{"id":12146,"date":"2021-01-24T03:21:06","date_gmt":"2021-01-24T08:21:06","guid":{"rendered":"https:\/\/nebula.org\/blog\/%e5%85%a8%e3%82%a8%e3%82%af%e3%82%bd%e3%83%bc%e3%83%a0%e3%82%b7%e3%83%bc%e3%82%b1%e3%83%b3%e3%82%b9\/"},"modified":"2021-02-25T10:35:54","modified_gmt":"2021-02-25T15:35:54","slug":"%e5%85%a8%e3%82%a8%e3%82%af%e3%82%bd%e3%83%bc%e3%83%a0%e3%82%b7%e3%83%bc%e3%82%b1%e3%83%b3%e3%82%b9","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/ja\/%e5%85%a8%e3%82%a8%e3%82%af%e3%82%bd%e3%83%bc%e3%83%a0%e3%82%b7%e3%83%bc%e3%82%b1%e3%83%b3%e3%82%b9\/","title":{"rendered":"\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0-\u30bf\u30f3\u30d1\u30af\u8cea\u30b3\u30fc\u30c9\u9818\u57df\u306e\u307f\u304c\u6700\u9069\u3067\u3059\u304b\uff1f"},"content":{"rendered":"\n<div class=\"wp-block-yoast-seo-table-of-contents yoast-table-of-contents\"><h2><strong>\u76ee\u6b21<\/strong><\/h2><ul><li><a href=\"#h-what-is-whole-exome-sequencing\" data-level=\"2\">\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/a><\/li><li><a href=\"#h-performing-whole-exome-sequencing\" data-level=\"2\">\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u5b9f\u884c<\/a><ul><li><a href=\"#h-dna-isolation-and-enrichment-strategies\" data-level=\"3\">DNA\u306e\u5206\u96e2\u3068\u6fc3\u7e2e\u6226\u7565<\/a><\/li><li><a href=\"#h-dna-sequencing\" data-level=\"3\">DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/a><\/li><li><a href=\"#h-data-analysis\" data-level=\"3\">\u30c7\u30fc\u30bf\u89e3\u6790<\/a><\/li><\/ul><\/li><li><a href=\"#h-who-should-get-tested\" data-level=\"2\">\u8ab0\u304c\u30c6\u30b9\u30c8\u3092\u53d7\u3051\u308b\u3079\u304d\u3067\u3059\u304b\uff1f<\/a><\/li><li><a href=\"#h-advantages-of-whole-exome-sequencing\" data-level=\"2\">\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u5229\u70b9<\/a><\/li><li><a href=\"#h-limitations-of-whole-exome-sequencing\" data-level=\"2\">\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u5236\u9650<\/a><\/li><li><a href=\"#h-chromosomal-microarray-vs-whole-exome-sequencing-vs-whole-genome-sequencing\" data-level=\"2\">\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4vs\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0vs\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/a><\/li><li><a href=\"#h-direct-to-consumer-whole-exome-sequencing-companies\" data-level=\"2\">\u6d88\u8cbb\u8005\u306e\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u4f1a\u793e\u306b\u76f4\u63a5<\/a><\/li><\/ul><\/div>\n\n<h2 class=\"wp-block-heading\" id=\"h-what-is-whole-exome-sequencing\"><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3068\u306f\u4f55\u3067\u3059\u304b\uff1f<\/strong><\/h2>\n\n<p>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08WES\uff09\u306f\u3001\u30b2\u30ce\u30e0\u5185\u306e\u3059\u3079\u3066\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u30b3\u30fc\u30c9\u907a\u4f1d\u5b50\u3067\u3042\u308b\u30a8\u30af\u30bd\u30fc\u30e0\u306e\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3067\u3059\u3002 \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306b\u306f2\u3064\u306e\u30b9\u30c6\u30c3\u30d7\u304c\u542b\u307e\u308c\u307e\u3059\u3002 \u6700\u521d\u306e\u30b9\u30c6\u30c3\u30d7\u306f\u3001\u4eba\u9593\u306e\u30a8\u30af\u30bd\u30fc\u30e0\u306e\u307f\u306e\u914d\u5217\u3092\u30bf\u30fc\u30b2\u30c3\u30c8\u306b\u3059\u308b\u3053\u3068\u3067\u3059\u3002 \u30d2\u30c8\u907a\u4f1d\u5b66\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u6a19\u7684\u9818\u57df\u306f\u7d046000\u4e07\u5869\u57fa\u5bfe\u3001\u3064\u307e\u308a\u30d2\u30c8\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\u30b2\u30ce\u30e0\u306e\u7d041\uff05\u3067\u3059\u3002 2\u756a\u76ee\u306e\u30b9\u30c6\u30c3\u30d7\u306f\u3001\u30cf\u30a4\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8DNA\u30b7\u30fc\u30b1\u30f3\u30b9\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u3092\u4f7f\u7528\u3057\u3066DNA\u3092\u30b7\u30fc\u30b1\u30f3\u30b9\u3057\u3001\u7d50\u679c\u3092\u5206\u6790\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u308a\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u914d\u5217\u306e\u5909\u5316\u306b\u3064\u306a\u304c\u308b\u907a\u4f1d\u7684\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u3001\u305d\u306e\u7d50\u679c\u3001\u6b21\u306e\u3088\u3046\u306a\u75c5\u6c17\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/nebula.org\/blog\/ja\/ldl-%e3%82%b3%e3%83%ac%e3%82%b9%e3%83%86%e3%83%ad%e3%83%bc%e3%83%ab-%e3%83%ac%e3%83%99%e3%83%ab-%e3%83%aa%e3%83%81%e3%83%a3%e3%83%bc%e3%83%89%e3%82%bd%e3%83%b3-2020\/\">\u30a2\u30c6\u30ed\u30fc\u30e0\u6027\u52d5\u8108\u786c\u5316\u75c7<\/a>\u3001<a href=\"https:\/\/nebula.org\/blog\/ja\/is-%e3%82%a2%e3%83%ab%e3%83%84%e3%83%8f%e3%82%a4%e3%83%9e%e3%83%bc%e7%97%85-%e9%81%ba%e4%bc%9d%e7%9a%84-2\/\">\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5<\/a>\u3001 \u305d\u306e\u4ed6\u3002 \u591a\u304f\u306e\u75c5\u6c17\u306f\u30b2\u30ce\u30e0\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u30b3\u30fc\u30c9\u9818\u57df\u3067\u767a\u751f\u3057\u3001\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306b\u3088\u308a\u3001\u30e6\u30fc\u30b6\u30fc\u306f\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u5206\u6790\u3088\u308a\u3082\u75c5\u6c17\u306e\u7d20\u56e0\u306b\u3064\u3044\u3066\u3088\u308a\u591a\u304f\u3092\u5b66\u3076\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 \u3057\u304b\u3057\u3001\u30a8\u30af\u30bd\u30f3\u306e\u5916\u5074\u306eDNA\u5909\u7570\u306f\u3001\u907a\u4f1d\u5b50\u6d3b\u6027\u3068\u30bf\u30f3\u30d1\u30af\u8cea\u7523\u751f\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u907a\u4f1d\u6027\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u73fe\u5728\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002 \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306f\u3053\u308c\u3089\u306e\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u3092\u898b\u9003\u3057\u307e\u3059\u3002<\/p>\n\n<p>\u3053\u308c\u307e\u3067\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u4e3b\u306a\u5229\u70b9\u306f\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3088\u308a\u3082\u8cbb\u7528\u52b9\u679c\u304c\u9ad8\u304f\u3001\u6642\u9593\u3082\u304b\u304b\u3089\u306a\u3044\u65b9\u6cd5\u3067\u3001\u3088\u308a\u512a\u308c\u305f\u907a\u4f1d\u5b50\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u5b9f\u884c\u3057\u3001\u30b3\u30d4\u30fc\u6570\u591a\u578b\u306a\u3069\u306e\u75be\u60a3\u95a2\u9023\u5909\u7570\u3092\u691c\u51fa\u3067\u304d\u308b\u3053\u3068\u3067\u3057\u305f\u3002 <strong>\u3057\u304b\u3057\u3001\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u9032\u6b69\u306e\u304a\u304b\u3052\u3067\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306f\u4eca\u3084\u540c\u3058\u304f\u3089\u3044\u901f\u304f\u3001\u540c\u3058\u304f\u3089\u3044\u624b\u9803\u306a\u4fa1\u683c\u3067\u3059\u3002<\/strong><a href=\"https:\/\/nebula.org\/blog\/ja\/30x-wgs\/\">\u661f\u96f2\u30b2\u30ce\u30df\u30af\u30b9<\/a>299\u30c9\u30eb\u4ee5\u4e0b\u3067\u6700\u3082\u624b\u9803\u306a30X\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002 \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u3088\u3046\u306b1\uff05\u3060\u3051\u3067\u306a\u304f\u3001100\uff05\u306eDNA\u3092\u30c7\u30b3\u30fc\u30c9\u3057\u3001DNA\u306e\u6700\u3082\u5305\u62ec\u7684\u306a\u30d3\u30e5\u30fc\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002 <\/p>\n\n<figure class=\"wp-block-table\"><table class=\"has-subtle-pale-pink-background-color has-background\"><tbody><tr><td><a href=\"https:\/\/nebula.org\/whole-genome-sequencing\/\"><strong>DNA\u3092100\uff05\u30c7\u30b3\u30fc\u30c9\u3059\u308b\u3053\u3068\u306b\u8208\u5473\u304c\u3042\u308a\u307e\u3059\u304b\uff1f Nebula Genomics\u306f\u3001\u6700\u3082\u624b\u9803\u306a\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002 \u30b2\u30ce\u30e0\u30c7\u30fc\u30bf\u3078\u306e\u30d5\u30eb\u30a2\u30af\u30bb\u30b9\u3001\u6700\u65b0\u306e\u79d1\u5b66\u7684\u767a\u898b\u306b\u57fa\u3065\u304f\u6bce\u9031\u306e\u66f4\u65b0\u3001\u9ad8\u5ea6\u306a\u7956\u5148\u5206\u6790\u3001\u304a\u3088\u3073\u5f37\u529b\u306a\u30b2\u30ce\u30e0\u63a2\u7d22\u30c4\u30fc\u30eb\u3092\u4f7f\u7528\u3057\u3066\u3001\u4e00\u751f\u306e\u767a\u898b\u3092\u958b\u59cb\u3057\u307e\u3059\u3002 \u8a73\u7d30\u306b\u3064\u3044\u3066\u306f\u3001\u3053\u3053\u3092\u30af\u30ea\u30c3\u30af\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/a><\/td><\/tr><\/tbody><\/table><\/figure>\n\n<h2 class=\"wp-block-heading\" id=\"h-performing-whole-exome-sequencing\"><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u5b9f\u884c<\/strong><\/h2>\n\n<p>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306f\u3001DNA\u306e\u5358\u96e2\u3068\u6fc3\u7e2e\u304b\u3089\u59cb\u307e\u308a\u3001DNA\u306e\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3068\u5206\u6790\u3067\u7d42\u308f\u308a\u307e\u3059\u3002<\/p>\n\n<h3 class=\"wp-block-heading\" id=\"h-dna-isolation-and-enrichment-strategies\">DNA\u306e\u5206\u96e2\u3068\u6fc3\u7e2e\u6226\u7565<\/h3>\n\n<p>DNA\u306f\u3001\u553e\u6db2\u30b5\u30f3\u30d7\u30eb\u3084\u982c\u30b9\u30ef\u30d6\u306a\u3069\u306e\u63d0\u4f9b\u3055\u308c\u305f\u30b5\u30f3\u30d7\u30eb\u304b\u3089\u5206\u96e2\u3055\u308c\u307e\u3059\u3002 DNA\u5206\u96e2\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u5f62\u5f0f\u306f\u3001\u30d5\u30a7\u30ce\u30fc\u30eb-\u30af\u30ed\u30ed\u30db\u30eb\u30e0\u62bd\u51fa\u3067\u3059\u3002<\/p>\n\n<p>\u30b5\u30f3\u30d7\u30eb\u304b\u3089DNA\u3092\u6fc3\u7e2e\u3059\u308b\u305f\u3081\u306e\u3044\u304f\u3064\u304b\u306e\u6226\u7565\u304c\u3042\u308a\u307e\u3059\u3002 \u4f7f\u7528\u3055\u308c\u308b\u65b9\u6cd5\u306f\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u30b5\u30f3\u30d7\u30eb\u3068\u76ee\u7684\u306e\u7d50\u679c\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"759\" height=\"910\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-1.1-1.png\" alt=\"&#x5168;&#x30A8;&#x30AF;&#x30BD;&#x30FC;&#x30E0;&#x30B7;&#x30FC;&#x30B1;&#x30F3;&#x30B7;&#x30F3;&#x30B0;-DNA&#x30CF;&#x30A4;&#x30D6;&#x30EA;&#x30C0;&#x30A4;&#x30BC;&#x30FC;&#x30B7;&#x30E7;&#x30F3;&#x30B9;&#x30C6;&#x30C3;&#x30D7;\" class=\"wp-image-11882\" srcset=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-1.1-1.png 