{"id":7246,"date":"2020-03-23T12:40:48","date_gmt":"2020-03-23T12:40:48","guid":{"rendered":"https:\/\/www.kolabtree.com\/blog\/?p=7246"},"modified":"2023-04-18T11:12:54","modified_gmt":"2023-04-18T11:12:54","slug":"a-step-by-step-guide-to-dna-sequencing-data-analysis","status":"publish","type":"post","link":"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/","title":{"rendered":"A Step-By-Step Guide to DNA Sequencing Data Analysis"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_45_1 counter-flat ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\">table of contents<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" area-label=\"ez-toc-toggle-icon-1\"><label for=\"item-69f24712e1338\" aria-label=\"Table of Content\"><span style=\"display: flex;align-items: center;width: 35px;height: 30px;justify-content: center;direction:ltr;\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewbox=\"0 0 24 24\" version=\"1.2\" baseprofile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/label><input  type=\"checkbox\" id=\"item-69f24712e1338\"><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1' ><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/#Introduction\" title=\"\u306f\u3058\u3081\u306b\">\u306f\u3058\u3081\u306b<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/#Quality_control_QC_of_raw_reads\" title=\"\u30ed\u30fc\u30ea\u30fc\u30c9\u306e\u54c1\u8cea\u7ba1\u7406\uff08QC\">\u30ed\u30fc\u30ea\u30fc\u30c9\u306e\u54c1\u8cea\u7ba1\u7406\uff08QC<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/#Read_trimming\" title=\"\u30c8\u30ea\u30df\u30f3\u30b0\u3092\u8aad\u3080\">\u30c8\u30ea\u30df\u30f3\u30b0\u3092\u8aad\u3080<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/#Alignment\" title=\"\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\">\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/#From_the_alignments\" title=\"\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u304b\u3089\">\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u304b\u3089<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/#Before_you_start%E2%80%A6\" title=\"\u59cb\u3081\u308b\u524d\u306b...\">\u59cb\u3081\u308b\u524d\u306b...<\/a><\/li><\/ul><\/nav><\/div>\n<p><em><span style=\"font-weight: 300;\">\u30cf\u30d3\u30a8\u30eb\u30fb\u30ad\u30ec\u30b9\u30fb\u30aa\u30ea\u30a8\u30c6\u535a\u58eb\u306f\u3001\u7d4c\u9a13\u8c4a\u5bcc\u306a <a href=\"https:\/\/www.kolabtree.com\/find-an-expert\/subject\/bioinformatics\" target=\"_blank\" rel=\"noopener\">freelance bioinformatics consultant<\/a> \u306eKolabtree\u3067\u306f\u3001\u30c7\u30fc\u30bf\u3092\u8aad\u3080\u305f\u3081\u306e\u30c4\u30fc\u30eb\u3084\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u306a\u3069\u3001DNA\u30b7\u30fc\u30b1\u30f3\u30b9\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u00a0<\/span><\/em><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Introduction\"><\/span><b>\u306f\u3058\u3081\u306b<\/b><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 300;\">\u907a\u4f1d\u60c5\u5831\u306e\u307b\u3068\u3093\u3069\u3092\u62c5\u3046\u5206\u5b50\u3001\u30c7\u30aa\u30ad\u30b7\u30ea\u30dc\u6838\u9178\uff08DNA\uff09\u3002 <\/span><span style=\"font-weight: 300;\">\u751f\u7269\u306e<\/span><span style=\"font-weight: 300;\">.(\u30a6\u30a4\u30eb\u30b9\u306e\u4e2d\u306b\u306f\u3001\u30ea\u30dc\u6838\u9178\uff08RNA\uff09\u306b\u3088\u3063\u3066\u907a\u4f1d\u60c5\u5831\u304c\u4f1d\u9054\u3055\u308c\u308b\u3082\u306e\u3082\u3042\u308b\uff09\u3002  DNA\u5206\u5b50\u306e\u57fa\u672c\u5358\u4f4d\u306f\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\uff08A\u3001C\u3001G\u3001T\u306e4\u6587\u5b57\uff09\u3067\u3042\u308b\u3002\u6982\u5ff5\u7684\u306b\u306f <a href=\"https:\/\/www.kolabtree.com\/find-an-expert\/subject\/dna-sequencing?utm_source=Blog&amp;utm_medium=Post&amp;utm_campaign=DNASeqGuide\">DNA\u30b7\u30fc\u30af\u30a8\u30f3\u30b9<\/a> \u306f\u3001DNA\u5206\u5b50\u3092\u69cb\u6210\u3059\u308b\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u3092\u8aad\u307f\u53d6\u308b\u30d7\u30ed\u30bb\u30b9\u3067\u3042\u308b\uff08\u4f8b\uff1a\u300cGCAAACCAAT\u300d\u306f10\u5869\u57fa\u306eDNA\u6587\u5b57\u5217\uff09\u3002\u73fe\u5728\u306e\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u3067\u306f\u3001\u3053\u306e\u3088\u3046\u306aDNA\u30ea\u30fc\u30c9\u304c\u6570\u767e\u4e07\u500b\u751f\u6210\u3055\u308c\u308b <\/span><span style=\"font-weight: 300;\">\u3092\u3001\u6bd4\u8f03\u7684\u4f4e\u30b3\u30b9\u30c8\u3067\u5408\u7406\u7684\u306b\u884c\u3046\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u53c2\u8003\u307e\u3067\u306b\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\uff08\u30b2\u30ce\u30e0\u3068\u306f\u3001\u751f\u7269\u306eDNA\u5206\u5b50\u306e\u5b8c\u5168\u306a\u30bb\u30c3\u30c8\u306e\u3053\u3068\uff09\u306e\u914d\u5217\u6c7a\u5b9a\u306b\u304b\u304b\u308b\u8cbb\u7528\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306b\u4e0b\u304c\u308a\u307e\u3057\u305f\u3002 <\/span><a href=\"https:\/\/www.technologyreview.com\/s\/615289\/china-bgi-100-dollar-genome\/\"><span style=\"font-weight: 300;\">$100\u30d0\u30ea\u30a2<\/span><\/a><span style=\"font-weight: 300;\"> \u3068\u3001\u6570\u65e5\u3067\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u3092\u914d\u5217\u3059\u308b\u6700\u521d\u306e\u53d6\u308a\u7d44\u307f\u3068\u306f\u5bfe\u7167\u7684\u3067\u3059\u3002 <\/span><a href=\"https:\/\/www.nature.com\/articles\/35057062\"><span style=\"font-weight: 300;\">\u30d2\u30c8\u30b2\u30ce\u30e0<\/span><\/a><span style=\"font-weight: 300;\">10\u5e74\u3067\u5b8c\u6210\u3057\u305f\u3053\u306e\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306b\u306f\u3001\u7d041\u51462\u5343\u5104\u5186\u306e\u8cbb\u7528\u304c\u304b\u304b\u308a\u307e\u3057\u305f\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u30cf\u30a4\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8\u304b\u3064\u4f4e\u30b3\u30b9\u30c8\u3067DNA\u3092\u914d\u5217\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u3067\u3001\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3092\u5229\u7528\u3057\u305f\u624b\u6cd5\u3084\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u6b21\u3005\u3068\u958b\u767a\u3055\u308c\u3066\u3044\u308b\u3002\u4f8b\u3048\u3070\u3001\u75c5\u6c17\u306e\u4eba\u3084\u5065\u5eb7\u306a\u4eba\u306e\u30b2\u30ce\u30e0\u5168\u4f53\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b\u9818\u57df\u306e\u5869\u57fa\u914d\u5217\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308bDNA\u306e\u5909\u5316\u3092\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\uff08\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\uff09\u3002\u307e\u305f\u3001DNA\u304b\u3089\u8ee2\u5199\u3055\u308c\u305fRNA\u306e\u5869\u57fa\u914d\u5217\u3092\u89e3\u6790\u3059\u308b\u3053\u3068\u3067\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u5b9a\u91cf\u5316\u3057\u3001\u672a\u6cbb\u7642\u6642\u3068\u6cbb\u7642\u6642\u3067\u3069\u306e\u3088\u3046\u306b\u5909\u5316\u3059\u308b\u304b\u3092\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\uff08RNA\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\uff09\u3002\u4e00\u65b9\u3001\u67d3\u8272\u4f53\u7acb\u4f53\u69cb\u9020\u89e3\u6790\u3067\u306f\u3001\u8fd1\u508d\u306eDNA\u5206\u5b50\u9593\u306e\u76f8\u4e92\u4f5c\u7528\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u5185\u306e\u67d3\u8272\u4f53\u306e\u7a7a\u9593\u5206\u5e03\u3092\u628a\u63e1\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