{"id":17629,"date":"2026-04-24T22:38:14","date_gmt":"2026-04-24T22:38:14","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?page_id=17629"},"modified":"2026-04-25T06:51:20","modified_gmt":"2026-04-25T06:51:20","slug":"%e3%82%a8%e3%82%af%e3%82%bd%e3%83%bc%e3%83%a0%e8%a7%a3%e6%9e%90","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/%e3%82%a8%e3%82%af%e3%82%bd%e3%83%bc%e3%83%a0%e8%a7%a3%e6%9e%90\/","title":{"rendered":"Easy\u907a\u4f1d\u89e3\u6790\uff08\u30a8\u30af\u30bd\u30fc\u30e0\uff09"},"content":{"rendered":"\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\">\u3042\u306a\u305f\u306e\u5168\u30a8\u30af\u30bd\u30f3\u9818\u57df\u3092\u3001\u624b\u8efd\u306b\u30c7\u30fc\u30bf\u5316\u3002\u5fc5\u8981\u304c\u3042\u308c\u3070\u89e3\u6790\u3057\u307e\u3059\u3002<\/h2>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"1024\" height=\"559\" src=\"\/gene\/wp-content\/uploads\/2026\/04\/image-3.jpg\" alt=\"\" class=\"wp-image-17649\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-3.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-3-300x164.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-3-768x419.jpg 768w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p><strong>\u982c\u7c98\u819c\u30b9\u30ef\u30d6\u306b\u3088\u308b\u300c\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790 \uff06 FASTQ\u30c7\u30fc\u30bf\u63d0\u4f9b\u300d\u30b5\u30fc\u30d3\u30b9<\/strong><\/p>\n\n\n\n<p>\u5f53\u30b5\u30fc\u30d3\u30b9\u306f\u3001\u304a\u5ba2\u69d8\u306eDNA\u306e\u3046\u3061\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b\u91cd\u8981\u306a\u9818\u57df\u3067\u3042\u308b\u300c\u30a8\u30af\u30bd\u30fc\u30e0\uff08\u5168\u30a8\u30af\u30bd\u30f3\u9818\u57df\uff09\u300d\u3092\u7db2\u7f85\u7684\u306b\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u3067\u89e3\u6790\u3057\u3001\u751f\u306e\u914d\u5217\u30c7\u30fc\u30bf\u3067\u3042\u308b<strong>FASTQ\u5f62\u5f0f<\/strong>\u3067\u3054\u63d0\u4f9b\u3059\u308b\u30b5\u30fc\u30d3\u30b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u6a5f\u95a2\u3067\u306e\u63a1\u8840\u306f\u4e0d\u8981\u3002\u3054\u81ea\u5b85\u3067\u5b8c\u7d50\u3059\u308b\u75db\u307f\u306e\u306a\u3044\u63a1\u53d6\u65b9\u6cd5\u3067\u3001\u3054\u81ea\u8eab\u306e\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u3092\u53d6\u5f97\u3057\u3066\u3044\u305f\u3060\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83e\uddec \u5f53\u30b5\u30fc\u30d3\u30b9\u306e\u7279\u5fb4<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75db\u307f\u306e\u306a\u3044\u624b\u8efd\u306a\u30b5\u30f3\u30d7\u30eb\u63a1\u53d6<\/strong> \u5c02\u7528\u306e\u30b9\u30ef\u30d6\uff08\u7dbf\u68d2\uff09\u3067\u982c\u306e\u5185\u5074\uff08\u982c\u7c98\u819c\uff09\u3092\u3053\u3059\u308b\u3060\u3051\u3002\u63a1\u8840\u306e\u5fc5\u8981\u304c\u306a\u304f\u3001\u3054\u81ea\u5b85\u3067\u7c21\u5358\u304b\u3064\u5b89\u5168\u306bDNA\u30b5\u30f3\u30d7\u30eb\u3092\u63a1\u53d6\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u54c1\u8cea\u306a\u751f\u30c7\u30fc\u30bf\uff08FASTQ\uff09\u306e\u63d0\u4f9b<\/strong> \u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u89e3\u6790\u306e\u30d9\u30fc\u30b9\u3068\u306a\u308b\u3001\u30b7\u30fc\u30b1\u30f3\u30b9\u751f\u30c7\u30fc\u30bf\uff08FASTQ\u30d5\u30a1\u30a4\u30eb\uff09\u3092\u76f4\u63a5\u3054\u63d0\u4f9b\u3057\u307e\u3059\u3002\u3054\u81ea\u8eab\u306e\u7814\u7a76\u3001\u72ec\u81ea\u306e\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\u3067\u306e\u89e3\u6790\u3001\u5c06\u6765\u306e\u6280\u8853\u767a\u5c55\u306b\u5099\u3048\u305f\u30c7\u30fc\u30bf\u306e\u81ea\u5df1\u7ba1\u7406\u306b\u6700\u9069\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b9\u30e0\u30fc\u30ba\u306a\u30aa\u30f3\u30e9\u30a4\u30f3\u7d0d\u54c1<\/strong> \u89e3\u6790\u5b8c\u4e86\u5f8c\u3001\u30bb\u30ad\u30e5\u30a2\u306a\u5c02\u7528\u30b5\u30fc\u30d0\u30fc\u3088\u308a\u30c7\u30fc\u30bf\u3092\u76f4\u63a5\u30c0\u30a6\u30f3\u30ed\u30fc\u30c9\u3057\u3066\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u7269\u7406\u7684\u306a\u30e1\u30c7\u30a3\u30a2\u306e\u3084\u308a\u53d6\u308a\u306b\u3088\u308b\u30bf\u30a4\u30e0\u30ed\u30b9\u3084\u7d1b\u5931\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u7d0d\u671f\uff08TAT: \u7d04\uff12\u30f6\u6708\uff09<\/strong> \u30b5\u30f3\u30d7\u30eb\u304c\u5f53\u65bd\u8a2d\u306b\u5230\u7740\u3057\u3066\u304b\u3089\u3001**\u7d04\uff12\u30f6\u6708\uff08\u30bf\u30fc\u30f3\u30a2\u30e9\u30a6\u30f3\u30c9\u30bf\u30a4\u30e0\uff09**\u3067\u30c7\u30fc\u30bf\u306e\u6e96\u5099\u304c\u5b8c\u4e86\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udd04 \u30b5\u30fc\u30d3\u30b9\u306e\u3054\u5229\u7528\u306e\u6d41\u308c<\/h3>\n\n\n\n<p><strong>STEP 1\uff1a\u304a\u7533\u3057\u8fbc\u307f\u30fb\u30ad\u30c3\u30c8\u306e\u53d7\u3051\u53d6\u308a<\/strong> \u5f53\u30a6\u30a7\u30d6\u30b5\u30a4\u30c8\u3088\u308a\u3054\u6ce8\u6587\u304f\u3060\u3055\u3044\u3002\u6570\u65e5\u4ee5\u5185\u306b\u3001\u3054\u6307\u5b9a\u306e\u4f4f\u6240\u3078\u300cDNA\u63a1\u53d6\u30ad\u30c3\u30c8\uff08\u30b9\u30ef\u30d6\uff09\u300d\u3092\u304a\u5c4a\u3051\u3044\u305f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>STEP 