759w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-1.1-1-250x300.png 250w\" sizes=\"(max-width: 759px) 100vw, 759px\" \/><figcaption>\u30b2\u30ce\u30e0\u306e\u30a8\u30af\u30bd\u30fc\u30e0\u9818\u57df\u3092\u5206\u96e2\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3055\u308c\u308bDNA\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3002<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Exome_Sequencing_Workflow_1a.png\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a><a href=\"https:\/\/en.wikipedia.org\/wiki\/en:Creative_Commons\">CC<\/a> &#8211;<a href=\"https:\/\/creativecommons.org\/licenses\/by\/3.0\/deed.en\">\u30a2\u30c8\u30ea\u30d3\u30e5\u30fc\u30b7\u30e7\u30f33.0\u79fb\u690d\u3055\u308c\u3066\u3044\u306a\u3044<\/a>\u3002<\/figcaption><\/figure><\/div>\n\n<ul class=\"wp-block-list\"><li>PCR\uff1a\u30dd\u30ea\u30e1\u30e9\u30fc\u30bc\u9023\u9396\u53cd\u5fdc\uff08PCR\uff09\u306f\u3001\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u5fc5\u8981\u306aDNA\u30d5\u30e9\u30b0\u30e1\u30f3\u30c8\u3092\u5897\u5e45\u3059\u308b\u6700\u3082\u4e00\u822c\u7684\u306a\u65b9\u6cd5\u3067\u3059\u3002 <\/li><li>\u5206\u5b50\u53cd\u8ee2\uff1a\u3053\u306e\u65b9\u6cd5\u3067\u306f\u3001\u30ea\u30f3\u30b0\u5185\u306e\u95a2\u5fc3\u9818\u57df\u3092\u9589\u3058\u307e\u3059\u3002 \u4e00\u672c\u9396DNA\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30d7\u30e9\u30a4\u30de\u30fc\u306f\u3001\u5236\u9650\u90e8\u4f4d\u3092\u6301\u3064\u666e\u904d\u7684\u306a\u914d\u5217\u3092\u6301\u3064\u4e2d\u592e\u90e8\u5206\u3092\u542b\u307f\u3001\u4e00\u65b9\u3001\u672b\u7aef\u306f\u3001\u76ee\u7684\u306e\u914d\u5217\u304c\u4f4d\u7f6e\u3059\u308b\u30b2\u30ce\u30e0DNA\u306e2\u3064\u306e\u30bb\u30af\u30b7\u30e7\u30f3\u306b\u76f8\u88dc\u7684\u3067\u3059\u3002<\/li><li>\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3001\u30a2\u30ec\u30a4\u30d9\u30fc\u30b9\u306e\u6355\u6349\uff1a\u76ee\u7684\u306e\u90e8\u4f4d\u3092\u30ab\u30d0\u30fc\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u30b2\u30ce\u30e0\u304b\u3089\u306e\u914d\u5217\u3092\u6709\u3059\u308b\u57fa\u8cea\u306b\u4ed8\u7740\u3057\u305f\u4e00\u672c\u9396\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u3092\u542b\u3080\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u304c\u4f7f\u7528\u3055\u308c\u308b\u3002 \u30b2\u30ce\u30e0DNA\u3092\u65ad\u7247\u306b\u5207\u65ad\u3057\u3001\u65ad\u7247\u306e\u7aef\u3092\u920d\u304f\u3057\u3001\u30e6\u30cb\u30d0\u30fc\u30b5\u30eb\u30d7\u30e9\u30a4\u30de\u30fc\u3092\u8ffd\u52a0\u3057\u307e\u3059\u3002 \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u4e0a\u306e\u30d7\u30ed\u30fc\u30d6\u3068\u30d5\u30e9\u30b0\u30e1\u30f3\u30c8\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u5f8c\u3001\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30ba\u3057\u3066\u3044\u306a\u3044\u30d5\u30e9\u30b0\u30e1\u30f3\u30c8\u3092\u57fa\u8cea\u304b\u3089\u6d17\u3044\u6d41\u3057\u3001\u6b8b\u308a\u306e\u30d5\u30e9\u30b0\u30e1\u30f3\u30c8\u3092PCR\u3092\u4f7f\u7528\u3057\u3066\u5897\u5e45\u3057\u307e\u3059\u3002<\/li><li>\u6eb6\u6db2\u4e2d\u306e\u6355\u6349\uff1a\u30d7\u30ed\u30fc\u30d6\u306e\u30bb\u30c3\u30c8\u304c\u6eb6\u6db2\u4e2d\u3067\u5408\u6210\u3055\u308c\u3001\u30b9\u30c8\u30ec\u30d7\u30c8\u30a2\u30d3\u30b8\u30f3\u30d3\u30fc\u30ba\u306b\u56fa\u5b9a\u3055\u308c\u307e\u3059\u3002 \u30d3\u30fc\u30ba\u306f\u3001\u65ad\u7247\u5316\u3055\u308c\u305f\u30b2\u30ce\u30e0DNA\u3092\u542b\u3080\u6eb6\u6db2\u306b\u5165\u308c\u3089\u308c\u3001\u30d7\u30ed\u30fc\u30d6\u304c\u76ee\u7684\u306e\u30b2\u30ce\u30e0\u90e8\u4f4d\u306b\u9078\u629e\u7684\u306b\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30ba\u3055\u308c\u305f\u5f8c\u3001\u76ee\u7684\u306e\u65ad\u7247\u3092\u542b\u3080\u30d3\u30fc\u30ba\u304c\u6c88\u6bbf\u3057\u3001\u6d17\u6d44\u3055\u308c\u307e\u3059\u3002 \u6b21\u306b\u3001\u30bb\u30af\u30b7\u30e7\u30f3\u304c\u9806\u5e8f\u4ed8\u3051\u3089\u308c\u307e\u3059\u3002 <\/li><\/ul>\n\n<h3 class=\"wp-block-heading\" id=\"h-dna-sequencing\">DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/h3>\n\n<p>\u6ca2\u5c71\u3042\u308a\u307e\u3059<a href=\"https:\/\/nebula.org\/blog\/ja\/dna-%e3%82%b7%e3%83%bc%e3%82%b1%e3%83%b3%e3%82%b9\/\">\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09<\/a>\u5229\u7528\u53ef\u80fd\u306a\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u3002 \u4e00\u90e8\u306b\u306f\u3001Roche454\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3068LifeTechnologies SOLiD\u30b7\u30b9\u30c6\u30e0\u3001Life Technologies IonTorrent\u3068Illumina\u306eIlluminaGenome Analyzer II\uff08\u5ec3\u6b62\uff09\u3001\u304a\u3088\u3073\u305d\u308c\u306b\u7d9a\u304fIllumina MiSeq\u3001HiSeq\u3001NovaSeq\u30b7\u30ea\u30fc\u30ba\u306e\u6a5f\u5668\u304c\u542b\u307e\u308c\u307e\u3059\u3002 \u300c\u30b7\u30e7\u30fc\u30c8\u30ea\u30fc\u30c9\u300d