u3053\u308c\u3089\u306e\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u3084\u305d\u306e\u4ed6\u306eDNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u5171\u901a\u3057\u3066\u3044\u308b\u306e\u306f\u3001\u6570\u767e\u4e07\u306e\u30ea\u30fc\u30c9\u914d\u5217\u304b\u3089\u306a\u308b\u30ae\u30ac\u30d0\u30a4\u30c8\u30aa\u30fc\u30c0\u30fc\u306e\u30c7\u30fc\u30bf\u30bb\u30c3\u30c8\u3092\u751f\u6210\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u30cf\u30a4\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08HTS\uff09\u5b9f\u9a13\u306e\u610f\u5473\u3092\u7406\u89e3\u3059\u308b\u306b\u306f\u3001\u5145\u5b9f\u3057\u305f\u30c7\u30fc\u30bf\u89e3\u6790\u6a5f\u80fd\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002\u5e78\u3044\u306a\u3053\u3068\u306b\u3001\u307b\u3068\u3093\u3069\u306eHTS\u30c7\u30fc\u30bf\u30bf\u30a4\u30d7\u306b\u5bfe\u3057\u3066\u3001\u5c02\u7528\u306e\u8a08\u7b97\u30fb\u7d71\u8a08\u30c4\u30fc\u30eb\u3068\u6bd4\u8f03\u7684\u6a19\u6e96\u7684\u306a\u89e3\u6790\u30ef\u30fc\u30af\u30d5\u30ed\u30fc\u304c\u5b58\u5728\u3059\u308b\u3002\u521d\u671f\u306e\u89e3\u6790\u30b9\u30c6\u30c3\u30d7\u306e\u3044\u304f\u3064\u304b\u306f\u3001\u307b\u3068\u3093\u3069\u306e\u30b7\u30fc\u30b1\u30f3\u30b9\u30c7\u30fc\u30bf\u30bf\u30a4\u30d7\u306b\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3088\u308a\u4e0b\u6d41\u306e\u89e3\u6790\u306f\u3001\u30c7\u30fc\u30bf\u306e\u7a2e\u985e\u3084\u89e3\u6790\u306e\u6700\u7d42\u76ee\u7684\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u4ee5\u4e0b\u3067\u306f\u3001HTS\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u306b\u304a\u3051\u308b\u57fa\u672c\u7684\u306a\u30b9\u30c6\u30c3\u30d7\u306b\u3064\u3044\u3066\u8aac\u660e\u3057\u3001\u4e00\u822c\u7684\u306a\u30c4\u30fc\u30eb\u3092\u7d39\u4ecb\u3057\u307e\u3059\u3002\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u4ee5\u4e0b\u306e\u3044\u304f\u3064\u304b\u306e\u30bb\u30af\u30b7\u30e7\u30f3\u3067\u306f\u3001\u30b7\u30e7\u30fc\u30c8\u30ea\u30fc\u30c9\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u304b\u3089\u751f\u6210\u3055\u308c\u305f\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u3044\u307e\u3059\uff08\u4e3b\u306b <\/span><a href=\"https:\/\/www.illumina.com\/\"><span style=\"font-weight: 300;\">\u30a4\u30eb\u30df\u30ca<\/span><\/a><span style=\"font-weight: 300;\">\u306a\u3069\uff09\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u304c\u6b74\u53f2\u7684\u306bHTS\u5e02\u5834\u3092\u652f\u914d\u3057\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u3088\u308a\u9577\u3044\u30ea\u30fc\u30c9\u3092\u751f\u6210\u3059\u308b\u65b0\u3057\u3044\u6280\u8853\uff08\u4f8b\u3048\u3070 <\/span><a href=\"https:\/\/nanoporetech.com\/\"><span style=\"font-weight: 300;\">\u30aa\u30c3\u30af\u30b9\u30d5\u30a9\u30fc\u30c9\u30fb\u30ca\u30ce\u30dd\u30a2\u30fb\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u30ba<\/span><\/a><span style=\"font-weight: 300;\">, <\/span><a href=\"https:\/\/www.pacb.com\/\"><span style=\"font-weight: 300;\">PacBio<\/span><\/a><span style=\"font-weight: 300;\">)\u304c\u6025\u901f\u306b\u666e\u53ca\u3057\u3066\u3044\u307e\u3059\u3002\u9577\u6642\u9593\u306e\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u306b\u306f\u30a8\u30e9\u30fc\u7387\u304c\u9ad8\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u3042\u308b\u305f\u3081\u3001\u3053\u306e\u7a2e\u306e\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3059\u308b\u305f\u3081\u306e\u7279\u5225\u306a\u30c4\u30fc\u30eb\u304c\u958b\u767a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u00a0<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Quality_control_QC_of_raw_reads\"><\/span><b>\u30ed\u30fc\u30ea\u30fc\u30c9\u306e\u54c1\u8cea\u7ba1\u7406\uff08QC<\/b><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 300;\">\u71b1\u5fc3\u306a\u5206\u6790\u8005\u306fFASTQ\u30d5\u30a1\u30a4\u30eb\u304b\u3089\u5206\u6790\u3092\u958b\u59cb\u3057\u307e\u3059\u3002 <\/span><a href=\"https:\/\/en.wikipedia.org\/wiki\/FASTQ_format\"><span style=\"font-weight: 300;\">FASTQ\u30d5\u30a9\u30fc\u30de\u30c3\u30c8<\/span><\/a><span style=\"font-weight: 300;\"> \u306f\u3001\u9577\u3044\u9593\u3001\u30b7\u30e7\u30fc\u30c8\u30ea\u30fc\u30c9\u306e\u30b7\u30fc\u30b1\u30f3\u30b9\u30c7\u30fc\u30bf\u3092\u4fdd\u5b58\u3059\u308b\u305f\u3081\u306e\u6a19\u6e96\u3068\u306a\u3063\u3066\u3044\u307e\u3057\u305f\u3002\u8981\u3059\u308b\u306b\u3001FASTQ\u30d5\u30a1\u30a4\u30eb\u306f\u3001\u5869\u57fa\u914d\u5217\u3068\u5869\u57fa\u3054\u3068\u306e<\/span><span style=\"font-weight: 300;\"> \u4f55\u767e\u4e07\u3082\u306e\u30ea\u30fc\u30c9\u306e\u547c\u3073\u51fa\u3057\u54c1\u8cea\u3092\u5411\u4e0a\u3055\u305b\u307e\u3059\u3002\u30d5\u30a1\u30a4\u30eb\u30b5\u30a4\u30ba\u306f\u5b9f\u969b\u306e\u30ea\u30fc\u30c9\u6570\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001FASTQ\u30d5\u30a1\u30a4\u30eb\u306f\u4e00\u822c\u7684\u306b\u5927\u304d\u304f\uff08\u30e1\u30ac\u30d0\u30a4\u30c8\u3084\u30ae\u30ac\u30d0\u30a4\u30c8\u306e\u30aa\u30fc\u30c0\u30fc\uff09\u3001\u5727\u7e2e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u306a\u304a\u3001FASTQ\u30d5\u30a1\u30a4\u30eb\u3092\u5165\u529b\u3068\u3057\u3066\u4f7f\u7528\u3059\u308b\u307b\u3068\u3093\u3069\u306e\u30c4\u30fc\u30eb\u306f\u3001\u5727\u7e2e\u3055\u308c\u305f\u30d5\u30a9\u30fc\u30de\u30c3\u30c8\u3067\u6271\u3046\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u306e\u3067\u3001\u30c7\u30a3\u30b9\u30af\u30b9\u30da\u30fc\u30b9\u3092\u7bc0\u7d04\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u89e3\u51cd\u3057\u306a\u3044\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002\u6163\u4f8b\u3068\u3057\u3066\u3001\u3053\u3053\u3067\u306fFASTQ\u30d5\u30a1\u30a4\u30eb\u3092\u30b7\u30fc\u30b1\u30f3\u30b9\u30b5\u30f3\u30d7\u30eb\u3068\u540c\u4e00\u8996\u3057\u307e\u3059\u3002<\/span><\/p>\n<p><a href=\"https:\/\/www.bioinformatics.babraham.ac.uk\/projects\/fastqc\/\"><span style=\"font-weight: 300;\">FastQC<\/span><\/a><span style=\"font-weight: 300;\"> \u306f\u3001\u751f\u306e\u30ea\u30fc\u30c9\u306eQC\u3092\u5b9f\u884c\u3059\u308b\u305f\u3081\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u30c4\u30fc\u30eb\u3068\u601d\u308f\u308c\u307e\u3059\u3002\u3053\u306e\u30c4\u30fc\u30eb\u306f\u3001\u8996\u899a\u7684\u306a\u30a4\u30f3\u30bf\u30fc\u30d5\u30a7\u30fc\u30b9\u307e\u305f\u306f\u30d7\u30ed\u30b0\u30e9\u30e0\u3067\u5b9f\u884c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30b3\u30de\u30f3\u30c9\u30e9\u30a4\u30f3\u74b0\u5883\u306b\u6163\u308c\u3066\u3044\u306a\u3044\u30e6\u30fc\u30b6\u30fc\u306b\u3068\u3063\u3066\u306f\u524d\u8005\u306e\u65b9\u304c\u4fbf\u5229\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5f8c\u8005\u306f\u6bd4\u985e\u306e\u306a\u3044\u30b9\u30b1\u30fc\u30e9\u30d3\u30ea\u30c6\u30a3\u3068\u518d\u73fe\u6027\u3092\u63d0\u4f9b\u3057\u307e\u3059\uff08\u6570\u5341\u500b\u306e\u30d5\u30a1\u30a4\u30eb\u306b\u5bfe\u3057\u3066\u30c4\u30fc\u30eb\u3092\u624b\u52d5\u3067\u5b9f\u884c\u3059\u308b\u3053\u3068\u304c\u3069\u308c\u307b\u3069\u9762\u5012\u3067\u30a8\u30e9\u30fc\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u304b\u3092\u8003\u3048\u3066\u307f\u3066\u304f\u3060\u3055\u3044\uff09\u3002\u3044\u305a\u308c\u306b\u3057\u3066\u3082\u3001FastQC\u306e\u4e3b\u306a\u51fa\u529b\u306f <\/span><a href=\"https:\/\/www.bioinformatics.babraham.ac.uk\/projects\/fastqc\/good_sequence_short_fastqc.html\"><span style=\"font-weight: 