2\uff1a\u30b5\u30f3\u30d7\u30eb\u306e\u63a1\u53d6<\/strong> \u30ad\u30c3\u30c8\u306b\u540c\u68b1\u3055\u308c\u3066\u3044\u308b\u8aac\u660e\u66f8\u306b\u5f93\u3044\u3001\u982c\u7c98\u819c\u3092\u30b9\u30ef\u30d6\u3067\u63a1\u53d6\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u6240\u8981\u6642\u9593\u306f\u307b\u3093\u306e\u6570\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>STEP 3\uff1a\u30b5\u30f3\u30d7\u30eb\u306e\u3054\u8fd4\u9001<\/strong> \u63a1\u53d6\u6e08\u307f\u306e\u30b5\u30f3\u30d7\u30eb\u3092\u8fd4\u4fe1\u7528\u5c01\u7b52\u306b\u5165\u308c\u3001\u30dd\u30b9\u30c8\u3078\u6295\u51fd\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>STEP 4\uff1a\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08\u7d041\u30f6\u6708\uff09<\/strong> \u30b5\u30f3\u30d7\u30eb\u5230\u7740\u5f8c\u3001\u5c02\u9580\u65bd\u8a2d\u306b\u3066DNA\u306e\u62bd\u51fa\u304a\u3088\u3073\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306b\u3088\u308b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>STEP 5\uff1a\u30c7\u30fc\u30bf\u306e\u30c0\u30a6\u30f3\u30ed\u30fc\u30c9<\/strong> \u89e3\u6790\u304c\u5b8c\u4e86\u3057\u307e\u3057\u305f\u3089\u3001\u3054\u767b\u9332\u306e\u30e1\u30fc\u30eb\u30a2\u30c9\u30ec\u30b9\u306b\u30c0\u30a6\u30f3\u30ed\u30fc\u30c9\u30ea\u30f3\u30af\u3068\u30a2\u30af\u30bb\u30b9\u624b\u9806\u3092\u3054\u6848\u5185\u3057\u307e\u3059\u3002\u304a\u597d\u304d\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067FASTQ\u30c7\u30fc\u30bf\u3092\u30c0\u30a6\u30f3\u30ed\u30fc\u30c9\u3057\u3066\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u305f\u3060\u3057\u4fdd\u7ba1\u671f\u9593\u306f\uff11\u30f6\u6708\u3067\u3059\u3002\uff11\u30f6\u6708\u3092\u8d85\u3048\u305f\u6642\u70b9\u3067\u30c7\u30fc\u30bf\u306f\u524a\u9664\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">\u26a0\ufe0f \u3054\u5229\u7528\u306b\u3042\u305f\u3063\u3066\u306e\u91cd\u8981\u306a\u6ce8\u610f\u4e8b\u9805<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u672c\u30b5\u30fc\u30d3\u30b9\u306f\u300c\u30c7\u30fc\u30bf\uff08FASTQ\u5f62\u5f0f\uff09\u300d\u306e\u63d0\u4f9b\u306e\u307f\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u75be\u60a3\u30ea\u30b9\u30af\u306e\u5224\u5b9a\u3001\u7956\u5148\u30eb\u30fc\u30c4\u306e\u89e3\u6790\u3001\u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u6ce8\u91c8\u4ed8\u3051\u306a\u3069\u306e\u300c\u89e3\u6790\u30ec\u30dd\u30fc\u30c8\u300d\u306f\u4ed8\u5c5e\u3057\u3066\u304a\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3054\u63d0\u4f9b\u3059\u308bFASTQ\u30c7\u30fc\u30bf\u3092\u6d3b\u7528\u30fb\u89e3\u91c8\u3059\u308b\u306b\u306f\u3001\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u306e\u5c02\u9580\u77e5\u8b58\u3084\u5c02\u7528\u306e\u89e3\u6790\u74b0\u5883\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><strong>\u3054\u4e0d\u660e\u306a\u70b9\u304c\u3054\u3056\u3044\u307e\u3057\u305f\u3089\u3001\u304a\u6c17\u8efd\u306b[\u304a\u554f\u3044\u5408\u308f\u305b\u30d5\u30a9\u30fc\u30e0\/\u30ea\u30f3\u30af]\u3088\u308a\u3054\u9023\u7d61\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n\n<p><strong>FASTQ\uff08\u30d5\u30a1\u30b9\u30c8\u30ad\u30e5\u30fc\uff09\u30c7\u30fc\u30bf<\/strong>\u3068\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u3068\u3044\u3046DNA\u89e3\u6790\u88c5\u7f6e\u304b\u3089\u76f4\u63a5\u51fa\u529b\u3055\u308c\u308b\u3001**\u300c\u751f\u306eDNA\u914d\u5217\u300d<strong>\u3068<\/strong>\u300c\u8aad\u307f\u53d6\u308a\u306e\u54c1\u8cea\uff08\u6b63\u78ba\u3055\uff09\u300d**\u3092\u30bb\u30c3\u30c8\u3067\u8a18\u9332\u3057\u305f\u30c6\u30ad\u30b9\u30c8\u30c7\u30fc\u30bf\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"1024\" height=\"559\" src=\"\/gene\/wp-content\/uploads\/2026\/04\/image-1.jpg\" alt=\"\" class=\"wp-image-17641\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-1.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-1-300x164.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-1-768x419.jpg 768w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\uff08\u751f\u547d\u60c5\u5831\u79d1\u5b66\uff09\u306e\u4e16\u754c\u3067\u306f\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u306e\u6700\u3082\u30d9\u30fc\u30b9\u3068\u306a\u308b\u300c\u5927\u5143\u306e\u751f\u30c7\u30fc\u30bf\u300d\u3068\u3057\u3066\u6a19\u6e96\u7684\u306b\u6271\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83e\uddec FASTQ\u30c7\u30fc\u30bf\u306e\u69cb\u9020\uff084\u884c1\u30bb\u30c3\u30c8\uff09<\/h3>\n\n\n\n<p>FASTQ\u30d5\u30a1\u30a4\u30eb\u306e\u4e2d\u8eab\u306f\u30c6\u30ad\u30b9\u30c8\uff08\u6587\u5b57\uff09\u306e\u7f85\u5217\u3067\u3059\u30021\u3064\u306eDNA\u306e\u65ad\u7247\uff08\u30ea\u30fc\u30c9\u3068\u547c\u3073\u307e\u3059\uff09\u306e\u30c7\u30fc\u30bf\u304c\u3001\u5fc5\u305a\u4ee5\u4e0b\u306e<strong>4\u884c1\u30bb\u30c3\u30c8<\/strong>\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>Plaintext<\/p>\n\n\n\n<pre class=\"wp-block-code\"><code>@SEQ_ID_001\nGATTTGGGGTTCAAAGCAGTATCGATCAAATAGTAAATCCATTTGTTCAACTCACAGTTT\n+\n!''