NGS\u30b7\u30b9\u30c6\u30e0\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u306b\u898b\u3089\u308c\u308b\u3088\u3046\u306b\u3001\u6bd4\u8f03\u7684\u77ed\u3044DNA\u914d\u5217\u306e\u591a\u304f\u3092\u5206\u6790\u3059\u308b\u306e\u306b\u7406\u60f3\u7684\u3067\u3059\u3002 <\/p>\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"845\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-2.1-1024x845.png\" alt=\"&#x5168;&#x30A8;&#x30AF;&#x30BD;&#x30FC;&#x30E0;DNA&#x30B7;&#x30FC;&#x30B1;&#x30F3;&#x30B7;&#x30F3;&#x30B0;\" class=\"wp-image-11873\" srcset=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-2.1-1024x845.png 1024w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-2.1-300x248.png 300w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-2.1-768x634.png 768w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-2.1.png 924w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption>\u5897\u5e45\u5f8c\u3001\u30bf\u30fc\u30b2\u30c3\u30c8DNA\u306f\u30cf\u30a4\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u3063\u3066\u5206\u6790\u3055\u308c\u307e\u3059\u3002<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Exome_Sequencing_workflow_1b.png\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a><a href=\"https:\/\/en.wikipedia.org\/wiki\/en:Creative_Commons\">CC<\/a> &#8211;<a href=\"https:\/\/creativecommons.org\/licenses\/by\/3.0\/deed.en\">\u30a2\u30c8\u30ea\u30d3\u30e5\u30fc\u30b7\u30e7\u30f33.0\u79fb\u690d\u3055\u308c\u3066\u3044\u306a\u3044<\/a>\u3002<\/figcaption><\/figure><\/div>\n\n<h3 class=\"wp-block-heading\" id=\"h-data-analysis\">\u30c7\u30fc\u30bf\u89e3\u6790<\/h3>\n\n<p>\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u308f\u305a\u304b1\uff05\u3092\u30c7\u30b3\u30fc\u30c9\u3059\u308b\u3060\u3051\u3067\u3082\u3001\u7d048 GB\u306e\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u30c7\u30fc\u30bf\u30b5\u30a4\u30ba\u304c\u751f\u6210\u3055\u308c\u308b\u305f\u3081\u3001\u5927\u91cf\u306e\u30c7\u30fc\u30bf\u5206\u6790\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u8aad\u307f\u53d6\u308a\u3092\u8abf\u6574\u304a\u3088\u3073\u30a2\u30bb\u30f3\u30d6\u30eb\u3059\u308b\u305f\u3081\u306e\u591a\u6570\u306e\u30d7\u30ed\u30b0\u30e9\u30e0\u304c\u3042\u308a\u307e\u3059\u3002 \u30c7\u30fc\u30bf\u751f\u6210\u306e\u54c1\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306b\u4f7f\u7528\u3055\u308c\u308b\u3044\u304f\u3064\u304b\u306e\u6226\u7565\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n<ul class=\"wp-block-list\"><li>\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3068\u30a2\u30ec\u30a4\u30d9\u30fc\u30b9\u306e\u30b8\u30a7\u30ce\u30bf\u30a4\u30d4\u30f3\u30b0\u306e\u9593\u3067\u7279\u5b9a\u3055\u308c\u305f\u907a\u4f1d\u7684\u5909\u7570\u306e\u6bd4\u8f03\uff08\u53ef\u80fd\u306a\u5834\u5408\uff09<\/li><li>\u30b3\u30fc\u30c7\u30a3\u30f3\u30b0SNP\u3092\u3001\u969c\u5bb3\u306e\u3042\u308b\u5168\u30b2\u30ce\u30e0\u914d\u5217\u6c7a\u5b9a\u3055\u308c\u305f\u500b\u4eba\u3068\u6bd4\u8f03\u3059\u308b<\/li><li>\u30b3\u30fc\u30c7\u30a3\u30f3\u30b0SNP\u3068HapMap\u500b\u4eba\u306e\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u6bd4\u8f03<\/li><\/ul>\n\n<p>\u4f5c\u6210\u3059\u308b\u306b\u306f<a href=\"https:\/\/www.ebi.ac.uk\/training-beta\/online\/courses\/human-genetic-variation-introduction\/variant-identification-and-analysis\/\">\u30d0\u30ea\u30a2\u30f3\u30c8\u547c\u3073\u51fa\u3057<\/a>\u3001\u5206\u6790\u30d7\u30ed\u30b0\u30e9\u30e0\u306f\u3001\u30b7\u30fc\u30b1\u30f3\u30b9\u30c7\u30fc\u30bf\u304b\u3089\u30d0\u30ea\u30a2\u30f3\u30c8\u3092\u8b58\u5225\u3057\u3066\u3001\u3055\u307e\u3056\u307e\u306a\u30d5\u30a1\u30a4\u30eb\u3092\u4f5c\u6210\u3057\u307e\u3059\u3002 \u4e00\u822c\u7684\u306a\u30d5\u30a1\u30a4\u30eb\u306b\u306f\u3001FASTQ\u3001BAM \/ CRAM\u3001\u304a\u3088\u3073VCF\u30d5\u30a1\u30a4\u30eb\u304c\u3042\u308a\u307e\u3059\u3002 <\/p>\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-3.png\" alt=\"&#x5168;&#x30A8;&#x30AF;&#x30BD;&#x30FC;&#x30E0;&#x30B7;&#x30FC;&#x30B1;&#x30F3;&#x30B9;&#x306E;&#x7D50;&#x679C; \" class=\"wp-image-11858\" width=\"503\" height=\"497\" srcset=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-3.png 412w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-3-300x296.png 300w\" sizes=\"(max-width: 503px) 100vw, 503px\" \/><figcaption>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u7d50\u679c\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u764c\u306e\u5909\u7570\u4f53\u306e\u7279\u5b9a\u3001\u307e\u305f\u306f\u611f\u67d3\u75c7\u306e\u8ffd\u8de1\u306b\u4f7f\u7528\u3067\u304d\u307e\u3059\u3002<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Whole_genome_sequencing_pipeline_(29797578893).jpg\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a><a href=\"https:\/\/en.wikipedia.org\/wiki\/en:Creative_Commons\">CC<\/a> &#8211;<a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/deed.en\">\u30a2\u30c8\u30ea\u30d3\u30e5\u30fc\u30b7\u30e7\u30f32.0\u30b8\u30a7\u30cd\u30ea\u30c3\u30af<\/a>\u3002<\/figcaption><\/figure><\/div>\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u5168\u4f53\u306e\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u624b\u9806\u5168\u4f53\u306e\u8a73\u7d30\u3092\u8aad\u3080\u3053\u3068\u304c\u3067\u304d\u307e\u3059<a