300;\">HTML\u30d5\u30a1\u30a4\u30eb<\/span><\/a><span style=\"font-weight: 300;\"> \u306f\u3001\u7279\u5b9a\u306e\u30b5\u30f3\u30d7\u30eb\u304b\u3089\u5f97\u3089\u308c\u305f\u751f\u306e\u30b7\u30fc\u30b1\u30f3\u30b9\u30ea\u30fc\u30c9\u306e\u5168\u4f53\u7684\u306a\u54c1\u8cea\u306b\u95a2\u3059\u308b\u91cd\u8981\u306a\u8981\u7d04\u7d71\u8a08\u3092\u5831\u544a\u3057\u307e\u3059\u3002\u4f55\u5341\u3082\u306eFastQC\u30ec\u30dd\u30fc\u30c8\u30921\u30641\u3064\u691c\u67fb\u3059\u308b\u306e\u306f\u9762\u5012\u3067\u3059\u3057\u3001\u30b5\u30f3\u30d7\u30eb\u9593\u306e\u6bd4\u8f03\u3082\u8907\u96d1\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u3053\u3067 <\/span><a href=\"https:\/\/multiqc.info\/\"><span style=\"font-weight: 300;\">MultiQC<\/span><\/a><span style=\"font-weight: 300;\">FastQC\u304b\u3089\u306eHTML\u30ec\u30dd\u30fc\u30c8\uff08\u30a2\u30c0\u30d7\u30bf\u30fc\u30c8\u30ea\u30df\u30f3\u30b0\u3084\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u306a\u3069\u3001\u30c0\u30a6\u30f3\u30b9\u30c8\u30ea\u30fc\u30e0\u3067\u4f7f\u7528\u3055\u308c\u308b\u4ed6\u306e\u30c4\u30fc\u30eb\u304b\u3089\u306e\u30ec\u30dd\u30fc\u30c8\u3082\u542b\u3080\uff09\u30921\u3064\u306e\u30ec\u30dd\u30fc\u30c8\u306b\u307e\u3068\u3081\u307e\u3059\u3002<\/span><span style=\"font-weight: 300;\">.<\/span><\/p>\n<div id=\"attachment_7265\" style=\"width: 712px\" class=\"wp-caption alignnone\"><img aria-describedby=\"caption-attachment-7265\" decoding=\"async\" loading=\"lazy\" class=\"wp-image-7265 size-large\" src=\"https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/MultiQC-1024x576.png\" alt=\"\" width=\"702\" height=\"395\" srcset=\"https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/MultiQC-1024x576.png 1024w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/MultiQC-300x169.png 300w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/MultiQC-768x432.png 768w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/MultiQC-1536x864.png 1536w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/MultiQC-1080x608.png 1080w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/MultiQC.png 1600w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/MultiQC-300x169@2x.png 600w\" sizes=\"(max-width: 702px) 100vw, 702px\" \/><p id=\"caption-attachment-7265\" class=\"wp-caption-text\">MultiQC<\/p><\/div>\n<p><span style=\"font-weight: 300;\">QC\u60c5\u5831\u306f\u3001\u30e6\u30fc\u30b6\u30fc\u304c\u30b5\u30f3\u30d7\u30eb\u306e\u54c1\u8cea\u304c\u826f\u304f\u3001\u5f8c\u7d9a\u306e\u30b9\u30c6\u30c3\u30d7\u306b\u4f7f\u7528\u3067\u304d\u308b\u304b\u3001\u5ec3\u68c4\u3059\u308b\u5fc5\u8981\u304c\u3042\u308b\u304b\u3092\u5224\u65ad\u3067\u304d\u308b\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u6b8b\u5ff5\u306a\u304c\u3089\u3001FastQC\u30e1\u30c8\u30ea\u30af\u30b9\u306b\u57fa\u3065\u3044\u3066\u30b5\u30f3\u30d7\u30eb\u3092\u54c1\u8cea\u306e\u826f\u3044\u3082\u306e\u3001\u60aa\u3044\u3082\u306e\u306b\u5206\u985e\u3059\u308b\u305f\u3081\u306e\u30b3\u30f3\u30bb\u30f3\u30b5\u30b9\u3068\u306a\u308b\u95be\u5024\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u79c1\u304c\u4f7f\u7528\u3057\u3066\u3044\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002\u540c\u3058\u624b\u9806\uff08DNA\u62bd\u51fa\u3001\u30e9\u30a4\u30d6\u30e9\u30ea\u4f5c\u6210\u306a\u3069\uff09\u3092\u7d4c\u305f\u3059\u3079\u3066\u306e\u30b5\u30f3\u30d7\u30eb\u306f\u3001\u54c1\u8cea\u306e\u7d71\u8a08\u5024\u304c\u985e\u4f3c\u3057\u3066\u304a\u308a\u3001\u5927\u591a\u6570\u306e\u300c\u5408\u683c\u300d\u30d5\u30e9\u30b0\u304c\u7acb\u3063\u3066\u3044\u308b\u3068\u4e88\u60f3\u3057\u307e\u3059\u3002\u4e00\u90e8\u306e\u30b5\u30f3\u30d7\u30eb\u306e\u54c1\u8cea\u304c\u5e73\u5747\u3088\u308a\u3082\u4f4e\u3044\u5834\u5408\u3067\u3082\u3001\u3053\u306e\u3053\u3068\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u3066\u4e0b\u6d41\u306e\u5206\u6790\u306b\u4f7f\u7528\u3057\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u5b9f\u9a13\u4e2d\u306e\u3059\u3079\u3066\u306e\u30b5\u30f3\u30d7\u30eb\u304c\u8907\u6570\u306e\u30e1\u30c8\u30ea\u30af\u30b9\u3067\u300c\u8b66\u544a\u300d\u307e\u305f\u306f\u300c\u5931\u6557\u300d\u30d5\u30e9\u30b0\u3092\u7cfb\u7d71\u7684\u306b\u53d6\u5f97\u3057\u305f\u5834\u5408\uff08\u4e0b\u8a18\u53c2\u7167 <\/span><a href=\"https:\/\/www.bioinformatics.babraham.ac.uk\/projects\/fastqc\/bad_sequence_fastqc.html\"><span style=\"font-weight: 300;\">\u3053\u306e\u4f8b<\/span><\/a><span style=\"font-weight: 300;\">)\u306e\u5834\u5408\u3001\u5b9f\u9a13\u3067\u4f55\u304b\u554f\u984c\u304c\u767a\u751f\u3057\u305f\u3068\u8003\u3048\u3089\u308c\u308b\u306e\u3067\uff08\u4f8b\uff1aDNA\u306e\u8cea\u304c\u60aa\u3044\u3001\u30e9\u30a4\u30d6\u30e9\u30ea\u306e\u6e96\u5099\u304c\u3067\u304d\u3066\u3044\u306a\u3044\u306a\u3069\uff09\u3001\u518d\u5ea6\u5b9f\u9a13\u3092\u884c\u3046\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Read_trimming\"><\/span><b>\u30c8\u30ea\u30df\u30f3\u30b0\u3092\u8aad\u3080<\/b><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 300;\">\u751f\u306e\u30ea\u30fc\u30c9\u306eQC\u306f\u3001\u554f\u984c\u306e\u3042\u308b\u30b5\u30f3\u30d7\u30eb\u3092\u7279\u5b9a\u3059\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u304c\u3001\u30ea\u30fc\u30c9\u306e\u5b9f\u969b\u306e\u54c1\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u306b\u306f\u3001\u30ea\u30fc\u30c9\u3092\u30c8\u30ea\u30df\u30f3\u30b0\u3057\u3066\u3001\u6280\u8853\u7684\u306a\u914d\u5217\u3084\u4f4e\u54c1\u8cea\u306e\u672b\u7aef\u3092\u53d6\u308a\u9664\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u6280\u8853\u7684\u306a\u914d\u5217\u3068\u306f\u3001\u5b9f\u9a13\u624b\u9806\u306e\u6b8b\u308a\u7269\u3067\u3042\u308b\uff08\u4f8b\uff1a\u914d\u5217\u6c7a\u5b9a\u30a2\u30c0\u30d7\u30bf\u30fc\uff09\u3002\u3053\u306e\u3088\u3046\u306a\u914d\u5217\u304c\u30ea\u30fc\u30c9\u306e\u771f\u306e\u914d\u5217\u306b\u96a3\u63a5\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\uff08\u4e0b\u8a18\u53c2\u7167\uff09\u306b\u3088\u3063\u3066\u30ea\u30fc\u30c9\u304c\u30b2\u30ce\u30e0\u306e\u8aa4\u3063\u305f\u4f4d\u7f6e\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3055\u308c\u305f\u308a\u3001\u3042\u308b\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u306e\u4fe1\u983c\u6027\u304c\u4f4e\u4e0b\u3057\u305f\u308a\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u6280\u8853\u7684\u306a\u914d\u5217\u4ee5\u5916\u306b\u3082\u3001\u751f\u7269\u5b66\u7684\u7531\u6765\u306e\u914d\u5217\u304c\u30ea\u30fc\u30c9\u306e\u4e2d\u306b\u591a\u304f\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u305d\u308c\u3089\u306e\u914d\u5217\u3092\u9664\u53bb\u3057\u305f\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001DNA\u306e\u8abf\u88fd\u65b9\u6cd5\u304c\u6700\u9069\u3067\u306a\u3044\u5834\u5408\u3001DNA\u306b\u5909\u63db\u3055\u308c\u305f\u30ea\u30dc\u30bd\u30fc\u30e0RNA\uff08rRNA\uff09\u304c\u30b5\u30f3\u30d7\u30eb\u4e2d\u306b\u9ad8\u3044\u5272\u5408\u3067\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u30bf\u30a4\u30d7\u306e\u6838\u9178\u304c\u30b7\u30fc\u30b1\u30f3\u30b9\u5b9f\u9a13\u306e\u30bf\u30fc\u30b2\u30c3\u30c8\u3067\u306a\u3044\u9650\u308a\u3001rRNA\u306b\u7531\u6765\u3059\u308b\u30ea\u30fc\u30c9\u3092\u6b8b\u3057\u3066\u304a\u304f\u3068\u3001\u4e0b\u6d41\u5de5\u7a0b\u306e\u8a08\u7b97\u8ca0\u8377\u304c\u5897\u5927\u3057\u3001\u7d50\u679c\u304c\u6df7\u4e71\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u306a\u304a\u3001\u30c6\u30af\u30cb\u30