*((((***+))%%%++)(%%%%).1***-+*''))**55CCF&gt;&gt;&gt;&gt;&gt;&gt;CCCCCCC65\n<\/code><\/pre>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>1\u884c\u76ee\uff08ID\uff09:<\/strong> <code>@<\/code>\uff08\u30a2\u30c3\u30c8\u30de\u30fc\u30af\uff09\u304b\u3089\u59cb\u307e\u308a\u3001\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306e\u6a5f\u5668\u756a\u53f7\u3084\u914d\u5217\u306e\u8b58\u5225ID\u306a\u3069\u304c\u66f8\u304b\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>2\u884c\u76ee\uff08\u5869\u57fa\u914d\u5217\uff09:<\/strong> \u6a5f\u68b0\u304c\u5b9f\u969b\u306b\u8aad\u307f\u53d6\u3063\u305fDNA\u306e\u914d\u5217\u3067\u3059\u3002A\uff08\u30a2\u30c7\u30cb\u30f3\uff09\u3001T\uff08\u30c1\u30df\u30f3\uff09\u3001C\uff08\u30b7\u30c8\u30b7\u30f3\uff09\u3001G\uff08\u30b0\u30a2\u30cb\u30f3\uff09\u306e4\u6587\u5b57\uff08\u4e0d\u660e\u306a\u5834\u5408\u306fN\uff09\u3067\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>3\u884c\u76ee\uff08\u533a\u5207\u308a\uff09:<\/strong> <code>+<\/code>\uff08\u30d7\u30e9\u30b9\uff09\u8a18\u53f7\u304c\u5165\u308a\u30012\u884c\u76ee\u30684\u884c\u76ee\u3092\u533a\u5207\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>4\u884c\u76ee\uff08\u54c1\u8cea\u30b9\u30b3\u30a2\uff09:<\/strong> 2\u884c\u76ee\u3067\u8aad\u307f\u53d6\u3063\u305f**\u305d\u308c\u305e\u308c\u306e\u5869\u57fa\uff08A, T, C, G\uff09\u306b\u5bfe\u3059\u308b\u300c\u81ea\u4fe1\u306e\u5ea6\u5408\u3044\uff08Phred\u30b9\u30b3\u30a2\uff09\u300d**\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udcca \u306a\u305c\u300c\u54c1\u8cea\u30b9\u30b3\u30a2\u300d\u304c\u6697\u53f7\u306e\u3088\u3046\u306a\u8a18\u53f7\u306a\u306e\u304b\uff1f<\/h3>\n\n\n\n<p>4\u884c\u76ee\u306e <code>!''*((((***+...<\/code> \u3068\u3044\u3046\u8a18\u53f7\u306e\u7f85\u5217\u306f\u3001\u6587\u5b57\u5316\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306f\u6570\u5104\u500b\u306eDNA\u65ad\u7247\u3092\u9ad8\u901f\u3067\u8aad\u307f\u53d6\u308a\u307e\u3059\u304c\u3001\u3054\u304f\u7a00\u306b\u8aad\u307f\u53d6\u308a\u30a8\u30e9\u30fc\uff08A\u3092T\u3068\u8aad\u307f\u9055\u3048\u308b\u306a\u3069\uff09\u3092\u8d77\u3053\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u300c\u3053\u306eA\u306f99.9%\u306e\u78ba\u7387\u3067\u6b63\u3057\u3044\u300d\u300c\u3053\u306eG\u306f\u5c11\u3057\u81ea\u4fe1\u304c\u306a\u3044\u300d\u3068\u3044\u3046\u54c1\u8cea\uff08\u78ba\u5ea6\uff09\u3092\u6570\u5b57\u3067\u8a18\u9332\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u6570\u5b57\uff08\u4f8b\uff1a99.9%\u3084\u3001\u30b9\u30b3\u30a230\u306a\u3069\uff09\u3092\u305d\u306e\u307e\u307e\u66f8\u304d\u8fbc\u3080\u3068\u30c7\u30fc\u30bf\u5bb9\u91cf\u304c\u81a8\u5927\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc\u4e0a\u30671\u6587\u5b57\u5206\u306e\u5bb9\u91cf\u3067\u6e08\u3080**\u300cASCII\uff08\u30a2\u30b9\u30ad\u30fc\uff09\u6587\u5b57\u300d\u3068\u547c\u3070\u308c\u308b\u8a18\u53f7\u3084\u30a2\u30eb\u30d5\u30a1\u30d9\u30c3\u30c8\u306b\u5909\u63db\u3057\u3066\u8a18\u9332**\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\uddfa\ufe0f \u907a\u4f1d\u5b50\u89e3\u6790\u306e\u6d41\u308c\u306b\u304a\u3051\u308bFASTQ\u306e\u7acb\u3061\u4f4d\u7f6e<\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u89e3\u6790\u306f\u3001\u4e00\u822c\u7684\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30b9\u30c6\u30c3\u30d7\u3067\u9032\u307f\u307e\u3059\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>DNA\u63a1\u53d6\u30fb\u62bd\u51fa<\/strong>\uff08\u30b9\u30ef\u30d6\u306a\u3069\u3067\u63a1\u53d6\uff09<\/li>\n\n\n\n<li><strong>\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790<\/strong>\uff08\u6a5f\u68b0\u3067DNA\u3092\u8aad\u307f\u53d6\u308b\uff09<\/li>\n\n\n\n<li><strong>\u3010FASTQ\u30d5\u30a1\u30a4\u30eb\u306e\u751f\u6210\u3011 \u25c0\ufe0e \u4eca\u56de\u63d0\u4f9b\u3059\u308b\u30c7\u30fc\u30bf\u306f\u30b3\u30b3<\/strong><\/li>\n\n\n\n<li><strong>\u30de\u30c3\u30d4\u30f3\u30b0\uff08BAM\/SAM\u30d5\u30a1\u30a4\u30eb\uff09<\/strong>\uff08\u8aad\u3093\u3060\u65ad\u7247\u3092\u3001\u4eba\u9593\u306e\u6a19\u6e96\u30b2\u30ce\u30e0\u306e\u300c\u3069\u3053\u306b\u5f53\u3066\u306f\u307e\u308b\u304b\u300d\u30d1\u30ba\u30eb\u306e\u3088\u3046\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3059\u308b\uff09<\/li>\n\n\n\n<li><strong>\u5909\u7570\u30b3\u30fc\u30eb\uff08VCF\u30d5\u30a1\u30a4\u30eb\uff09<\/strong>\uff08\u6a19\u6e96\u30b2\u30ce\u30e0\u3068\u9055\u3046\u90e8\u5206\uff1d\u5909\u7570\u3092\u30ea\u30b9\u30c8\u30a2\u30c3\u30d7\u3059\u308b\uff09<\/li>\n<\/ol>\n\n\n\n<p>\u304a\u5ba2\u69d8\u306bFASTQ\u30c7\u30fc\u30bf\u3092\u63d0\u4f9b\u3059\u308b\u3068\u3044\u3046\u3053\u3068\u306f\u3001**\u300c\u8ab0\u306e\u624b\u3082\u52a0\u308f\u3063\u3066\u3044\u306a\u3044\u3001\u6a5f\u68b0\u304c\u8aad\u307f\u53d6\u3063\u305f\u307e\u307e\u306e\u4e00\u756a\u30d4\u30e5\u30a2\u306a\u72b6\u614b\u306e\u30c7\u30fc\u30bf\u3092\u304a\u6e21\u3057\u3059\u308b\u300d**\u3068\u3044\u3046\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u7814\u7a76\u8005\u306a\u3069\u306f\u81ea\u8eab\u306e\u76ee\u7684\u306b\u5408\u308f\u305b\u305f\u5c02\u7528\u306e\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\uff08\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\uff09\u3092\u4f7f\u3063\u3066\u3001\u3053\u306eFASTQ\u30c7\u30fc\u30bf\u304b\u3089\u81ea\u7531\u306b\u60c5\u5831\u3092\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">FASTQ\u30c7\u30fc\u30bf\u3092\u3069\u3046\u6d3b\u7528\u3059\u308b\u3002<\/h2>\n\n\n\n<p>\ud83d\udcbb