href=\"https:\/\/en.wikipedia.org\/wiki\/Exome_sequencing\">wiki\u30da\u30fc\u30b8<\/a>\u3002 <\/p>\n\n<h2 class=\"wp-block-heading\" id=\"h-who-should-get-tested\"><strong>\u8ab0\u304c\u30c6\u30b9\u30c8\u3092\u53d7\u3051\u308b\u3079\u304d\u3067\u3059\u304b\uff1f<\/strong><\/h2>\n\n<p>\u30b6\u30fb<a href=\"https:\/\/medlineplus.gov\/genetics\/understanding\/testing\/sequencing\/\">\u30a2\u30e1\u30ea\u30ab\u30f3\u30ab\u30ec\u30c3\u30b8\u30aa\u30d6\u30e1\u30c7\u30a3\u30ab\u30eb\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u30a2\u30f3\u30c9\u30b2\u30ce\u30df\u30af\u30b9<\/a>\u30b7\u30fc\u30b1\u30f3\u30b9\u624b\u6cd5\u3092\u3044\u3064\u4f7f\u7528\u3059\u308b\u304b\u3001\u3069\u306e\u3088\u3046\u306a\u7d50\u679c\u304c\u751f\u3058\u308b\u304b\u3001\u304a\u3088\u3073\u7d50\u679c\u304c\u4f55\u3092\u793a\u3059\u304b\u306b\u95a2\u3059\u308b\u30dd\u30ea\u30b7\u30fc\u304c\u3042\u308a\u307e\u3059\u3002 <\/p>\n\n<p>\u5177\u4f53\u7684\u306b\u306f\u3001\u4ee5\u4e0b\u3092\u542b\u3080\u7279\u5b9a\u306e\u500b\u4eba\u306b\u5bfe\u3057\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3092\u63a8\u5968\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<ol class=\"wp-block-list\"><li>\u8868\u73fe\u578b\u307e\u305f\u306f\u5bb6\u65cf\u6b74\u306e\u30c7\u30fc\u30bf\u306f\u907a\u4f1d\u7684\u75c5\u56e0\u3092\u5f37\u304f\u793a\u5506\u3057\u3066\u3044\u308b\u304c\u3001\u8868\u73fe\u578b\u306f\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u3092\u6a19\u7684\u3068\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u81e8\u5e8a\u7684\u306b\u5229\u7528\u53ef\u80fd\u306a\u7279\u5b9a\u306e\u969c\u5bb3\u306b\u5bfe\u5fdc\u3057\u3066\u3044\u306a\u3044<\/li><li>\u60a3\u8005\u306f\u3001\u9ad8\u5ea6\u306a\u907a\u4f1d\u7684\u7570\u8cea\u6027\u3092\u793a\u3059\u5b9a\u7fa9\u3055\u308c\u305f\u907a\u4f1d\u7684\u969c\u5bb3\u3092\u5448\u3057\u3001\u8907\u6570\u306e\u907a\u4f1d\u5b50\u306eWES\u307e\u305f\u306fWGS\u5206\u6790\u3092\u540c\u6642\u306b\u3088\u308a\u5b9f\u7528\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3057\u307e\u3059 <\/li><li>\u60a3\u8005\u306f\u907a\u4f1d\u6027\u75be\u60a3\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u306e\u8868\u73fe\u578b\u306b\u5229\u7528\u3067\u304d\u308b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u8a3a\u65ad\u306b\u5230\u9054\u3057\u3066\u3044\u307e\u305b\u3093<\/li><li>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u907a\u4f1d\u6027\u75be\u60a3\u306e\u80ce\u5150<\/li><\/ol>\n\n<h2 class=\"wp-block-heading\" id=\"h-advantages-of-whole-exome-sequencing\"><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u5229\u70b9<\/strong><\/h2>\n\n<p>\u4ed6\u306e\u3088\u3046\u306b\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u6280\u8853<a href=\"https:\/\/nebula.org\/blog\/ja\/intro-to-dna-testing-methods\/\">DNA\u691c\u67fb\u6cd5<\/a>\u306f\u3001\u30b2\u30ce\u30e0\u3092\u4f7f\u7528\u3057\u3066\u30e1\u30f3\u30c7\u30eb\u306e\u6cd5\u5247\u306e\u8a3a\u65ad\u3068\u6cbb\u7642\u306e\u6307\u91dd\u3092\u793a\u3059\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002 \u307e\u305f\u3001\u5bb6\u65cf\u306b\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u30a2\u30c9\u30d0\u30a4\u30b9\u3059\u308b\u306e\u306b\u5f79\u7acb\u3064\u60c5\u5831\u3092\u30e6\u30fc\u30b6\u30fc\u306b\u63d0\u4f9b\u3057\u307e\u3059\u3002 <\/p>\n\n<p>\u3053\u306e\u65b9\u6cd5\u306b\u306f\u3001DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u65b9\u6cd5\u306e1\u3064\u3067\u3042\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u5206\u6790\u306b\u6bd4\u3079\u3066\u3044\u304f\u3064\u304b\u306e\u5229\u70b9\u304c\u3042\u308a\u307e\u3059\u3002 \u307e\u305a\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u308a\u3001\u30c6\u30b9\u30c8\u3055\u308c\u3066\u3044\u306a\u3044\u5019\u88dc\u907a\u4f1d\u5b50\u306e\u5e45\u5e83\u3044\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 \u3053\u306e\u3088\u3046\u306b\u3057\u3066\u3001\u30e6\u30fc\u30b6\u30fc\u306f\u3001\u30ea\u30b9\u30af\u304c\u3042\u308b\u3068\u306f\u601d\u308f\u306a\u304b\u3063\u305f\u53ef\u80fd\u6027\u306e\u3042\u308b\u75be\u60a3\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002 \u7b2c\u4e8c\u306b\u3001\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u308a\u3001\u7570\u306a\u308b\u907a\u4f1d\u5b50\u304b\u3089\u306e\u5909\u7570\u304c\u540c\u3058\u60a3\u8005\u306e\u7570\u306a\u308b\u8868\u73fe\u578b\u306b\u5bc4\u4e0e\u3059\u308b\u30b1\u30fc\u30b9\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 <\/p>\n\n<p>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306f\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044\u907a\u4f1d\u6027\u306e\u5e0c\u5c11\u75be\u60a3\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306e\u79d1\u5b66\u7814\u7a76\u306b\u3082\u4f7f\u7528\u3067\u304d\u307e\u3059\u3002 \u305f\u3068\u3048\u3070\u3001\u3044\u304f\u3064\u304b\u306e\u91cd\u5ea6\u306e\u969c\u5bb3\u306e\u5bfe\u7acb\u907a\u4f1d\u5b50\u5909\u7570\u4f53\u306f\u30a8\u30af\u30bd\u30f3\u306b\u4f4d\u7f6e\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u96c6\u56e3\u3067\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3059\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u52b9\u679c\u7684\u3067\u3042\u308b\u305f\u3081\u306b\u5927\u304d\u306a\u5bfe\u7acb\u907a\u4f1d\u5b50\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u5fc5\u8981\u3068\u3059\u308b\u6a19\u6e96\u7684\u306a\u30b8\u30a7\u30ce\u30bf\u30a4\u30d4\u30f3\u30b0\u30a2\u30c3\u30bb\u30a4\u306f\u3001\u3057\u3070\u3057\u3070\u3053\u308c\u3089\u306e\u5909\u7570\u4f53\u3092\u898b\u9003\u3057\u307e\u3059\u3002 \u8907\u6570\u306e\u30b1\u30fc\u30b9\u30b9\u30bf\u30c7\u30a3\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u30a2\u30d7\u30ed\u30fc\u30c1\u5168\u4f53\u306e\u6709\u7528\u6027\u3092\u5f37\u8abf\u3057\u3066\u3044\u307e\u3059\u3002 2009\u5e74\u306b\u306f\u3001<a href=\"https:\/\/www.pnas.org\/content\/106\/45\/19096\">\u79d1\u5b66\u8005<\/a>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3092\u4f7f\u7528\u3057\u3066\u3001\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u3068\u5148\u5929\u6027\u5869\u5316\u7269\u4e0b\u75e2\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3057\u305f\u3002 <\/p>\n\n<p>2011\u5e74\u3001AmbryGenetics\u306f<a href=\"https:\/\/www.prnewswire.com\/news-releases\/ambry-genetics-first-to-offer-exome-sequencing-service-for-clinical-diagnostics-130780498.html\">\u6700\u521d\u306e\u4f1a\u793e<\/a>\u81e8\u5e8a\u75be\u60a3\u8a3a\u65ad\u306e\u305f\u3081\u306e\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30b5\u30fc\u30d3\u30b9\u3092\u63d0\u4f9b\u3059\u308b\u3002 \u540c\u793e\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u7d50\u679c\u306b\u3088\u308a\u3001\u5f93\u6765\u306e\u8a3a\u65ad\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u9069\u7528\u3067\u304d\u306a\u3044\u75be\u60a3\u3092\u8a3a\u65ad\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u3068\u4e3b\u5f35\u3057\u3066\u3044\u307e\u3059\u3002 \u3042\u306a\u305f\u306f\u306e\u6b74\u53f2\u3068\u7d50\u679c\u306b\u3064\u3044\u3066\u3082\u3063\u3068\u8aad\u3080\u3053\u3068\u304c\u3067\u304d\u307e\u3059<a href=\"https:\/\/nebula.org\/blog\/ja\/ambry-genetics-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">\u30a2\u30f3\u30d6\u30ea\u30fc\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9<\/a>\u79c1\u305f\u3061\u306e\u88fd\u54c1\u30ec\u30d3\u30e5\u30fc\u3067\uff01<\/p>\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" src=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-4.png\" alt=\"&#x5168;&#x30A8;&#x30AF;&#x30BD;&#x30FC;&#x30E0;&#x30B7;&#x30FC;&#x30B1;&#x30F3;&#x30B9;&#x30EF;&#x30FC;&#x30AF;&#x30D5;&#x30ED;&#x30FC;\" class=\"wp-image-11864\" width=\"324\" height=\"698\" srcset=\"https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-4.png 201w, https:\/\/nebula.org\/blog\/wp-content\/uploads\/2021\/01\/WES-4-139x300.png 139w\" sizes=\"(max-width: 324px) 100vw, 324px\" \/><figcaption>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u30ef\u30fc\u30af\u30d5\u30ed\u30fc\u3002<a href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Whole_genome_sequencing_pipeline_(29797578893).jpg\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a><a href=\"https:\/\/en.wikipedia.org\/wiki\/en:Creative_Commons\">CC<\/a> &#8211;<a href=\"https:\/\/creativecommons.org\/licenses\/by\/2.0\/deed.en\">\u30a2\u30c8\u30ea\u30d3\u30e5\u30fc\u30b7\u30e7\u30f32.0\u30b8\u30a7\u30cd\u30ea\u30c3\u30af<\/a>\u3002<\/figcaption><\/figure><\/div>\n\n<h2 class=\"wp-block-heading\" id=\"h-limitations-of-whole-exome-sequencing\"><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u5236\u9650<\/strong><\/h2>\n\n<p><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3068\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/strong>\uff1a\u3053\u308c\u3089\u306e\u624b\u9806\u306f\u4e21\u65b9\u3068\u3082\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3067\u3059\u3002 \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306f\u3001\u75be\u60a3\u30ea\u30b9\u30af\u306e\u81e8\u5e8a\u5206\u6790\u306e\u305f\u3081\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u30d9\u30fc\u30b9\u306e\u30b8\u30a7\u30ce\u30bf\u30a4\u30d4\u30f3\u30b0\u306b\u6bd4\u3079\u3066\u3044\u304f\u3064\u304b\u306e\u5229\u70b9\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u5236\u9650\u3082\u3042\u308a\u307e\u3059\u3002 \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3068\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u6700\u3082\u91cd\u8981\u306a\u9055\u3044\u306f\u3001\u30b7\u30fc\u30b1\u30f3\u30b9\u3055\u308c\u305fDNA\u306e\u91cf\u3067\u3059\u3002 \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306f\u30b2\u30ce\u30e0\u306e1\uff05\u3057\u304b\u30c7\u30b3\u30fc\u30c9\u3057\u306a\u3044\u305f\u3081\u3001\u69cb\u9020\u9818\u57df\u3068\u975e\u30b3\u30fc\u30c9\u9818\u57df\u3092\u542b\u3080\u4ed6\u306e99\uff05\u306e\u5206\u6790\u306b\u5931\u6557\u3057\u307e\u3059\u3002 \u4e00\u65b9\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3067\u306f\u300130\u5104\u5869\u57fa\u5bfe\u3059\u3079\u3066\u3092\u542b\u3080DNA\u306e\u5b8c\u5168\u306a100\uff05\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3059\uff08\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3067\u30ab\u30d0\u30fc\u3055\u308c\u308b\u306e\u306f4000\u4e07\u5869\u57fa\u5bfe\u306e\u307f\u3067\u3059\uff09\u3002<\/p>\n\n<p><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u8cbb\u7528\u306f\u3044\u304f\u3089\u3067\u3059\u304b\uff1f<\/strong> \u3057\u3070\u3089\u304f\u306e\u9593\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u4f4e\u4fa1\u683c\u3067\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u30b8\u30a7\u30ce\u30bf\u30a4\u30d4\u30f3\u30b0\u3068\u6bd4\u8f03\u3057\u3066DNA\u30b3\u30fc\u30c9\u9818\u57df\u306e\u62e1\u5f35\u30d3\u30e5\u30fc\u3092\u63d0\u4f9b\u3059\u308b\u305f\u3081\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306f\u6700\u3082\u6709\u76ca\u306a\u30bf\u30a4\u30d7\u306eDNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3068\u898b\u306a\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002 \u305f\u3060\u3057\u3001\u3053\u308c\u306f\u3082\u306f\u3084\u5f53\u3066\u306f\u307e\u308a\u307e\u305b\u3093\u3002 <\/p>\n\n<p>\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306f\u3001\u5143\u306e\u4fa1\u683c\u306e\u4f55\u5206\u306e1\u304b\u3067\u5b9f\u73fe\u3067\u304d\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3088\u308a\u3082\u591a\u304f\u306e\u60c5\u5831\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002 \u3067<a href=\"https:\/\/nebula.org\/blog\/ja\/30x-wgs\/\">\u661f\u96f2\u30b2\u30ce\u30df\u30af\u30b9<\/a>\u3001299\u30c9\u30eb\u672a\u6e80\u3067\u30b2\u30ce\u30e0\u5168\u4f53\u306e\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u53d6\u5f97\u3067\u304d\u307e\u3059\u3002 \u3053\u308c\u306f\u3001\u591a\u304f\u306e\u5bb6\u5ead\u7528\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u88fd\u54c1\u306b\u5339\u6575\u3057\u3001\u3055\u3089\u306b\u5b89\u4fa1\u3067\u3059\u3002<\/p>\n\n<h2 class=\"wp-block-heading\" id=\"h-chromosomal-microarray-vs-whole-exome-sequencing-vs-whole-genome-sequencing\"><strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4vs\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0vs\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/strong><\/h2>\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td><\/td><td>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u30b8\u30a7\u30ce\u30bf\u30a4\u30d4\u30f3\u30b0<\/td><td>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/td><td>\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9<\/td><\/tr><tr><td>\u76ee\u7684<\/td><td>\u7279\u5b9a\u306e\u30d0\u30ea\u30a2\u30f3\u30c8\u3092\u7279\u5b9a\u3059\u308b<\/td><td>\u3059\u3079\u3066\u306e\u907a\u4f1d\u5b50\u3092\u30c7\u30b3\u30fc\u30c9\u3059\u308b<\/td><td>\u3059\u3079\u3066\u306e\u907a\u4f1d\u5b50\u3068\u3059\u3079\u3066\u306e\u69cb\u9020\u9818\u57df\u304a\u3088\u3073\u975e\u30b3\u30fc\u30c9\u9818\u57df\u3092\u30c7\u30b3\u30fc\u30c9\u3057\u307e\u3059<\/td><\/tr><tr><td>\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8<\/td><td>\u4f4e\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8<\/td><td>\u30cf\u30a4\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8<\/td><td>\u30cf\u30a4\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8<\/td><\/tr><tr><td>\u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u4e8b\u524d\u8b58\u5225\u304c\u5fc5\u8981<\/td><td>\u306f\u3044<\/td><td>\u756a\u53f7<\/td><td>\u756a\u53f7<\/td><\/tr><tr><td>\u30ab\u30d0\u30ec\u30c3\u30b8\u306e\u91cf<\/td><td>50\u4e07\u30dd\u30b8\u30b7\u30e7\u30f3<br\/>\uff08\u30b2\u30ce\u30e0\u306e0.02\uff05\uff09<\/td><td>6000\u4e07\u30dd\u30b8\u30b7\u30e7\u30f3<br\/>\uff08\u30b2\u30ce\u30e0\u306e\u7d041\uff05\uff09<\/td><td>60\u5104\u306e\u30dd\u30b8\u30b7\u30e7\u30f3<br\/>\uff08\u30b2\u30ce\u30e0\u306e\u7d04100\uff05\uff09<\/td><\/tr><tr><td>\u8cbb\u7528<\/td><td>\u301c$ 100<\/td><td>\u301c$ 300<\/td><td>\u301c$ 1000<br\/><a href=\"https:\/\/nebula.org\/blog\/ja\/30x-wgs\/\">\uff08\u305f\u3060\u3057\u3001Nebula Genomics\u306f299\u30c9\u30eb\u3067\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\uff09<\/a><\/td><\/tr><\/tbody><\/table><\/figure>\n\n<h2 class=\"wp-block-heading\" id=\"h-direct-to-consumer-whole-exome-sequencing-companies\"><strong>\u6d88\u8cbb\u8005\u306e\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u4f1a\u793e\u306b\u76f4\u63a5<\/strong><\/h2>\n\n<p>\u3055\u307e\u3056\u307e\u306a\u4f01\u696d\u304c\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u88fd\u54c1\u3092\u8ca9\u58f2\u3057\u3066\u3044\u307e\u3059\u3002 \u3053\u308c\u3089\u306e\u88fd\u54c1\u306e\u4e00\u90e8\u306f\u3001\u533b\u7642\u63d0\u4f9b\u8005\u3092\u901a\u3058\u3066\u6ce8\u6587\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u4fdd\u967a\u306e\u5bfe\u8c61\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002 \u3053\u308c\u3089\u306e\u691c\u67fb\u306f\u3001\u75c5\u6c17\u306e\u8a3a\u65ad\u306b\u3088\u304f\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002 \u4e00\u90e8\u306e\u4f01\u696d\u306f\u3001CLIA\u627f\u8a8d\u304a\u3088\u3073CAP\u8a8d\u5b9a\u30e9\u30dc\u3067\u5206\u6790\u3055\u308c\u308b\u6d88\u8cbb\u8005\u5411\u3051\u5728\u5b85\u30c6\u30b9\u30c8\u3068\u3057\u3066\u30b5\u30fc\u30d3\u30b9\u3092\u63d0\u4f9b\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u8a3a\u65ad\u30c4\u30fc\u30eb\u3068\u3057\u3066\u4f7f\u7528\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u533b\u7642\u63d0\u4f9b\u8005\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 <\/p>\n\n<p>23andMe\u306f\u30012011\u5e749\u6708\u306b\u767a\u8868\u3055\u308c\u30012012\u5e74\u306b\u4e2d\u6b62\u3055\u308c\u305f\u30d1\u30a4\u30ed\u30c3\u30c8\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u5b9f\u884c\u3057\u307e\u3057\u305f\u3002 \u6d88\u8cbb\u8005\u306f999\u30c9\u30eb\u306e\u8cbb\u7528\u3067\u30a8\u30af\u30bd\u30fc\u30e0\u30c7\u30fc\u30bf\u3092\u5165\u624b\u3067\u304d\u307e\u3059\u3002 \u540c\u793e\u306f\u751f\u30c7\u30fc\u30bf\u3092\u63d0\u4f9b\u3057\u3001\u5206\u6790\u306f\u63d0\u4f9b\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n<ul class=\"wp-block-list\"><li><a href=\"https:\/\/nebula.org\/blog\/ja\/ambry-genetics-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">\u30a2\u30f3\u30d6\u30ea\u30fc\u907a\u4f1d\u5b66<\/a>\u306f\u3001\u81e8\u5e8a\u75be\u60a3\u8a3a\u65ad\u306e\u305f\u3081\u306e\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u30b5\u30fc\u30d3\u30b9\u3092\u63d0\u4f9b\u3057\u305f\u6700\u521d\u306e\u4f1a\u793e\u3067\u3057\u305f\u3002 \u4eca\u65e5\u3001\u9867\u5ba2\u306f\u533b\u7642\u63d0\u4f9b\u8005\u3092\u901a\u3058\u3066\u30c6\u30b9\u30c8\u3092\u6ce8\u6587\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u8cbb\u7528\u306e\u307b\u3068\u3093\u3069\u306f\u4fdd\u967a\u3067\u30ab\u30d0\u30fc\u3055\u308c\u3066\u3044\u307e\u3059\u3002 <\/li><li><a href=\"https:\/\/nebula.org\/blog\/ja\/circledna-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">CircleDNA<\/a>\u81ea\u5b85\u3067WES\u3092189\u30c9\u30eb\u304b\u3089629\u30c9\u30eb\u3067\u63d0\u4f9b\u3057\u3001\u591a\u304f\u306e\u691c\u67fb\u306b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u542b\u307e\u308c\u307e\u3059\u3002 \u3053\u306e\u4f1a\u793e\u3082\u5354\u529b\u3057\u3066\u3044\u307e\u3059<a href=\"https:\/\/nebula.org\/blog\/ja\/dnafit-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">DNAFit<\/a> \u3002 <\/li><li><a href=\"https:\/\/nebula.org\/blog\/ja\/dante-labs-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">\u30c0\u30f3\u30c6\u30e9\u30dc<\/a>WES\u306f849\u30c9\u30eb\u304b\u3089\u3067\u3001\u7af6\u5408\u4ed6\u793e\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u9ad8\u3044\u4fa1\u683c\u3067\u3059\u3002 \u3053\u306e\u4f1a\u793e\u306f\u3001599\u30c9\u30eb\u304b\u3089\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3082\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002 <\/li><li><a href=\"https:\/\/nebula.org\/blog\/ja\/%e3%83%95%e3%83%ab%e3%82%b2%e3%83%8e%e3%83%a0-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">\u30d5\u30eb\u30b2\u30ce\u30e0<\/a>525\u30c9\u30eb\u304b\u3089WES\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002<\/li><li><a href=\"https:\/\/nebula.org\/blog\/ja\/genedx-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">GeneDx<\/a> 2012\u5e74\u306bWES\u306e\u63d0\u4f9b\u3092\u958b\u59cb\u3057\u307e\u3057\u305f\u3002 \u305d\u308c\u3089\u306e\u4fa1\u683c\u306f\u5909\u52d5\u3057\u307e\u3059\u3002<\/li><li><a href=\"https:\/\/nebula.org\/blog\/ja\/%e3%82%89%e3%81%9b%e3%82%93-dna-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">HelixDNA<\/a> WES\u3092145\u30c9\u30eb\u306e\u30ea\u30fc\u30ba\u30ca\u30d6\u30eb\u306a\u4fa1\u683c\u306b\u52a0\u3048\u3066\u3001\u4fbf\u5229\u306a\u30a2\u30d7\u30ea\u306e\u305f\u3081\u306b299\u30c9\u30eb\u3067\u63d0\u4f9b\u3057\u307e\u3059\u3002 <\/li><li>\u4e21\u65b9\u3068\u3082<a href=\"https:\/\/nebula.org\/blog\/ja\/invitae-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">Invitae<\/a> WES\u3068<a href=\"https:\/\/nebula.org\/blog\/ja\/%e7%84%a1%e6%95%b0%e3%81%ae%e9%81%ba%e4%bc%9d%e5%ad%a6-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">\u7121\u6570\u306e\u907a\u4f1d\u5b66<\/a>\u8a3a\u65ad\u30c6\u30b9\u30c8\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002 \u3053\u308c\u3089\u306e\u691c\u67fb\u306f\u8cbb\u7528\u304c\u304b\u304b\u308a\u307e\u3059\u304c\u3001\u4fdd\u967a\u3067\u30ab\u30d0\u30fc\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li><li><a href=\"https:\/\/nebula.org\/blog\/ja\/tellmegen-%e3%83%ac%e3%83%93%e3%83%a5%e3%83%bc\/\">\u30c6\u30eb\u30e1\u30b2\u30f3<\/a>\u75c5\u6c17\u3068\u5065\u5eb7\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u30a8\u30af\u30bd\u30fc\u30e0\u306e\u9078\u629e\u3055\u308c\u305f\u9818\u57df\u3092\u8abf\u3079\u307e\u3059\u3002 \u30c6\u30b9\u30c8\u306e\u8cbb\u7528\u306f235\u30c9\u30eb\u3067\u3059\u3002<\/li><\/ul>\n\n<p>\u3042\u306a\u305f\u306f\u3082\u3063\u3068\u305f\u304f\u3055\u3093\u8aad\u3080\u3053\u3068\u304c\u3067\u304d\u307e\u3059<a target=\"_blank\" href=\"https:\/\/nebula.org\/blog\/ja\/category\/reviews-ja\/\" rel=\"noreferrer 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