ab\u30eb\u30b7\u30fc\u30b1\u30f3\u30b9\u3001rRNA\u3001\u305d\u306e\u4ed6\u306e\u30b3\u30f3\u30bf\u30df\u306e\u30ec\u30d9\u30eb\u304c\u975e\u5e38\u306b\u9ad8\u3044\u5834\u5408\u3001\u304a\u305d\u3089\u304fQC\u3067\u3059\u3067\u306b\u30cf\u30a4\u30e9\u30a4\u30c8\u3055\u308c\u3066\u3044\u308b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u5834\u5408\u306f\u3001\u30b7\u30fc\u30b1\u30f3\u30b9\u30b5\u30f3\u30d7\u30eb\u5168\u4f53\u3092\u5ec3\u68c4\u3057\u305f\u65b9\u304c\u3088\u3044\u3067\u3057\u3087\u3046\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u30b7\u30e7\u30fc\u30c8\u30ea\u30fc\u30c9\u30b7\u30fc\u30b1\u30f3\u30b9\u3067\u306f\u3001DNA\u306e\u5869\u57fa\u914d\u5217\u30921\u5869\u57fa\u305a\u3064\uff08\u53b3\u5bc6\u306b\u306f\u30b7\u30fc\u30b1\u30f3\u30b9\u30b5\u30a4\u30af\u30eb\u3054\u3068\u306b1\u5869\u57fa\u305a\u3064\uff09\u6c7a\u5b9a\u3057\u307e\u3059\u3002\u8a00\u3044\u63db\u3048\u308c\u3070\u3001\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u30b5\u30a4\u30af\u30eb\u6570\u304c\u30ea\u30fc\u30c9\u9577\u3092\u6c7a\u5b9a\u3059\u308b\u3002HTS\u6cd5\u306e\u554f\u984c\u70b9\u3068\u3057\u3066\u3001\u30b7\u30fc\u30b1\u30f3\u30b9\u30b5\u30a4\u30af\u30eb\u3092\u91cd\u306d\u308b\u3054\u3068\u306b\u3001\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u3092\u6c7a\u5b9a\u3059\u308b\u7cbe\u5ea6\u304c\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u3002\u3053\u308c\u306f\u3001\u5869\u57fa\u3054\u3068\u306e\u30b3\u30fc\u30ea\u30f3\u30b0\u54c1\u8cea\u306e\u5168\u4f53\u7684\u306a\u4f4e\u4e0b\u306b\u53cd\u6620\u3055\u308c\u3001\u7279\u306b\u30ea\u30fc\u30c9\u306e\u6700\u5f8c\u306e\u65b9\u3067\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002\u6280\u8853\u7684\u306a\u914d\u5217\u306e\u5834\u5408\u3068\u540c\u69d8\u306b\u3001\u54c1\u8cea\u306e\u4f4e\u3044\u672b\u7aef\u3092\u542b\u3080\u30ea\u30fc\u30c9\u3092\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\u3057\u3088\u3046\u3068\u3059\u308b\u3068\u3001\u8aa4\u914d\u7f6e\u3084\u30de\u30c3\u30d4\u30f3\u30b0\u54c1\u8cea\u306e\u4f4e\u4e0b\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u6280\u8853\u7684\u30fb\u6c5a\u67d3\u7684\u306a\u914d\u5217\u3084\u4f4e\u54c1\u8cea\u306e\u672b\u7aef\u3092\u9664\u53bb\u3059\u308b\u305f\u3081\u306b\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30ea\u30fc\u30c9\u30c8\u30ea\u30df\u30f3\u30b0\u30c4\u30fc\u30eb\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002 <\/span><a href=\"http:\/\/www.usadellab.org\/cms\/?page=trimmomatic\"><span style=\"font-weight: 300;\">\u30c8\u30ea\u30e2\u30de\u30c6\u30a3\u30c3\u30af<\/span><\/a><span style=\"font-weight: 300;\"> \u305d\u3057\u3066 <\/span><a href=\"https:\/\/cutadapt.readthedocs.io\/en\/stable\/\"><span style=\"font-weight: 300;\">\u30ab\u30c3\u30c8\u30c0\u30c3\u30d7<\/span><\/a><span style=\"font-weight: 300;\"> \u304c\u5b58\u5728\u3057\u3001\u5e83\u304f\u5229\u7528\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u30c4\u30fc\u30eb\u306f\u3001\u6280\u8853\u7684\u306a\u914d\u5217\uff08\u793e\u5185\u3067\u5165\u624b\u53ef\u80fd\u306a\u3082\u306e\u3084\u30e6\u30fc\u30b6\u30fc\u304c\u63d0\u4f9b\u3057\u305f\u3082\u306e\uff09\u3092\u53d6\u308a\u9664\u304d\u3001\u54c1\u8cea\u306b\u57fa\u3065\u3044\u3066\u30ea\u30fc\u30c9\u3092\u30c8\u30ea\u30df\u30f3\u30b0\u3057\u3001\u30ea\u30fc\u30c9\u306e\u9577\u3055\u3092\u6700\u5927\u5316\u3057\u307e\u3059\u3002\u30c8\u30ea\u30df\u30f3\u30b0\u5f8c\u306b\u77ed\u3059\u304e\u308b\u30ea\u30fc\u30c9\u306f\u5ec3\u68c4\u3055\u308c\u307e\u3059\uff0836\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u672a\u6e80\u306a\u3069\u3001\u904e\u5ea6\u306b\u77ed\u3044\u30ea\u30fc\u30c9\u306f\u3001\u30b2\u30ce\u30e0\u306e\u8907\u6570\u306e\u90e8\u4f4d\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u305f\u3081\u3001\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u306e\u30b9\u30c6\u30c3\u30d7\u304c\u8907\u96d1\u306b\u306a\u308a\u307e\u3059\uff09\u3002\u5ec3\u68c4\u3055\u308c\u308b\u30ea\u30fc\u30c9\u306e\u5272\u5408\u304c\u9ad8\u3044\u3068\u3001\u30c7\u30fc\u30bf\u306e\u8cea\u304c\u60aa\u3044\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u306e\u3067\u3001\u30c8\u30ea\u30df\u30f3\u30b0\u306b\u6210\u529f\u3057\u305f\u30ea\u30fc\u30c9\u306e\u5272\u5408\u3092\u898b\u3066\u307f\u308b\u3068\u3088\u3044\u3067\u3057\u3087\u3046\u3002\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u6700\u5f8c\u306b\u3001\u901a\u5e38\u306f\u30c8\u30ea\u30df\u30f3\u30b0\u3055\u308c\u305f\u30ea\u30fc\u30c9\u306b\u5bfe\u3057\u3066FastQC\u3092\u518d\u5b9f\u884c\u3057\u3001\u3053\u306e\u30b9\u30c6\u30c3\u30d7\u304c\u52b9\u679c\u7684\u3067\u3042\u308a\u3001QC\u30e1\u30c8\u30ea\u30af\u30b9\u304c\u4f53\u7cfb\u7684\u306b\u6539\u5584\u3055\u308c\u305f\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Alignment\"><\/span><b>\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8<\/b><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 300;\">\u4f8b\u5916\u306f\u3042\u308a\u307e\u3059\u304c\uff08\u4f8b <\/span><a href=\"https:\/\/en.wikipedia.org\/wiki\/De_novo_sequence_assemblers\"><span style=\"font-weight: 300;\">\u30c7\u30fb\u30ce\u30dc\u30fb\u30a2\u30bb\u30f3\u30d6\u30ea\u30fc<\/span><\/a><span style=\"font-weight: 300;\">)\u3001\u307b\u3068\u3093\u3069\u306eHTS\u30c7\u30fc\u30bf\u30bf\u30a4\u30d7\u3068\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u3067\u306f\u3001\u901a\u5e38\u3001\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\uff08\u30de\u30c3\u30d4\u30f3\u30b0\u3068\u3082\u547c\u3070\u308c\u308b\uff09\u304c\u6b21\u306e\u30b9\u30c6\u30c3\u30d7\u306b\u306a\u308a\u307e\u3059\u3002\u30ea\u30fc\u30c9\u306e\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\u3067\u306f\u3001\u30ea\u30fc\u30c9\u306e\u914d\u5217\u304c\u7531\u6765\u3059\u308b\u30b2\u30ce\u30e0\u4e0a\u306e\u4f4d\u7f6e\u3092\u6c7a\u5b9a\u3057\u307e\u3059\uff08\u901a\u5e38\u3001\u67d3\u8272\u4f53\uff1a\u30b9\u30bf\u30fc\u30c8\u30a8\u30f3\u30c9\u3067\u8868\u3055\u308c\u307e\u3059\uff09\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u3053\u306e\u30b9\u30c6\u30c3\u30d7\u3067\u306f\u3001\u30ea\u30fc\u30c9\u3092\u30a2\u30e9\u30a4\u30f3\/\u30de\u30c3\u30d4\u30f3\u30b0\u3059\u308b\u305f\u3081\u306e\u53c2\u7167\u914d\u5217\u3092\u4f7f\u7528\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u53c2\u7167\u914d\u5217\u306e\u9078\u629e\u306f\u3001\u8907\u6570\u306e\u8981\u7d20\u306b\u3088\u3063\u3066\u6c7a\u5b9a\u3055\u308c\u307e\u3059\u30021\u3064\u306f\u3001\u914d\u5217\u6c7a\u5b9a\u3055\u308c\u305fDNA\u306e\u7531\u6765\u3068\u306a\u308b\u751f\u7269\u7a2e\u3067\u3059\u3002\u9ad8\u54c1\u8cea\u306e\u53c2\u7167\u914d\u5217\u304c\u5229\u7528\u53ef\u80fd\u306a\u7a2e\u306e\u6570\u306f\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u306a\u3044\u751f\u7269\u3067\u306f\u307e\u3060\u305d\u3046\u3067\u306f\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u3088\u3046\u306a\u5834\u5408\u306b\u306f\u3001\u53c2\u7167\u30b2\u30ce\u30e0\u304c\u5229\u7528\u53ef\u80fd\u306a\u9032\u5316\u7684\u306b\u8fd1\u3044\u7a2e\u306b\u30ea\u30fc\u30c9\u3092\u30a2\u30e9\u30a4\u30f3\u3059\u308b\u3068\u3088\u3044\u3067\u3057\u3087\u3046\u3002\u4f8b\u3048\u3070\u3001\u30b3\u30e8\u30fc\u30c6\u306e\u30b2\u30ce\u30e0\u306b\u306f\u53c2\u7167\u914d\u5217\u304c\u306a\u3044\u306e\u3067\u3001\u8fd1\u7e01\u7a2e\u3067\u3042\u308b\u72ac\u306e\u30b2\u30ce\u30e0\u3092\u30ea\u30fc\u30c9\u306e\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u306b\u5229\u7528\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u540c\u69d8\u306b\u3001\u3088\u308a\u9ad8\u54c1\u8cea\u306a\u53c2\u7167\u914d\u5217\u304c\u5b58\u5728\u3059\u308b\u8fd1\u7e01\u7a2e\u306b\u30ea\u30fc\u30c9\u3092\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\u3057\u305f\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u30c6\u30ca\u30ac\u30b6\u30eb\u306e\u30b2\u30ce\u30e0\u306f\u3001\u3059\u3067\u306b <\/span><a href=\"https:\/\/www.nature.com\/articles\/nature13679\"><span style=\"font-weight: 300;\">\u516c\u958b<\/span><\/a><span style=\"font-weight: 300;\">\u3053\u306e\u3088\u3046\u306a\u5834\u5408\u3001\u30d2\u30c8\u306e\u53c2\u7167\u914d\u5217\u3092\u7528\u3044\u3066\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u3092\u884c\u3046\u3053\u3068\u304c\u6709\u52b9\u3067\u3059\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u307e\u305f\u3001\u914d\u5217\u306e\u66f4\u65b0\u3084\u6539\u826f\u306b\u4f34\u3044\u3001\u65b0\u3057\u3044\u30d0\u30fc\u30b8\u30e7\u30f3\u304c\u30ea\u30ea\u30fc\u30b9\u3055\u308c\u308b\u305f\u3081\u3001\u57fa\u6e96\u914d\u5217\u30a2\u30bb\u30f3\u30d6\u30ea\u306e\u30d0\u30fc\u30b8\u30e7\u30f3\u3082\u8003\u616e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u91cd\u8981\u306a\u306e\u306f\u3001\u3042\u308b\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u306e\u5ea7\u6a19\u304c\u30d0\u30fc\u30b8\u30e7\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3053\u3068\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u8907\u6570\u306e\u30d0\u30fc\u30b8\u30e7\u30f3\u306f <\/span><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgGateway?redirect=manual&amp;source=genome.ucsc.edu\"><span style=\"font-weight: 300;\">UCSC Genome Browser<\/span><\/a><span style=\"font-weight: 300;\">.\u3044\u305a\u308c\u306b\u3057\u3066\u3082\u3001\u6700\u65b0\u306e\u30a2\u30bb\u30f3\u30d6\u30ea\u30d0\u30fc\u30b8\u30e7\u30f3\u304c\u5b8c\u5168\u306b\u30ea\u30ea\u30fc\u30b9\u3055\u308c\u305f\u3089\u3001\u305d\u306e\u30d0\u30fc\u30b8\u30e7\u30f3\u306b\u79fb\u884c\u3059\u308b\u3053\u3068\u3092\u5f37\u304f\u304a\u52e7\u3081\u3057\u307e\u3059\u3002\u79fb\u884c\u4e2d\u306f\u3001\u65e2\u5b58\u306e\u7d50\u679c\u304c\u53e4\u3044\u30d0\u30fc\u30b8\u30e7\u30f3\u3068\u306e\u6bd4\u8f03\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u591a\u5c11\u306e\u8ff7\u60d1\u304c\u304b\u304b\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u9577\u3044\u76ee\u3067\u898b\u308c\u3070\u5f97\u7b56\u3067\u3059\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u307e\u305f\u3001\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30c7\u30fc\u30bf\u306e\u7a2e\u985e\u3082\u91cd\u8981\u3067\u3059\u3002DNA-seq\u3001ChIP-seq\u3001\u307e\u305f\u306fHi-C\u30d7\u30ed\u30c8\u30b3\u30eb\u304b\u3089\u751f\u6210\u3055\u308c\u305f\u30ea\u30fc\u30c9\u306f\u3001\u30b2\u30ce\u30e0\u306e\u53c2\u7167\u914d\u5217\u306b\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u3055\u308c\u307e\u3059\u3002\u4e00\u65b9\u3001DNA\u304b\u3089\u8ee2\u5199\u3055\u308c\u305fRNA\u306f\u3001\u3055\u3089\u306bmRNA\u306b\u52a0\u5de5\u3055\u308c\u308b\uff08\u30a4\u30f3\u30c8\u30ed\u30f3\u304c\u9664\u53bb\u3055\u308c\u308b\uff09\u305f\u3081\u3001\u591a\u304f\u306eRNA-seq\u30ea\u30fc\u30c9\u306f\u3001\u30b2\u30ce\u30e0\u53c2\u7167\u914d\u5217\u306b\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u3067\u304d\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u30c8\u30e9\u30f3\u30b9\u30af\u30ea\u30d7\u30c8\u30fc\u30e0\u53c2\u7167\u914d\u5217\u306b\u30a2\u30e9\u30a4\u30f3\u3059\u308b\u304b\u3001\u30b2\u30ce\u30e0\u914d\u5217\u3092\u53c2\u7167\u3059\u308b\u5834\u5408\u306f\u30b9\u30d7\u30ea\u30c3\u30c8\u3092\u8003\u616e\u3057\u305f\u30a2\u30e9\u30a4\u30ca\u30fc\uff08\u5f8c\u8ff0\uff09\u3092\u4f7f\u7528\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u95a2\u9023\u3057\u3066\u3001\u53c2\u7167\u914d\u5217\u306e\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u3064\u307e\u308a\u3001\u907a\u4f1d\u5b50\u3001\u8ee2\u5199\u7523\u7269\u3001\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u306a\u3069\u306e\u5ea7\u6a19\u3092\u6301\u3064\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306e\u30bd\u30fc\u30b9\u306e\u9078\u629e\u304c\u3042\u308a\u307e\u3059\u3002\u79c1\u304c\u901a\u5e38\u4f7f\u7528\u3059\u308b\u306e\u306f <\/span><a href=\"https:\/\/www.gencodegenes.org\/human\/\"><span style=\"font-weight: 300;\">GENCODE\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3<\/span><\/a><span style=\"font-weight: 300;\"> \u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u8ee2\u5199\u7523\u7269\u306e\u914d\u5217\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3044\u308b\u304b\u3089\u3067\u3059\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u30b7\u30e7\u30fc\u30c8\u30ea\u30fc\u30c9\u914d\u5217\u306e\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u30c4\u30fc\u30eb\u306f\u6570\u591a\u304f\u958b\u767a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u300c\u30b7\u30e7\u30fc\u30c8\u30ea\u30fc\u30c9\u914d\u5217\u306e\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u300d\u306e\u9805\u53c2\u7167\uff09\u3002 <\/span><a href=\"https:\/\/en.wikipedia.org\/wiki\/List_of_sequence_alignment_software\"><span style=\"font-weight: 300;\">\u3053\u308c<\/span><\/a><span style=\"font-weight: 300;\">).\u3053\u308c\u3089\u306e\u30c4\u30fc\u30eb\u3092\u30ec\u30d3\u30e5\u30fc\u3059\u308b\u3053\u3068\u306f\u3001\u3053\u306e\u8a18\u4e8b\u306e\u7bc4\u56f2\u3092\u8d85\u3048\u3066\u3044\u307e\u3059\uff08\u3053\u308c\u3089\u306e\u30c4\u30fc\u30eb\u306e\u80cc\u5f8c\u306b\u3042\u308b\u30a2\u30eb\u30b4\u30ea\u30ba\u30e0\u306e\u8a73\u7d30\u306b\u3064\u3044\u3066\u306f\u3001\u4ee5\u4e0b\u3092\u53c2\u7167\u3057\u3066\u304f\u3060\u3055\u3044\uff09\u3002 <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5425171\/\"><span style=\"font-weight: 300;\">\u3053\u308c<\/span><\/a><span style=\"font-weight: 300;\">).\u79c1\u306e\u7d4c\u9a13\u3067\u306f\u3001\u6700\u3082\u4eba\u6c17\u304c\u3042\u308b\u306e\u306f <\/span><a href=\"http:\/\/bowtie-bio.sourceforge.net\/bowtie2\/index.shtml\"><span style=\"font-weight: 300;\">\u30dc\u30a6\u30bf\u30a42<\/span><\/a><span style=\"font-weight: 300;\">, <\/span><a href=\"http:\/\/bio-bwa.sourceforge.net\/\"><span style=\"font-weight: 300;\">BWA<\/span><\/a><span style=\"font-weight: 300;\">, <\/span><a href=\"http:\/\/daehwankimlab.github.io\/hisat2\/\"><span style=\"font-weight: 300;\">HISAT2<\/span><\/a><span style=\"font-weight: 300;\">, <\/span><a href=\"https:\/\/github.com\/lh3\/minimap2\"><span style=\"font-weight: 300;\">Minimap2<\/span><\/a><span style=\"font-weight: 300;\">, <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3530905\/\"><span style=\"font-weight: 300;\">\u30b9\u30bf\u30fc<\/span><\/a><span style=\"font-weight: 300;\"> \u305d\u3057\u3066 <\/span><a href=\"http:\/\/ccb.jhu.edu\/software\/tophat\/index.shtml\"><span style=\"font-weight: 300;\">\u30c8\u30c3\u30d7\u30cf\u30c3\u30c8<\/span><\/a><span style=\"font-weight: 300;\">.