FASTQ\u30c7\u30fc\u30bf\u3092\u60c5\u5831\u306b\u5909\u63db\u3059\u308b\u30b9\u30c6\u30c3\u30d7\uff08\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\uff09<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u54c1\u8cea\u7ba1\u7406\u3068\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08QC: Quality Control\uff09<\/strong> FASTQ\u30c7\u30fc\u30bf\uff084\u884c\u76ee\u306e\u54c1\u8cea\u30b9\u30b3\u30a2\uff09\u3092\u53c2\u7167\u3057\u3001\u300c\u8aad\u307f\u53d6\u308a\u7cbe\u5ea6\u304c\u4f4e\u3044\u90e8\u5206\u300d\u3084\u300c\u89e3\u6790\u306b\u4e0d\u8981\u306a\u914d\u5217\uff08\u30a2\u30c0\u30d7\u30bf\u30fc\u914d\u5217\u306a\u3069\uff09\u300d\u3092\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u3067\u5207\u308a\u843d\u3068\u3057\u3001\u7dba\u9e97\u306a\u30c7\u30fc\u30bf\u306b\u6574\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30c3\u30d4\u30f3\u30b0\uff08\u30a2\u30e9\u30a4\u30e1\u30f3\u30c8\uff09<\/strong> \u30d0\u30e9\u30d0\u30e9\u306eDNA\u65ad\u7247\uff08\u30d1\u30ba\u30eb\u306e\u30d4\u30fc\u30b9\uff09\u3092\u3001\u4eba\u985e\u306e\u300c\u6a19\u6e96\u30b2\u30ce\u30e0\u914d\u5217\uff08\u5b8c\u6210\u56f3\uff09\u300d\u306b\u7167\u3089\u3057\u5408\u308f\u305b\u3066\u3001\u30b2\u30ce\u30e0\u4e0a\u306e\u3069\u306e\u90e8\u5206\u306e\u914d\u5217\u306a\u306e\u304b\u3092\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc\u4e0a\u3067\u8cbc\u308a\u4ed8\u3051\u3066\u3044\u304d\u307e\u3059\u3002\u3053\u3053\u3067<strong>BAM<\/strong>\u3084<strong>SAM<\/strong>\u3068\u547c\u3070\u308c\u308b\u30d5\u30a1\u30a4\u30eb\u5f62\u5f0f\u306b\u5909\u63db\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5909\u7570\u306e\u691c\u51fa\uff08\u30d0\u30ea\u30a2\u30f3\u30c8\u30b3\u30fc\u30eb\uff09<\/strong> \u6a19\u6e96\u30b2\u30ce\u30e0\u3068\u3001\u30de\u30c3\u30d4\u30f3\u30b0\u3055\u308c\u305f\u304a\u5ba2\u69d8\u306e\u30b2\u30ce\u30e0\u3092\u6bd4\u8f03\u3057\u3001\u300c\u3069\u3053\u304c\u3069\u3046\u9055\u3063\u3066\u3044\u308b\u304b\uff08\u5909\u7570\uff09\u300d\u3092\u898b\u3064\u3051\u51fa\u3057\u307e\u3059\u3002\u3053\u3053\u3067<strong>VCF<\/strong>\u3068\u3044\u3046\u30d5\u30a1\u30a4\u30eb\u5f62\u5f0f\u306b\u306a\u308a\u3001\u3088\u3046\u3084\u304f\u300c\u304a\u5ba2\u69d8\u56fa\u6709\u306e\u907a\u4f1d\u7684\u7279\u5fb4\u306e\u30ea\u30b9\u30c8\u300d\u304c\u5b8c\u6210\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u610f\u5473\u3065\u3051\uff08\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong> \u898b\u3064\u304b\u3063\u305f\u5909\u7570\u304c\u3001\u300c\u3069\u306e\u3088\u3046\u306a\u4f53\u8cea\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u306e\u304b\u300d\u300c\u7279\u5b9a\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u3069\u3046\u5f71\u97ff\u3059\u308b\u306e\u304b\u300d\u3092\u3001\u4e16\u754c\u4e2d\u306e\u5b66\u8853\u7684\u306a\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3068\u7167\u3089\u3057\u5408\u308f\u305b\u3066\u89e3\u91c8\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"1024\" height=\"559\" src=\"\/gene\/wp-content\/uploads\/2026\/04\/image-2.jpg\" alt=\"\" class=\"wp-image-17643\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-2.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-2-300x164.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/04\/image-2-768x419.jpg 768w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udc64 \u5b9f\u969b\u306bFASTQ\u30c7\u30fc\u30bf\u3092\u53d7\u3051\u53d6\u3063\u305f\u4eba\u306f\u3069\u3046\u4f7f\u3046\u306e\u304b\uff1f<\/h3>\n\n\n\n<p>\u5f53\u30b5\u30fc\u30d3\u30b9\u3067FASTQ\u30c7\u30fc\u30bf\u3092\u53d7\u3051\u53d6\u3063\u305f\u304a\u5ba2\u69d8\u306f\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u76ee\u7684\u3067\u6d3b\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u60f3\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7814\u7a76\u30fb\u958b\u767a\u76ee\u7684\uff08\u30d7\u30ed\u30fb\u7814\u7a76\u8005\u5411\u3051\uff09<\/strong> \u5927\u5b66\u306e\u7814\u7a76\u8005\u3084\u4f01\u696d\u306e\u30a8\u30f3\u30b8\u30cb\u30a2\u304c\u3001\u81ea\u4f5c\u306e\u89e3\u6790\u30a2\u30eb\u30b4\u30ea\u30ba\u30e0\u3092\u691c\u8a3c\u3057\u305f\u308a\u3001\u65e2\u5b58\u306e\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\u306b\u6d41\u3057\u8fbc\u3093\u3067\u72ec\u81ea\u306e