\"highlight-height language-javascript line-numbers\">\n\t\t\t\t<code readonly=\"true\" class=\"language-javascript\">\n\t\t\t\t\t<xmp>console.log( 'Code is Poetry' );<\/xmp>\n\t\t\t\t<\/code>\n\t\t\t<\/pre>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3e1c2b6 elementor-widget elementor-widget-heading\" data-id=\"3e1c2b6\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">3. \u5f00\u59cb\u5206\u6790<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e1e912a elementor-widget elementor-widget-text-editor\" data-id=\"e1e912a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>\u9996\u5148\u7b2c\u4e00\u6b65\u5c31\u662f\u8981\u51c6\u5907\u5206\u6790\u9700\u8981\u7684\u6570\u636e\uff0c\u4e5f\u5c31\u662f\uff081\uff09\u53c2\u8003\u57fa\u56e0\u7ec4\uff082\uff09\u91cd\u6d4b\u5e8f\u6570\u636e<strong>\uff08\u8981\u662fClean data\uff0craw data\u53bb\u8dd1\u4e00\u4e0bfastp\u5c31\u53ef\u4ee5\uff09<\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-456dd32 elementor-widget elementor-widget-heading\" data-id=\"456dd32\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">3.1 \u4e3a\u53c2\u8003\u57fa\u56e0\u7ec4\u6784\u5efa\u7d22\u5f15<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8fc1e70 elementor-widget elementor-widget-code-highlight\" data-id=\"8fc1e70\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"code-highlight.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"prismjs-okaidia copy-to-clipboard \">\n\t\t\t<pre data-line=\"\" class=\"highlight-height language-bash line-numbers\">\n\t\t\t\t<code readonly=\"true\" class=\"language-bash\">\n\t\t\t\t\t<xmp>samtools faidx genome.fasta\nbwa index  genome.fasta\npicard.jar CreateSequenceDictionary R=genome.fasta<\/xmp>\n\t\t\t\t<\/code>\n\t\t\t<\/pre>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7e53723 elementor-widget elementor-widget-heading\" data-id=\"7e53723\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">3.2 \u5c06reads\u6bd4\u5bf9\u5230\u53c2\u8003\u57fa\u56e0\u7ec4<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-39dae0e elementor-widget elementor-widget-code-highlight\" data-id=\"39dae0e\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"code-highlight.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"prismjs-okaidia copy-to-clipboard \">\n\t\t\t<pre data-line=\"\" class=\"highlight-height language-bash line-numbers\">\n\t\t\t\t<code readonly=\"true\" class=\"language-bash\">\n\t\t\t\t\t<xmp>bwa mem -t 2 -R '@RG\\tID:S1\\tSM:S1\\tPL:illumina'  Genome.fasta  S1_1.fq.gz  S1_2.fq.gz |  samtools sort -@ 2 -o S1.sort.bam -\n\njava -Xmx4g -XX:ParallelGCThreads=2 -jar picard.jar   MarkDuplicates I=S1.sort.bam O=S1.sort.markdup.bam  CREATE_INDEX=true  REMOVE_DUPLICATES=true M=S1.marked_dup_metrics.txt\n\n<\/xmp>\n\t\t\t\t<\/code>\n\t\t\t<\/pre>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-26c80da elementor-widget elementor-widget-heading\" data-id=\"26c80da\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">3.3 GATK \u68c0\u6d4b\u53d8\u5f02<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5a1a1b3 elementor-widget elementor-widget-text-editor\" data-id=\"5a1a1b3\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>GATK\u68c0\u6d4b\u53d8\u5f02\u7684\u65f6\u4e00\u822c\u662f\u9488\u5bf9\u4e8e\u5355\u4e2a\u67d3\u8272\u4f53\u5b8c\u6210\uff0c\u6240\u4ee5\u8981\u5206\u67d3\u8272\u4f53\u8fdb\u884c\u5206\u6790\u3002<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f8bf721 elementor-widget elementor-widget-code-highlight\" data-id=\"f8bf721\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"code-highlight.