\u79c1\u304c\u304a\u52e7\u3081\u3059\u308b\u306e\u306f\u3001HTS\u30c7\u30fc\u30bf\u306e\u7a2e\u985e\u306a\u3069\u306e\u91cd\u8981\u306a\u8981\u7d20\u3092\u8003\u616e\u3057\u3066\u30a2\u30e9\u30a4\u30ca\u30fc\u3092\u9078\u629e\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/span><span style=\"font-weight: 300;\"> \u3068\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u3001\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u306b\u53d7\u3051\u5165\u308c\u3089\u308c\u3066\u3044\u308b\u304b\u3001\u30c9\u30ad\u30e5\u30e1\u30f3\u30c8\u306e\u8cea\u3001\u30e6\u30fc\u30b6\u30fc\u6570\u306a\u3069\u3092\u8003\u616e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001RNA-seq\u3092\u30b2\u30ce\u30e0\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3059\u308b\u969b\u306b\u306f\u3001STAR\u3084Bowtie2\u306e\u3088\u3046\u306b\u30a8\u30af\u30bd\u30f3-\u30a8\u30af\u30bd\u30f3\u63a5\u5408\u90e8\u3092\u8a8d\u8b58\u3059\u308b\u30a2\u30e9\u30a4\u30ca\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u591a\u304f\u306e\u30de\u30c3\u30d1\u30fc\u306b\u5171\u901a\u3057\u3066\u3044\u308b\u306e\u306f\u3001\u5b9f\u969b\u306e\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\u3092\u884c\u3046\u524d\u306b\u3001\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\u3068\u3057\u3066\u4f7f\u7528\u3059\u308b\u914d\u5217\u306b\u30a4\u30f3\u30c7\u30c3\u30af\u30b9\u3092\u4ed8\u3051\u308b\u5fc5\u8981\u304c\u3042\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u30b9\u30c6\u30c3\u30d7\u306f\u6642\u9593\u304c\u304b\u304b\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5404\u53c2\u7167\u914d\u5217\u306b\u5bfe\u3057\u30661\u56de\u3060\u3051\u884c\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u30de\u30c3\u30d1\u30fc\u306f\u3001SAM\/BAM\u30d5\u30a1\u30a4\u30eb\u306b\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u3092\u4fdd\u5b58\u3057\u307e\u3059\u3002 <\/span><a href=\"https:\/\/samtools.github.io\/hts-specs\/SAMv1.pdf\"><span style=\"font-weight: 300;\">SAM\/BAM\u30d5\u30a9\u30fc\u30de\u30c3\u30c8<\/span><\/a><span style=\"font-weight: 300;\"> (BAM\u30d5\u30a1\u30a4\u30eb\u306f\u3001SAM\u30d5\u30a1\u30a4\u30eb\u306e\u30d0\u30a4\u30ca\u30ea\u7248\uff09\u3002)\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u306f\u3001\u30b7\u30fc\u30b1\u30f3\u30b9\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u306b\u304a\u3044\u3066\u6700\u3082\u8a08\u7b97\u91cf\u304c\u591a\u304f\u3001\u6642\u9593\u304c\u304b\u304b\u308b\u30b9\u30c6\u30c3\u30d7\u3067\u3042\u308a\u3001SAM\/BAM\u30d5\u30a1\u30a4\u30eb\u306f\u91cd\u3044\uff08\u30ae\u30ac\u30d0\u30a4\u30c8\u5358\u4f4d\uff09\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\u3092\u9069\u5ea6\u306a\u6642\u9593\u3067\u5b9f\u884c\u3057\u3001\u7d50\u679c\u3092\u4fdd\u5b58\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u30ea\u30bd\u30fc\u30b9\uff08\u4e0b\u8a18\u306e\u6700\u7d42\u30bb\u30af\u30b7\u30e7\u30f3\u3092\u53c2\u7167\uff09\u3092\u78ba\u4fdd\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308b\u3002\u540c\u69d8\u306b\u3001BAM\u30d5\u30a1\u30a4\u30eb\u306e\u30b5\u30a4\u30ba\u3068\u30d0\u30a4\u30ca\u30ea\u5f62\u5f0f\u306e\u305f\u3081\u3001\u30c6\u30ad\u30b9\u30c8\u30a8\u30c7\u30a3\u30bf\u30fc\u3067\u958b\u304f\u3053\u3068\u306f\u907f\u3051\u3001\u4ee3\u308f\u308a\u306bUnix\u30b3\u30de\u30f3\u30c9\u307e\u305f\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5c02\u7528\u30c4\u30fc\u30eb\u3092\u4f7f\u7528\u3057\u3066\u304f\u3060\u3055\u3044\u3002 <\/span><a href=\"http:\/\/www.htslib.org\/\"><span style=\"font-weight: 300;\">SAM\u30c4\u30fc\u30eb<\/span><\/a><span style=\"font-weight: 300;\">.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"From_the_alignments\"><\/span><b>\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u304b\u3089<\/b><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 300;\">HTS\u30c7\u30fc\u30bf\u306e\u7a2e\u985e\u3084\u7528\u9014\u306b\u3088\u3063\u3066\u3082\u7570\u306a\u308b\u305f\u3081\u3001\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u5f8c\u306e\u660e\u78ba\u306a\u5171\u901a\u30b9\u30c6\u30c3\u30d7\u306f\u306a\u3044\u3068\u8a00\u3048\u308b\u3067\u3057\u3087\u3046\u3002\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 300;\">DNA-seq\u30c7\u30fc\u30bf\u306e\u4e00\u822c\u7684\u306a\u30c0\u30a6\u30f3\u30b9\u30c8\u30ea\u30fc\u30e0\u89e3\u6790\u306f\u3001\u30d0\u30ea\u30a2\u30f3\u30c8\u30b3\u30fc\u30ea\u30f3\u30b0\u3067\u3042\u308a\u3001\u3053\u308c\u306f\u3001\u30b2\u30ce\u30e0\u306e\u4e2d\u3067\u3001\u30b2\u30ce\u30e0\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\u3068\u306e\u76f8\u5bfe\u7684\u306a\u5dee\u7570\u3084\u500b\u4eba\u9593\u306e\u5dee\u7570\u304c\u3042\u308b\u4f4d\u7f6e\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u305f\u3081\u306e\u4e00\u822c\u7684\u306a\u89e3\u6790\u30d5\u30ec\u30fc\u30e0\u30ef\u30fc\u30af\u306f <\/span><a href=\"https:\/\/gatk.broadinstitute.org\/hc\/en-us\"><span style=\"font-weight: 300;\">GATK<\/span><\/a><span style=\"font-weight: 300;\"> \u4e00\u5869\u57fa\u591a\u578b\uff08SNP\uff09\u3084\u5c0f\u3055\u306a\u633f\u5165\uff0f\u6b20\u5931\uff08\u30a4\u30f3\u30c7\u30eb\uff09\u306e\u305f\u3081\u306b(<\/span><b>\u56f32<\/b><span style=\"font-weight: 300;\">).\u3088\u308a\u5927\u304d\u306aDNA\u306e\u584a\u304b\u3089\u306a\u308b\u30d0\u30ea\u30a2\u30f3\u30c8\uff08\u69cb\u9020\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u3068\u3082\u547c\u3070\u308c\u308b\uff09\u306b\u306f\u3001\u5c02\u7528\u306e\u547c\u3073\u51fa\u3057\u65b9\u6cd5\u304c\u5fc5\u8981\u3067\u3059\uff08\u4e0b\u8a18\u53c2\u7167\uff09\u3002 <\/span><a href=\"https:\/\/genomebiology.biomedcentral.com\/articles\/10.1186\/s13059-019-1720-5\"><span style=\"font-weight: 300;\">\u672c\u8a18\u4e8b<\/span><\/a><span style=\"font-weight: 300;\"> \u3092\u53c2\u7167\u3057\u3066\u304f\u3060\u3055\u3044\u3002)\u30a2\u30e9\u30a4\u30ca\u30fc\u3068\u540c\u69d8\u306b\u3001\u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u7a2e\u985e\uff08SNP\u3001\u30a4\u30f3\u30c7\u30eb\u3001\u69cb\u9020\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\uff09\u3001\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u306b\u53d7\u3051\u5165\u308c\u3089\u308c\u3066\u3044\u308b\u304b\u3001\u30c9\u30ad\u30e5\u30e1\u30f3\u30c8\u306e\u8cea\u3001\u30e6\u30fc\u30b6\u30fc\u6570\u306a\u3069\u306e\u91cd\u8981\u306a\u8981\u7d20\u3092\u8003\u616e\u3057\u3066\u9069\u5207\u306a\u30c4\u30fc\u30eb\u3092\u9078\u629e\u3059\u308b\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002<\/span><\/p>\n<p><img decoding=\"async\" loading=\"lazy\" class=\"alignnone wp-image-7262 size-large\" src=\"https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/gatk-1024x576.png\" alt=\"\" width=\"702\" height=\"395\" srcset=\"https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/gatk-1024x576.png 1024w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/gatk-300x169.png 300w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/gatk-768x432.png 768w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/gatk-1536x864.png 1536w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/gatk-1080x608.png 1080w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/gatk.png 1600w, https:\/\/www.kolabtree.com\/blog\/wp-content\/uploads\/2020\/03\/gatk-300x169@2x.png 600w\" sizes=\"(max-width: 702px) 100vw, 702px\" \/><\/p>\n<p><span style=\"font-weight: 300;\">RNA-seq\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u3001\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u91cf\u306e\u5b9a\u91cf\u5316\u3067\u3042\u308d\u3046\u3002\u6b74\u53f2\u7684\u306b\u306f\u3001\u30ea\u30fc\u30c9\u3092\u53c2\u7167\u914d\u5217\u306b\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\u3057\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u3084\u8ee2\u5199\u7523\u7269\u306b\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\u3055\u308c\u305f\u30ea\u30fc\u30c9\u306e\u6570\u3092\u3001\u305d\u306e\u767a\u73fe\u30ec\u30d9\u30eb\u3092\u5b9a\u91cf\u5316\u3059\u308b\u305f\u3081\u306e\u30d7\u30ed\u30ad\u30b7\u3068\u3057\u3066\u4f7f\u7528\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3057\u305f\u3002\u3053\u306e\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\uff0b\u5b9a\u91cf\u5316\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30c4\u30fc\u30eb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002 <\/span><a href=\"http:\/\/cole-trapnell-lab.github.io\/cufflinks\/manual\/\"><span style=\"font-weight: 300;\">\u30ab\u30d5\u30ea\u30f3\u30af\u30b9<\/span><\/a><span style=\"font-weight: 300;\">, <\/span><a href=\"https:\/\/github.com\/deweylab\/RSEM\"><span style=\"font-weight: 300;\">RSEM<\/span><\/a><span style=\"font-weight: 300;\"> \u307e\u305f\u306f <\/span><a href=\"http:\/\/subread.sourceforge.net\/\"><span style=\"font-weight: 300;\">featureCounts<\/span><\/a><span style=\"font-weight: 300;\">.