\u907a\u4f1d\u5b50\u7814\u7a76\u3092\u884c\u3046\u305f\u3081\u306e\u300c\u30d4\u30e5\u30a2\u306a\u57fa\u790e\u30c7\u30fc\u30bf\u300d\u3068\u3057\u3066\u5229\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u500b\u4eba\u3067\u306e\u30c7\u30fc\u30bf\u89e3\u6790\u30fb\u30b5\u30fc\u30c9\u30d1\u30fc\u30c6\u30a3\u30b5\u30fc\u30d3\u30b9\u306e\u5229\u7528\uff08IT\u6280\u8853\u8005\u30fbDIY\u30d0\u30a4\u30aa\u5411\u3051\uff09<\/strong> \u30d7\u30ed\u30b0\u30e9\u30df\u30f3\u30b0\u77e5\u8b58\u304c\u3042\u308b\u65b9\u3084\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u3092\u5b66\u3076\u5b66\u751f\u306a\u3069\u306f\u3001\u30af\u30e9\u30a6\u30c9\u74b0\u5883\u3084\u30cf\u30a4\u30b9\u30da\u30c3\u30afPC\u3092\u7528\u3044\u3066\u30aa\u30fc\u30d7\u30f3\u30bd\u30fc\u30b9\u306e\u30c4\u30fc\u30eb\uff08BWA\u3001GATK\u306a\u3069\uff09\u3092\u52d5\u304b\u3057\u3001\u3054\u81ea\u8eab\u3067VCF\u30d5\u30a1\u30a4\u30eb\u3078\u306e\u5909\u63db\u3092\u884c\u3044\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001\u5916\u90e8\u306e\u907a\u4f1d\u5b50\u89e3\u91c8\u30b5\u30fc\u30d3\u30b9\u306b\u30c7\u30fc\u30bf\u3092\u8aad\u307f\u8fbc\u307e\u305b\u3066\u3001\u81ea\u5206\u306e\u4f53\u8cea\u306a\u3069\u3092\u72ec\u81ea\u306b\u8abf\u3079\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c06\u6765\u306e\u6280\u8853\u767a\u5c55\u306b\u5411\u3051\u305f\u300c\u751f\u30c7\u30fc\u30bf\u8cc7\u7523\u306e\u4fdd\u7ba1\u300d<\/strong> \u907a\u4f1d\u5b50\u3092\u89e3\u91c8\u3059\u308b\u6280\u8853\u3084\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306f\u65e5\u3005\u9032\u5316\u3057\u3066\u3044\u307e\u3059\u3002\u6570\u5e74\u5f8c\u306b\u306f\u3001\u4eca\u306f\u308f\u304b\u3089\u306a\u304b\u3063\u305f\u65b0\u3057\u3044\u767a\u898b\u304c\u3054\u81ea\u8eab\u306e\u30c7\u30fc\u30bf\u304b\u3089\u5f15\u304d\u51fa\u305b\u308b\u3088\u3046\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u89e3\u91c8\u6e08\u307f\u306ePDF\u30ec\u30dd\u30fc\u30c8\u3060\u3051\u3067\u306a\u304f\u3001\u300c\u4e00\u751f\u5909\u308f\u3089\u306a\u3044\u81ea\u5206\u81ea\u8eab\u306e\u751f\u30c7\u30fc\u30bf\uff08FASTQ\uff09\u300d\u3092\u624b\u5143\u306b\u4fdd\u6709\u3057\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u5c06\u6765\u767b\u5834\u3059\u308b\u672a\u77e5\u306e\u89e3\u6790\u30b5\u30fc\u30d3\u30b9\u306b\u3044\u3064\u3067\u3082\u5bfe\u5fdc\u3067\u304d\u308b\u72b6\u614b\u306b\u3057\u3066\u304a\u304f\u3001\u3068\u3044\u3046\u7a76\u6975\u306e\u30c7\u30fc\u30bf\u6240\u6709\u306e\u5f62\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001FASTQ\u30c7\u30fc\u30bf\u306f\u300c\u53ef\u80fd\u6027\u306e\u584a\u300d\u3067\u3059\u304c\u3001\u76f4\u63a5\u7684\u306a\u6069\u6075\u3092\u5f97\u308b\u306b\u306f\u30c7\u30fc\u30bf\u306e\u52a0\u5de5\u3068\u89e3\u91c8\u306e\u30b9\u30c6\u30c3\u30d7\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<br><\/p>\n\n\n\n<p>\u6599\u91d1\u30d7\u30e9\u30f3\uff08\u4fa1\u683c\u8868\uff09<\/p>\n\n\n\n<p>\u304a\u5ba2\u69d8\u306e\u3054\u8981\u671b\u306b\u5408\u308f\u305b\u3066\u3001\u751f\u30c7\u30fc\u30bf\u306e\u63d0\u4f9b\u304b\u3089\u9ad8\u5ea6\u306a\u89e3\u6790\u307e\u3067\u3001\u6bb5\u968e\u7684\u306a\u30d7\u30e9\u30f3\u3092\u3054\u7528\u610f\u3057\u3066\u304a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u203b\u8868\u793a\u4fa1\u683c\u306f\u3059\u3079\u3066<strong>\u7a0e\u629c\u304d<\/strong>\u4fa1\u683c\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">1. \u57fa\u672c\u30b5\u30fc\u30d3\u30b9\uff08\u30c7\u30fc\u30bf\u53d6\u5f97\uff09<\/h3>\n\n\n\n<p>\u307e\u305a\u306f\u81ea\u5206\u306e\u751f\u30c7\u30fc\u30bf\u3092\u4fdd\u6709\u3057\u305f\u3044\u65b9\u3001\u3054\u81ea\u8eab\u3067\u89e3\u6790\u74b0\u5883\u3092\u304a\u6301\u3061\u306e\u65b9\u5411\u3051\u306e\u57fa\u672c\u30d7\u30e9\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><td><strong>\u30b5\u30fc\u30d3\u30b9\u540d<\/strong><\/td><td><strong>\u5185\u5bb9<\/strong><\/td><td><strong>\u4fa1\u683c\uff08\u7a0e\u629c\uff09<\/strong><\/td><\/tr><\/thead><tbody><tr><td><strong>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790<\/strong><\/td><td>\u982c\u7c98\u819c\u30b9\u30ef\u30d6\u306b\u3088\u308bDNA\u63a1\u53d6\u30fb\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u3001<strong>FASTQ\u5f62\u5f0f<\/strong>\u3067\u306e\u30c7\u30fc\u30bf\u7d0d\u54c1<\/td><td><strong>9,800\u5186<\/strong><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">2. \u30c7\u30fc\u30bf\u52a0\u5de5\u30aa\u30d7\u30b7\u30e7\u30f3<\/h3>\n\n\n\n<p>FASTQ\u30c7\u30fc\u30bf\u3092\u3001\u4e00\u822c\u7684\u306a\u89e3\u6790\u30bd\u30d5\u30c8\u3067\u6271\u3044\u3084\u3059\u3044\u5f62\u5f0f\u306b\u5909\u63db\u3059\u308b\u30b5\u30fc\u30d3\u30b9\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><td><strong>\u30b5\u30fc\u30d3\u30b9\u540d<\/strong><\/td><td><strong>\u5185\u5bb9<\/strong><\/td><td><strong>\u4fa1\u683c\uff08\u7a0e\u629c\uff09<\/strong><\/td><\/tr><\/thead><tbody><tr><td><strong>\u30de\u30c3\u30d4\u30f3\u30b0\u51e6\u7406<\/strong><\/td><td>FASTQ\u304b\u3089<strong>BAM\/SAM\u5f62\u5f0f<\/strong>\u3078\u306e\u5909\u63db\uff08\u6a19\u6e96\u30b2\u30ce\u30e0\u3078\u306e\u7d10\u4ed8\u3051\uff09<\/td><td><strong>+ 