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"prismjs-okaidia copy-to-clipboard \">\n\t\t\t<pre data-line=\"\" class=\"highlight-height language-bash line-numbers\">\n\t\t\t\t<code readonly=\"true\" class=\"language-bash\">\n\t\t\t\t\t<xmp>gatk --java-options \"-Xmx10g -Djava.io.tmpdir=.\/tmp\" HaplotypeCaller -R genome.fasta  -I S1.sort.markdup.bam -L chr1 -ERC GVCF -O S1.chr1.g.vcf.gz <\/xmp>\n\t\t\t\t<\/code>\n\t\t\t<\/pre>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-13932e5 elementor-widget elementor-widget-text-editor\" data-id=\"13932e5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>\u63a5\u4e0b\u6765\u6709\u4e24\u79cd\u8def\u7ebf\u53ef\u4ee5\u9009\uff0c\uff081\uff09\u5408\u5e76\u62101\u4e2agvcf\u6587\u4ef6\u7136\u540e\u8fdb\u884c\u53d8\u5f02\u68c0\u6d4b\uff082\uff09\u5206\u6837\u672c\u8fdb\u884c\u53d8\u5f02\u68c0\u6d4b\uff0c\u672c\u7814\u7a76\u4e2d\u53ea\u5bf9\u591a\u6837\u672c\u8fdb\u884c\u7814\u7a76\uff0c\u5e76\u4e14\u6837\u672c\u6570\u91cf\u4e0d\u8d85\u8fc71000\uff0c\u6240\u4ee5\u9009\u62e9\uff081\uff09\uff0c\u4f46\u662f\uff082\uff09\u4e5f\u4f1a\u5199\u4e0b\u6559\u7a0b\uff0c\u4f46\u662f\u4e0d\u4f1a\u9a8c\u8bc1\u811a\u672c\u662f\u5426\u6709\u9519\u8bef<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-0e3ed76 elementor-widget elementor-widget-heading\" data-id=\"0e3ed76\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">3.3.1 \uff081\uff09<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-60202f1 elementor-widget elementor-widget-code-highlight\" data-id=\"60202f1\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"code-highlight.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"prismjs-okaidia copy-to-clipboard \">\n\t\t\t<pre data-line=\"\" class=\"highlight-height language-bash line-numbers\">\n\t\t\t\t<code readonly=\"true\" class=\"language-bash\">\n\t\t\t\t\t<xmp>gatk  --java-options \"-Xmx10g -Djava.io.tmpdir=.\/tmp\" CombineGVCFs -R genome.fasta -V gvcf.chr1.list  -O chr1.g.vcf.gz\n\n# -R \u53c2\u8003\u57fa\u56e0\u7ec4\n# -V \u6837\u54c1list\n# -O \u8f93\u51fa\u7ed3\u679c\n\ncat gvcf.chr1.list\n\nS1\/S1.chr1.g.vcf.gz\nS2\/S2.chr1.g.vcf.gz<\/xmp>\n\t\t\t\t<\/code>\n\t\t\t<\/pre>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8ac2955 elementor-widget elementor-widget-text-editor\" data-id=\"8ac2955\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>\u68c0\u6d4b\u53d8\u5f02<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-8ecd2a6 elementor-widget elementor-widget-code-highlight\" data-id=\"8ecd2a6\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"code-highlight.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"prismjs-okaidia copy-to-clipboard \">\n\t\t\t<pre data-line=\"\" class=\"highlight-height language-bash line-numbers\">\n\t\t\t\t<code readonly=\"true\" class=\"language-bash\">\n\t\t\t\t\t<xmp>gatk  --java-options \"-Xmx10g -Djava.io.tmpdir=.