\u3057\u304b\u3057\u3001\u3053\u306e\u624b\u6cd5\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u306b\u5b9f\u88c5\u3055\u308c\u305f\u65b0\u3057\u3044\u624b\u6cd5\u306b\u53d6\u3063\u3066\u4ee3\u308f\u3089\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002 <\/span><a href=\"https:\/\/pachterlab.github.io\/kallisto\/\"><span style=\"font-weight: 300;\">\u30ab\u30ea\u30b9\u30c8<\/span><\/a><span style=\"font-weight: 300;\"> \u305d\u3057\u3066 <\/span><a href=\"https:\/\/combine-lab.github.io\/salmon\/\"><span style=\"font-weight: 300;\">\u30b5\u30fc\u30e2\u30f3<\/span><\/a><span style=\"font-weight: 300;\">.\u6982\u5ff5\u7684\u306b\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u30c4\u30fc\u30eb\u3067\u306f\u3001\u30ea\u30fc\u30c9\u306e\u5168\u914d\u5217\u3092\u53c2\u7167\u914d\u5217\u306b\u30a2\u30e9\u30a4\u30f3\u3059\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u4ee3\u308f\u308a\u306b\u3001\u30ea\u30fc\u30c9\u304c\u3042\u308b\u8ee2\u5199\u7523\u7269\u306b\u7531\u6765\u3059\u308b\u3068\u78ba\u4fe1\u3067\u304d\u308b\u3060\u3051\u306e\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u3092\u30a2\u30e9\u30a4\u30f3\u3059\u308b\u3060\u3051\u3067\u3088\u3044\u3002\u7c21\u5358\u306b\u8a00\u3048\u3070\u3001\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\uff0b\u5b9a\u91cf\u5316\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u304c1\u3064\u306e\u30b9\u30c6\u30c3\u30d7\u306b\u77ed\u7e2e\u3055\u308c\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u306f\u7591\u4f3c\u30de\u30c3\u30d4\u30f3\u30b0\u3068\u547c\u3070\u308c\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u5b9a\u91cf\u5316\u306e\u30b9\u30d4\u30fc\u30c9\u3092\u5927\u5e45\u306b\u5411\u4e0a\u3055\u305b\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u7591\u4f3c\u30de\u30c3\u30d4\u30f3\u30b0\u306f\u3001\u30d5\u30eb\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\u304c\u5fc5\u8981\u306a\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u4f8b\uff1aRNA-seq\u30c7\u30fc\u30bf\u304b\u3089\u306e\u30d0\u30ea\u30a2\u30f3\u30c8\u30b3\u30fc\u30eb\uff09\u306b\u306f\u9069\u3057\u3066\u3044\u306a\u3044\u3053\u3068\u306b\u6ce8\u610f\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u7528\u3044\u305f\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u3067\u3001\u4e0b\u6d41\u306e\u89e3\u6790\u30b9\u30c6\u30c3\u30d7\u3084\u5fc5\u8981\u306a\u30c4\u30fc\u30eb\u304c\u7570\u306a\u308b\u3082\u3046\u4e00\u3064\u306e\u4f8b\u304cChIP-seq\u3067\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u624b\u6cd5\u3067\u751f\u6210\u3055\u308c\u305f\u30ea\u30fc\u30c9\u306f\u3001\u30d4\u30fc\u30af\u30b3\u30fc\u30ea\u30f3\u30b0\u306b\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002\u30d4\u30fc\u30af\u30b3\u30fc\u30ea\u30f3\u30b0\u3068\u306f\u3001\u30bf\u30fc\u30b2\u30c3\u30c8\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7d50\u5408\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u3059\u30ea\u30fc\u30c9\u304c\u8457\u3057\u304f\u591a\u3044\u9818\u57df\u3092\u30b2\u30ce\u30e0\u4e0a\u3067\u691c\u51fa\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u3044\u304f\u3064\u304b\u306e\u30d4\u30fc\u30af\u30ad\u30e3\u30e9\u30fc\u304c\u5b58\u5728\u3057\u3066\u304a\u308a <\/span><a href=\"https:\/\/academic.oup.com\/bib\/article\/18\/3\/441\/2453291\"><span style=\"font-weight: 300;\">\u672c\u8a8c<\/span><\/a><span style=\"font-weight: 300;\"> \u3092\u8abf\u67fb\u3057\u3066\u3044\u307e\u3059\u3002\u6700\u5f8c\u306e\u4f8b\u3068\u3057\u3066\u3001Hi-C\u30c7\u30fc\u30bf\u3092\u7d39\u4ecb\u3057\u307e\u3059\u3002Hi-C\u30c7\u30fc\u30bf\u3067\u306f\u3001\u76f8\u4e92\u4f5c\u7528\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u3092\u6c7a\u5b9a\u3059\u308b\u30c4\u30fc\u30eb\u306e\u5165\u529b\u3068\u3057\u3066\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\u304c\u4f7f\u7528\u3055\u308c\u3001\u3053\u308c\u3089\u304b\u3089\u30b2\u30ce\u30e0\u306e3D\u7279\u5fb4\u304c\u6c7a\u5b9a\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u306e\u7bc4\u56f2\u3092\u8d85\u3048\u305f\u30b7\u30fc\u30b1\u30f3\u30b9\u30d9\u30fc\u30b9\u306e\u30a2\u30c3\u30bb\u30a4\u3059\u3079\u3066\u306b\u3064\u3044\u3066\u30b3\u30e1\u30f3\u30c8\u3057\u307e\u3059\uff08\u6bd4\u8f03\u7684\u5b8c\u5168\u306a\u30ea\u30b9\u30c8\u306b\u3064\u3044\u3066\u306f <\/span><a href=\"https:\/\/liorpachter.wordpress.com\/seq\/\"><span style=\"font-weight: 300;\">\u672c\u8a18\u4e8b<\/span><\/a><span style=\"font-weight: 300;\">).<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Before_you_start%E2%80%A6\"><\/span><b>\u59cb\u3081\u308b\u524d\u306b...<\/b><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 300;\">\u3053\u306e\u8a18\u4e8b\u306e\u6b8b\u308a\u306e\u90e8\u5206\u3067\u306f\u3001HTS\u30c7\u30fc\u30bf\u306e\u5206\u6790\u306e\u30b9\u30c6\u30c3\u30d7\u3068\u3057\u3066\u53b3\u5bc6\u306b\u306f\u8003\u3048\u3089\u308c\u3066\u3044\u306a\u3044\u304b\u3082\u3057\u308c\u306a\u3044\u3057\u3001\u307b\u3068\u3093\u3069\u7121\u8996\u3055\u308c\u3066\u3044\u308b\u5074\u9762\u306b\u89e6\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u308c\u306b\u5bfe\u3057\u3066\u3001\u79c1\u306f\u3001\u300cHTS\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u300d\u3067\u63d0\u8d77\u3055\u308c\u305f\u8cea\u554f\u306b\u3064\u3044\u3066\u8003\u3048\u308b\u3053\u3068\u304c\u8cc7\u672c\u3067\u3042\u308b\u3068\u4e3b\u5f35\u3057\u307e\u3059\u3002 <\/span><b>\u88681<\/b><span style=\"font-weight: 300;\"> HTS\u30c7\u30fc\u30bf\uff08\u3042\u308b\u3044\u306f\u4ed6\u306e\u7a2e\u985e\u306e\u30c7\u30fc\u30bf\uff09\u306e\u5206\u6790\u3092\u59cb\u3081\u308b\u524d\u306b\u3001\u79c1\u306f\u3053\u308c\u3089\u306e\u30c8\u30d4\u30c3\u30af\u306b\u3064\u3044\u3066\u66f8\u3044\u3066\u304d\u307e\u3057\u305f\u3002 <\/span><a href=\"https:\/\/www.slideshare.net\/slideshow\/embed_code\/key\/vwyxcqSsQTYBhl\"><span style=\"font-weight: 300;\">\u3053\u308c<\/span><\/a><span style=\"font-weight: 300;\"> \u305d\u3057\u3066 <\/span><a href=\"https:\/\/academic.oup.com\/gigascience\/article\/6\/11\/gix100\/4557140\"><span style=\"font-weight: 300;\">\u3053\u308c<\/span><\/a><span style=\"font-weight: 300;\">.