5,000\u5186<\/strong><\/td><\/tr><tr><td><strong>\u30d0\u30ea\u30a2\u30f3\u30c8\u30b3\u30fc\u30eb<\/strong><\/td><td>FASTQ\u304b\u3089<strong>VCF\u5f62\u5f0f<\/strong>\u3078\u306e\u5909\u63db\uff08\u5909\u7570\u7b87\u6240\u306e\u7279\u5b9a\uff09<\/td><td><strong>+ 10,000\u5186<\/strong><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\">3. \u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u5909\u7570\u306e\u89e3\u91c8\u30fb\u610f\u5473\u4ed8\u3051\uff09<\/h3>\n\n\n\n<p>\u691c\u51fa\u3055\u308c\u305f\u5909\u7570\u304c\u3001\u3069\u306e\u3088\u3046\u306a\u75be\u60a3\u3084\u4f53\u8cea\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u304b\u3092\u8abf\u67fb\u30fb\u30ec\u30dd\u30fc\u30c8\u3059\u308b\u9ad8\u5ea6\u306a\u89e3\u6790\u30aa\u30d7\u30b7\u30e7\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><td><strong>\u30b5\u30fc\u30d3\u30b9\u540d<\/strong><\/td><td><strong>\u5185\u5bb9<\/strong><\/td><td><strong>\u4fa1\u683c\uff08\u7a0e\u629c\uff09<\/strong><\/td><\/tr><\/thead><tbody><tr><td><strong>\u521d\u671f\u8cbb\u7528<\/strong><\/td><td>VCF\u5f62\u5f0f\u304b\u3089\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u7167\u5408\u304a\u3088\u3073\u89e3\u6790<\/td><td><strong>20,000\u5186<\/strong><\/td><\/tr><tr><td><strong>\u907a\u4f1d\u5b50\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/td><td>\u6307\u5b9a\u3055\u308c\u305f\u907a\u4f1d\u5b50\uff081\u907a\u4f1d\u5b50\u306b\u3064\u304d\uff09\u306e\u5909\u7570\u89e3\u91c8<\/td><td><strong>3,000\u5186 \/ 1\u907a\u4f1d\u5b50<\/strong><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u907a\u4f1d\u5b50\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30f3\u30b0\u30001\u6642\u9593\uff13\u4e07\u5186\uff08\u7a0e\u629c\uff09<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udca1 \u304a\u898b\u7a4d\u308a\u4f8b<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u300c\u307e\u305a\u306f\u751f\u306e\u30c7\u30fc\u30bf\u3060\u3051\u624b\u5143\u306b\u6301\u3063\u3066\u304a\u304d\u305f\u3044\u300d\u5834\u5408<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08FASTQ\uff09\uff1a<strong>9,800\u5186<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u300c\u5909\u7570\u30ea\u30b9\u30c8\uff08VCF\uff09\u307e\u3067\u4f5c\u6210\u3057\u3066\u307b\u3057\u3044\u300d\u5834\u5408<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff0bVCF\u5909\u63db\uff1a<strong>19,800\u5186<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u300c\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\uff08\u4f8b\uff1aBRCA1\uff09\u306b\u3069\u3093\u306a\u5909\u7570\u304c\u3042\u308b\u304b\u77e5\u308a\u305f\u3044\u300d\u5834\u5408<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff0bVCF\u5909\u63db\uff0b\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\u521d\u671f\u8cbb\u7528\uff0b1\u907a\u4f1d\u5b50\u6307\u5b9a\uff1a<strong>42,800\u5186<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4f7f\u7528\u3059\u308b\u89e3\u6790\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83c\udf0d \u96c6\u56e3\u30a2\u30ec\u30eb\u983b\u5ea6\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9 (Population Frequencies)<\/h3>\n\n\n\n<p>\u5065\u5e38\u8005\u3084\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3044\u3066\u3001\u305d\u306e\u5909\u7570\u304c\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u5b58\u5728\u3059\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>gnomAD<\/strong> (Exomes, Genomes, Structural Variants \u306a\u3069)\u21b3<\/li>\n\n\n\n<li><strong>1000 Genomes Project<\/strong><\/li>\n\n\n\n<li><strong>dbSNP<\/strong><\/li>\n\n\n\n<li><strong>ExAC<\/strong> (Exome Aggregation Consortium)\u21b3<\/li>\n\n\n\n<li><strong>TopMed<\/strong><\/li>\n\n\n\n<li><strong>Kaviar<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83c\udfe5 \u75be\u60a3\u30fb\u81e8\u5e8a\u7684\u610f\u7fa9\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9 (Clinical &amp; Pathogenicity)<\/h3>\n\n\n\n<p>\u5909\u7570\u3068\u907a\u4f1d\u6027\u75be\u60a3\u306a\u3069\u306e\u95a2\u9023\u6027\u3001\u304a\u3088\u3073\u904e\u53bb\u306e\u75c5\u7684\u610f\u7fa9\u306e\u5206\u985e\u3092\u307e\u3068\u3081\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ClinVar<\/strong> (NCBI\u304c\u904b\u55b6\u3059\u308b\u81e8\u5e8a\u7684\u5909\u7570\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)<\/li>\n\n\n\n<li><strong>OMIM<\/strong> (Online Mendelian Inheritance in Man\uff1a\u907a\u4f1d\u6027\u75be\u60a3\u3068\u907a\u4f1d\u5b50\u306e\u30ab\u30bf\u30ed\u30b0)<\/li>\n\n\n\n<li><strong>dbNSFP<\/strong> (\u30d2\u30c8\u975e\u540c\u7fa9\u5909\u7570\u306e\u305f\u3081\u306e\u7d71\u5408\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)<\/li>\n\n\n\n<li><strong>LOVD<\/strong> (Leiden Open Variation