\/tmp\" GenotypeGVCFs -R genome.fasta  -V chr1.g.vcf.gz  -O chr1.raw.vcf.gz\n\n# -R \u53c2\u8003\u57fa\u56e0\u7ec4\n# -V \u8f93\u5165vcf\u6587\u4ef6\n#-O \u8f93\u51fa\u7ed3\u679c\u6587\u4ef6<\/xmp>\n\t\t\t\t<\/code>\n\t\t\t<\/pre>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e7480f8 elementor-widget elementor-widget-text-editor\" data-id=\"e7480f8\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>\u5408\u5e76\u4e0d\u540c\u67d3\u8272\u4f53\u7684VCF\u6587\u4ef6\uff0c\u5f62\u6210\u5168\u57fa\u56e0\u7ec4\u7684VCF\u6587\u4ef6<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-cecd48f elementor-widget elementor-widget-code-highlight\" data-id=\"cecd48f\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"code-highlight.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"prismjs-okaidia copy-to-clipboard \">\n\t\t\t<pre data-line=\"\" class=\"highlight-height language-bash line-numbers\">\n\t\t\t\t<code readonly=\"true\" class=\"language-bash\">\n\t\t\t\t\t<xmp>gatk  --java-options \"-Xmx10g -Djava.io.tmpdir=.\/tmp\"  MergeVcfs -I  raw_vcf.list -O all.merge_raw.vcf.gz\n\ncat raw_vcf.list\n\nchr1.raw.vcf.gz\nchr2.raw.vcf.gz<\/xmp>\n\t\t\t\t<\/code>\n\t\t\t<\/pre>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-9054add elementor-widget elementor-widget-heading\" data-id=\"9054add\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">4.  \u63d0\u53d6SNP\u548cINDEL\u5e76\u4e14\u8fdb\u884c\u8fc7\u6ee4<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-9574ddf elementor-widget elementor-widget-heading\" data-id=\"9574ddf\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">4.1 SNP<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ceb7ca9 elementor-widget elementor-widget-code-highlight\" data-id=\"ceb7ca9\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"code-highlight.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"prismjs-okaidia copy-to-clipboard \">\n\t\t\t<pre data-line=\"\" class=\"highlight-height language-bash line-numbers\">\n\t\t\t\t<code readonly=\"true\" class=\"language-bash\">\n\t\t\t\t\t<xmp>gatk  --java-options \"-Xmx4g -Djava.io.tmpdir=.\/tmp\"  SelectVariants  -R genome.fasta -V all.merge_raw.vcf --select-type SNP -O all.raw.snp.vcf\n\ngatk  --java-options \"-Xmx4g -Djava.io.tmpdir=.\/tmp\"  VariantFiltration -R genome.fasta -V all.raw.snp.vcf --filter-expression \"QD < 2.0 || MQ < 40.0 || FS > 60.0 || SOR > 3.0 || MQRankSum < -12.5 || ReadPosRankSum < -8.0\" --filter-name 'SNP_filter' -O all.filter.snp.vcf\n\ngatk  --java-options \"-Xmx4g -Djava.io.tmpdir=.\/tmp\"  SelectVariants  -R genome.fasta -V all.filter.snp.vcf --exclude-filtered  -O all.filtered.snp.vcf<\/xmp>\n\t\t\t\t<\/code>\n\t\t\t<\/pre>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ecb53ad elementor-widget elementor-widget-heading\" data-id=\"ecb53ad\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">4.2 INDEL<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>1. \u524d\u8a00 \u968f\u7740\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4ef7\u683c\u7684\u964d\u4f4e\uff0c\u8fd1\u51e0\u70b9\u53d1\u8868\u4e86\u8d8a\u6765\u8d8a\u591a\u7684\u52a8\u690d\u7269\u57fa\u56e0\u7ec4\uff0c\u56e0\u6b64\u57fa\u4e8e\u57fa\u56e0\u7ec4\u91cd\u6d4b\u5e8f\u8fdb\u884c\u7fa4\u4f53\u9057\u4f20\u5b66\u7684 &#8230; <a title=\"\u91cd\u6d4b\u5e8f\u6570\u636e Call SNP\" class=\"read-more\" href=\"http:\/\/www.majunpeng.com\/index.php\/2025\/06\/27\/%e9%87%8d%e6%b5%8b%e5%ba%8f%e6%95%b0%e6%8d%ae-call-snp\/\" aria-label=\"\u9605\u8bfb \u91cd\u6d4b\u5e8f\u6570\u636e Call 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