<\/span><\/p>\n<p><b>\u88681<\/b><\/p>\n<table>\n<tbody>\n<tr>\n<td><b>\u8003\u3048\u308b<\/b><\/td>\n<td><b>\u63d0\u6848\u3055\u308c\u305f\u30a2\u30af\u30b7\u30e7\u30f3<\/b><\/td>\n<\/tr>\n<tr>\n<td><span style=\"font-weight: 300;\">\u5206\u6790\u306b\u5fc5\u8981\u306a\u30b5\u30f3\u30d7\u30eb\u306e\u60c5\u5831\u306f\u3059\u3079\u3066\u63c3\u3063\u3066\u3044\u307e\u3059\u304b\uff1f<\/span><\/td>\n<td><span style=\"font-weight: 300;\">\u5b9f\u9a13\u306e\u30e1\u30bf\u30c7\u30fc\u30bf\u3092\u4f53\u7cfb\u7684\u306b\u53ce\u96c6\u3059\u308b<\/span><\/td>\n<\/tr>\n<tr>\n<td><span style=\"font-weight: 300;\">\u81ea\u5206\u306e\u30b5\u30f3\u30d7\u30eb\u3092\u660e\u78ba\u306b\u8b58\u5225\u3067\u304d\u308b\u306e\u304b\uff1f<\/span><\/td>\n<td><span style=\"font-weight: 300;\">\u5404\u30b5\u30f3\u30d7\u30eb\u306b\u56fa\u6709\u306e\u8b58\u5225\u5b50\u3092\u4ed8\u4e0e\u3059\u308b\u30b7\u30b9\u30c6\u30e0\u306e\u69cb\u7bc9<\/span><\/td>\n<\/tr>\n<tr>\n<td><span style=\"font-weight: 300;\">\u30c7\u30fc\u30bf\u3084\u7d50\u679c\u306f\u3069\u3053\u306b\u3042\u308b\u306e\u304b\uff1f<\/span><\/td>\n<td><span style=\"font-weight: 300;\">\u30c7\u30fc\u30bf\u306e\u69cb\u9020\u5316\u30fb\u968e\u5c64\u5316<\/span><\/td>\n<\/tr>\n<tr>\n<td><span style=\"font-weight: 300;\">\u8907\u6570\u306e\u30b5\u30f3\u30d7\u30eb\u3092\u30b7\u30fc\u30e0\u30ec\u30b9\u306b\u51e6\u7406\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/span><\/td>\n<td><span style=\"font-weight: 300;\">\u30b9\u30b1\u30fc\u30e9\u30d3\u30ea\u30c6\u30a3\u3001\u4e26\u5217\u5316\u3001\u81ea\u52d5\u8a2d\u5b9a\u3001\u30b3\u30fc\u30c9\u306e\u30e2\u30b8\u30e5\u30fc\u30eb\u5316<\/span><\/td>\n<\/tr>\n<tr>\n<td><span style=\"font-weight: 300;\">\u3042\u306a\u305f\u3084\u4ed6\u306e\u8ab0\u304b\u304c\u3001\u305d\u306e\u7d50\u679c\u3092\u518d\u73fe\u3067\u304d\u308b\u3067\u3057\u3087\u3046\u304b\uff1f<\/span><\/td>\n<td><span style=\"font-weight: 300;\">\u30b3\u30fc\u30c9\u3084\u624b\u9806\u3092\u6587\u66f8\u5316\u3057\u307e\u3057\u3087\u3046<\/span><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>&nbsp;<\/p>\n<p><span style=\"font-weight: 300;\">\u524d\u8ff0\u306e\u3088\u3046\u306b\u3001HTS\u306e\u751f\u30c7\u30fc\u30bf\u3068\u305d\u306e\u89e3\u6790\u3067\u751f\u6210\u3055\u308c\u308b\u30d5\u30a1\u30a4\u30eb\u306e\u4e00\u90e8\u306f\u30ae\u30ac\u30d0\u30a4\u30c8\u5358\u4f4d\u3067\u3042\u308b\u305f\u3081\u3001\u6570\u5341\u30b5\u30f3\u30d7\u30eb\u3092\u542b\u3080\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3067\u306f\u30c6\u30e9\u30d0\u30a4\u30c8\u5358\u4f4d\u306e\u30b9\u30c8\u30ec\u30fc\u30b8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u3055\u3089\u306b\u3001HTS\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u306b\u306f\u3001\u8a08\u7b97\u91cf\u306e\u591a\u3044\u30b9\u30c6\u30c3\u30d7\u304c\u3042\u308b\uff08\u4f8b\uff1a\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\uff09\u3002\u3057\u304b\u3057\u3001HTS\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u306b\u5fc5\u8981\u306a\u30b9\u30c8\u30ec\u30fc\u30b8\u3068\u8a08\u7b97\u6a5f\u306e\u30a4\u30f3\u30d5\u30e9\u306f\u91cd\u8981\u306a\u691c\u8a0e\u4e8b\u9805\u3067\u3042\u308a\u3001\u3057\u3070\u3057\u3070\u898b\u843d\u3068\u3055\u308c\u305f\u308a\u3001\u8b70\u8ad6\u3055\u308c\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3002\u4e00\u4f8b\u3068\u3057\u3066\u3001\u6700\u8fd1\u306e\u5206\u6790\u306e\u4e00\u74b0\u3068\u3057\u3066\u3001\u30d5\u30a7\u30ce\u30e0\u30fb\u30ef\u30a4\u30c9\u30fb\u30a2\u30bd\u30b7\u30a8\u30fc\u30b7\u30e7\u30f3\u30fb\u30a2\u30ca\u30ea\u30b7\u30b9\uff08PheWAS\uff09\u3092\u5b9f\u884c\u3057\u3066\u3044\u308b\u6570\u5341\u306e\u767a\u8868\u8ad6\u6587\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u307e\u3057\u305f\u3002\u6700\u65b0\u306ePheWAS\u306f\u3001100\uff5e1,000\u500b\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3068\u8868\u73fe\u578b\u306e\u4e21\u65b9\u3092\u89e3\u6790\u3059\u308b\u305f\u3081\u3001\u91cd\u8981\u306a\u30c7\u30fc\u30bf\u30b9\u30c8\u30ec\u30fc\u30b8\u3068\u30b3\u30f3\u30d4\u30e5\u30fc\u30c6\u30a3\u30f3\u30b0\u30d1\u30ef\u30fc\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u6211\u3005\u304c\u30ec\u30d3\u30e5\u30fc\u3057\u305f\u8ad6\u6587\u306e\u4e2d\u306b\u306f\u3001PheWAS\u89e3\u6790\u306b\u5fc5\u8981\u306a\u30a4\u30f3\u30d5\u30e9\u306b\u3064\u3044\u3066\u30b3\u30e1\u30f3\u30c8\u3057\u305f\u3082\u306e\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u5f53\u7136\u306e\u3053\u3068\u306a\u304c\u3089\u3001\u79c1\u304c\u63a8\u5968\u3059\u308b\u306e\u306f\u3001\u76f4\u9762\u3059\u308b\u3067\u3042\u308d\u3046\u30b9\u30c8\u30ec\u30fc\u30b8\u3068\u30b3\u30f3\u30d4\u30e5\u30fc\u30c6\u30a3\u30f3\u30b0\u306e\u8981\u4ef6\u3092\u524d\u3082\u3063\u3066\u8a08\u753b\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3068\u5171\u6709\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/span><\/p>\n<p><strong>DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30c7\u30fc\u30bf\u306e\u89e3\u6790\u3067\u304a\u56f0\u308a\u3067\u3059\u304b\uff1f\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002 <a href=\"https:\/\/www.kolabtree.com\/find-an-expert\/subject\/bioinformatics?utm_source=Blog&amp;utm_medium=Post&amp;utm_campaign=DNASeqGuide\">freelance bioinformatics specialist<\/a> \u305d\u3057\u3066 <a href=\"https:\/\/www.kolabtree.com\/find-an-expert\/subject\/genomics\">\u30b2\u30ce\u30df\u30af\u30b9\u5c02\u9580\u5bb6<\/a> \u3092Kolabtree\u306b\u63b2\u8f09\u3057\u307e\u3057\u305f\u3002\u00a0<\/strong><\/p>","protected":false},"excerpt":{"rendered":"<p>Dr. Javier Quilez Oliete, an experienced freelance bioinformatics consultant on Kolabtree, provides a comprehensive guide to DNA sequencing data analysis, including tools and software used to read data.\u00a0 Introduction Deoxyribonucleic acid (DNA) is the molecule that carries most of the genetic information of an organism. (In some types of virus, genetic information is carried by ribonucleic acid (RNA).)\u00a0\u00a0Nucleotides (conventionally represented by the letters A, C, G or T) are the basic units of DNA molecules. Conceptually, DNA sequencing is the process of reading the nucleotides that comprise a DNA molecule (e.g. \u201cGCAAACCAAT\u201d is a 10-nucleotide DNA string). Current sequencing technologies produce millions of such DNA reads in a reasonable time<\/p>\n<div class=\"read-more\"><a href=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/\" title=\"\u7d9a\u304d\u3092\u8aad\u3080\">\u7d9a\u304d\u3092\u8aad\u3080<\/a><\/div>","protected":false},"author":12,"featured_media":7266,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[442,398,435],"tags":[755,754],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v20.1 (Yoast SEO v20.1) - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>A Step-By-Step Guide to DNA Sequencing Data Analysis<\/title>\n<meta name=\"description\" content=\"An expert guide to DNA sequencing data analysis, including tools used for reading raw data, trimming reads and quality control.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/\" \/>\n<meta property=\"og:locale\" content=\"ja_JP\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A Step-By-Step Guide to DNA Sequencing Data Analysis\" \/>\n<meta property=\"og:description\" content=\"An expert guide to DNA sequencing data analysis, including tools used for reading raw data, trimming reads and quality control.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.kolabtree.com\/blog\/ja\/a-step-by-step-guide-to-dna-sequencing-data-analysis\/\" \/>\n<meta property=\"og:site_name\" content=\"The Kolabtree Blog\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/kolabtree\" \/>\n<meta property=\"article:published_time\" content=\"2020-03-23T12:40:48+00:00\" \/>\n<meta property=\"article:modified_time\" 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