Database)\u21b3<\/li>\n\n\n\n<li><strong>Orphanet<\/strong> (\u5e0c\u5c11\u75be\u60a3\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)<\/li>\n\n\n\n<li><strong>HGMD<\/strong> (Human Gene Mutation Database) \u203b<em>\u30d7\u30ed\u7248\u306e\u5229\u7528\u306b\u306f\u5225\u9014\u30e9\u30a4\u30bb\u30f3\u30b9\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/em><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83e\uddec \u304c\u3093\u95a2\u9023\u30fb\u4f53\u7d30\u80de\u5909\u7570\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9 (Oncology \/ Somatic)<\/h3>\n\n\n\n<p>\u304c\u3093\u30b2\u30ce\u30e0\u89e3\u6790\uff08\u4f53\u7d30\u80de\u5909\u7570\uff09\u306e\u89e3\u91c8\u3084\u3001\u30bf\u30fc\u30b2\u30c3\u30c8\u6cbb\u7642\u85ac\u306e\u691c\u8a0e\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>COSMIC<\/strong> (Catalogue Of Somatic Mutations In Cancer)\u21b3<\/li>\n\n\n\n<li><strong>CIViC<\/strong> (Clinical Interpretation of Variants in Cancer)\u21b3<\/li>\n\n\n\n<li><strong>PMKB<\/strong> (Precision Medicine Knowledgebase)\u21b3<\/li>\n\n\n\n<li><strong>ICGC<\/strong> (International Cancer Genome Consortium)\u21b3<\/li>\n\n\n\n<li><strong>OncoKB<\/strong> \u203b<em>\u5225\u9014\u30e9\u30a4\u30bb\u30f3\u30b9\u8981\u4ef6\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/em><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udcbb In Silico \u4e88\u6e2c\u30c4\u30fc\u30eb\u30fb\u4fdd\u5b58\u6027\u30b9\u30b3\u30a2 (In Silico Predictors)<\/h3>\n\n\n\n<p>\u30a2\u30eb\u30b4\u30ea\u30ba\u30e0\u3092\u7528\u3044\u3066\u3001\u305d\u306e\u5909\u7570\u304c\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd\u3084\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u306b\u60aa\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u304b\uff08\u7db2\u7f85\u7684\u30b9\u30b3\u30a2\u3084\u9032\u5316\u7684\u306a\u4fdd\u5b58\u6027\uff09\u3092\u4e88\u6e2c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7dcf\u5408\u30fb\u30df\u30b9\u30bb\u30f3\u30b9\u4e88\u6e2c:<\/strong> REVEL, CADD, SIFT, PolyPhen-2, MutationTaster, DANN, MetaLR<\/li>\n\n\n\n<li><strong>\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u4e88\u6e2c:<\/strong> SpliceAI, scSNV, MaxEntScan, SpliceVarDB<\/li>\n\n\n\n<li><strong>\u4fdd\u5b58\u6027\u30b9\u30b3\u30a2:<\/strong> PhyloP (100way\u306a\u3069), PhastCons<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udc8a \u85ac\u7406\u30b2\u30ce\u30df\u30af\u30b9\u30fb\u85ac\u5264\u76f8\u4e92\u4f5c\u7528 (Pharmacogenomics)<\/h3>\n\n\n\n<p>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3068\u3001\u85ac\u5264\u306e\u52b9\u304d\u76ee\u3084\u526f\u4f5c\u7528\u3068\u306e\u95a2\u9023\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PharmGKB<\/strong> (Pharmacogenomics Knowledgebase)\u21b3<\/li>\n\n\n\n<li><strong>CPIC<\/strong> (Clinical Pharmacogenetics Implementation Consortium)\u21b3<\/li>\n\n\n\n<li><strong>DGIdb<\/strong> (Drug-Gene Interaction Database)\u21b3<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\ud83d\udcd6 \u907a\u4f1d\u5b50\u30fb\u8ee2\u5199\u7523\u7269\u30fb\u69cb\u9020\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3 (Gene &amp; Transcript)<\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u6b63\u78ba\u306a\u4f4d\u7f6e\u3001\u8ee2\u5199\u7523\u7269\uff08\u30c8\u30e9\u30f3\u30b9\u30af\u30ea\u30d7\u30c8\uff09\u306e\u5b9a\u7fa9\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u69cb\u9020\u30c9\u30e1\u30a4\u30f3\u306a\u3069\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Ensembl<\/strong><\/li>\n\n\n\n<li><strong>RefSeq<\/strong> (NCBI)\u21b3<\/li>\n\n\n\n<li><strong>UniProt<\/strong> (\u30bf\u30f3\u30d1\u30af\u8cea\u6a5f\u80fd\u30fb\u914d\u5217\u60c5\u5831)<\/li>\n\n\n\n<li><strong>Pfam<\/strong> (\u30bf\u30f3\u30d1\u30af\u8cea\u30c9\u30e1\u30a4\u30f3)<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u514d\u8cac\u4e8b\u9805<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">1. \u672c\u30b5\u30fc\u30d3\u30b9\u306e\u76ee\u7684\u3068\u533b\u7642\u884c\u70ba\u30fb\u8a3a\u65ad\u306e\u5426\u5b9a<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5f53\u30b5\u30fc\u30d3\u30b9\u306f\u3001\u304a\u5ba2\u69d8\u306eDNA\u60c5\u5831\u3092\u751f\u30c7\u30fc\u30bf\uff08FASTQ\u5f62\u5f0f\u7b49\uff09\u3068\u3057\u3066\u62bd\u51fa\u3057\u63d0\u4f9b\u3059\u308b\u3053\u3068\u3001\u304a\u3088\u3073\u6307\u5b9a\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u57fa\u3065\u3044\u305f\u5b66\u8853\u7684\u306a\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\u60c5\u5831\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002<strong>\u7814\u7a76\u7528\u3001\u3042\u308b\u3044\u306f\u500b\u4eba\u306e\u30c7\u30fc\u30bf\u4fdd\u7ba1\u30fb\u81ea\u5df1\u63a2\u6c42\u3092\u76ee\u7684\u3068\u3057\u305f\u3082\u306e\u3067\u3042\u308a\u3001\u3044\u304b\u306a\u308b\u533b\u7642\u884c\u70ba\u30fb\u533b\u7642\u8a3a\u65ad\u306b\u3082\u8a72\u5f53\u3057\u307e\u305b\u3093\u3002<\/strong><\/li>\n\n\n\n<li>\u5f53\u30b5\u30fc\u30d3\u30b9\u304c\u63d0\u4f9b\u3059\u308b\u30c7\u30fc\u30bf\u304a\u3088\u3073\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\u7d50\u679c\u306f\u3001\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u4e88\u9632\u3001\u6cbb\u7642\u65b9\u91dd\u306e\u6c7a\u5b9a\u3001\u307e\u305f\u306f\u7279\u5b9a\u306e\u533b\u85ac\u54c1\u306e\u52b9\u679c\u30fb\u526f\u4f5c\u7528\u306e\u5224\u5b9a\u306b\u5229\u7528\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u5065\u5eb7\u72b6\u614b\u306b\u3054\u4e0d\u5b89\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5fc5\u305a\u5c02\u9580\u306e\u533b\u7642\u6a5f\u95a2\u307e\u305f\u306f\u533b\u5e2b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">2. \u89e3\u6790\u6280\u8853\u3068\u7cbe\u5ea6\u306e\u9650\u754c<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5f53\u30b5\u30fc\u30d3\u30b9\u3067\u306f\u6700\u5148\u7aef\u306e\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u304a\u3088\u3073\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u6280\u8853\u3092\u7528\u3044\u3066\u89e3\u6790\u3092\u884c\u3044\u307e\u3059\u304c\u3001\u73fe\u5728\u306e\u79d1\u5b66\u6280\u8853\u306e\u6027\u8cea\u4e0a\u3001<strong>100%\u306e\u7db2\u7f85\u6027\u304a\u3088\u3073\u6b63\u78ba\u6027\u3092\u4fdd\u8a3c\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/li>\n\n\n\n<li>\u5168\u30a8\u30af\u30bd\u30f3\u9818\u57df\uff08\u30a8\u30af\u30bd\u30fc\u30e0\uff09\u3092\u5bfe\u8c61\u3068\u3057\u307e\u3059\u304c\u3001GC\u542b\u91cf\u304c\u6975\u7aef\u306b\u9ad8\u3044\u9818\u57df\u3001\u30ea\u30d4\u30fc\u30c8\u914d\u5217\u3001\u69cb\u9020\u7570\u5e38\uff08\u5927\u304d\u306a\u6b20\u5931\u3084\u91cd\u8907\u306a\u3069\uff09\u306b\u3088\u3063\u3066\u306f\u3001\u5341\u5206\u306a\u8aad\u307f\u53d6\u308a\uff08\u30ab\u30d0\u30ec\u30c3\u30b8\uff09\u304c\u5f97\u3089\u308c\u306a\u3044\u3001\u307e\u305f\u306f\u5909\u7570\u3092\u691c\u51fa\u3067\u304d\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">3. \u30b5\u30f3\u30d7\u30eb\u306e\u54c1\u8cea\u3068\u89e3\u6790\u306e\u53ef\u5426\u306b\u3064\u3044\u3066<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u304a\u5ba2\u69d8\u306b\u3088\u308b\u30b5\u30f3\u30d7\u30eb\u306e\u63a1\u53d6\u72b6\u614b\uff08\u982c\u7c98\u819c\u306e\u63a1\u53d6\u91cf\u4e0d\u8db3\u3001\u98f2\u98df\u76f4\u5f8c\u306e\u63a1\u53d6\u306b\u3088\u308b\u4e0d\u7d14\u7269\u306e\u6df7\u5165\u306a\u3069\uff09\u306b\u3088\u3063\u3066\u306f\u3001\u89e3\u6790\u306b\u5341\u5206\u306aDNA\u304c\u62bd\u51fa\u3067\u304d\u305a\u3001\u89e3\u6790\u306b\u5931\u6557\u3059\u308b\u5834\u5408\u304c\u3054\u3056\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u54c1\u8cea\u57fa\u6e96\u3092\u6e80\u305f\u3055\u306a\u3044\u5834\u5408\u3001\u518d\u63a1\u53d6\uff08\u30ad\u30c3\u30c8\u306e\u518d\u9001\u4ed8\uff09\u3092\u304a\u9858\u3044\u3059\u308b\u3053\u3068\u304c\u3054\u3056\u3044\u307e\u3059\u3002\u305d\u306e\u969b\u3001\u8ffd\u52a0\u306e\u30ad\u30c3\u30c8\u8cbb\u7528\u3084\u9001\u6599\u304c\u767a\u751f\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8907\u6570\u56de\u8a66\u307f\u3066\u3082\u89e3\u6790\u56f0\u96e3\u3068\u5224\u65ad\u3055\u308c\u305f\u5834\u5408\u306f\u3001\u30b5\u30fc\u30d3\u30b9\u3092\u30ad\u30e3\u30f3\u30bb\u30eb\u3068\u3055\u305b\u3066\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u3054\u3056\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">4. \u30c7\u30fc\u30bf\u306e\u5229\u7528\u3068\u304a\u5ba2\u69d8\u306e\u8cac\u4efb<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7d0d\u54c1\u3055\u308c\u305f\u751f\u30c7\u30fc\u30bf\uff08FASTQ, BAM, VCF\u5f62\u5f0f\u7b49\uff09\u3092\u5229\u7528\u3057\u305f\u3053\u3068\u306b\u3088\u308b\u3001\u304a\u5ba2\u69d8\u307e\u305f\u306f\u7b2c\u4e09\u8005\u306e\u3044\u304b\u306a\u308b\u4e0d\u5229\u76ca\u3001\u640d\u5bb3\u3001\u5fc3\u7406\u7684\u8ca0\u62c5\u306b\u3064\u3044\u3066\u3001\u5f53\u793e\u306f\u4e00\u5207\u306e\u8cac\u4efb\u3092\u8ca0\u3044\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u304a\u5ba2\u69d8\u3054\u81ea\u8eab\u3067\u30b5\u30fc\u30c9\u30d1\u30fc\u30c6\u30a3\u306e\u89e3\u6790\u30c4\u30fc\u30eb\u3084\u5916\u90e8\u30b5\u30fc\u30d3\u30b9\u3078\u5f53\u30c7\u30fc\u30bf\u3092\u30a2\u30c3\u30d7\u30ed\u30fc\u30c9\u3057\u5229\u7528\u3055\u308c\u305f\u5834\u5408\u3001\u305d\u308c\u306b\u4f34\u3046\u500b\u4eba\u60c5\u5831\u306e\u6f0f\u6d29\u30ea\u30b9\u30af\u3084\u3001\u8aa4\u3063\u305f\u89e3\u6790\u7d50\u679c\u306b\u57fa\u3065\u304f\u30c8\u30e9\u30d6\u30eb\u306b\u3064\u3044\u3066\u3001\u5f53\u793e\u306f\u95a2\u4e0e\u305b\u305a\u8cac\u4efb\u3092\u8ca0\u3044\u304b\u306d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">5. \u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u5909\u7570\u306e\u89e3\u91c8\uff09\u306b\u95a2\u3059\u308b\u514d\u8cac<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\u30aa\u30d7\u30b7\u30e7\u30f3\u306b\u3066\u63d0\u4f9b\u3055\u308c\u308b\u60c5\u5831\u306f\u3001\u89e3\u6790\u6642\u70b9\u306b\u304a\u3051\u308b\u516c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff08ClinVar, 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