{"id":9622,"date":"2021-01-05T23:23:55","date_gmt":"2021-01-06T04:23:55","guid":{"rendered":"https:\/\/nebula.org\/blog\/%e8%a8%ba%e6%96%ad%e3%82%aa%e3%83%87%e3%83%83%e3%82%bb%e3%82%a4%e3%81%ae%e7%b5%82%e3%82%8f%e3%82%8a\/"},"modified":"2021-02-20T20:45:04","modified_gmt":"2021-02-21T01:45:04","slug":"%e8%a8%ba%e6%96%ad%e3%82%aa%e3%83%87%e3%83%83%e3%82%bb%e3%82%a4%e3%81%ae%e7%b5%82%e3%82%8f%e3%82%8a","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/ja\/%e8%a8%ba%e6%96%ad%e3%82%aa%e3%83%87%e3%83%83%e3%82%bb%e3%82%a4%e3%81%ae%e7%b5%82%e3%82%8f%e3%82%8a\/","title":{"rendered":"\u8a3a\u65ad\u30aa\u30c7\u30c3\u30bb\u30a4\u306e\u7d42\u4e86"},"content":{"rendered":"\n<p>\u4e16\u754c\u4e2d\u30673\u51045000\u4e07\u4eba\u304c7,000\u4eba\u306e\u3046\u3061\u306e1\u4eba\u306b\u82e6\u3057\u3093\u3067\u3044\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059<a href=\"https:\/\/www.eurordis.org\/content\/what-rare-disease\">\u5e0c\u5c11\u75be\u60a3<\/a>\u300120\u4e07\u4eba\u672a\u6e80\u306e\u60a3\u8005\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75c5\u6c17\u3067\u3059\u3002 \u5f71\u97ff\u3092\u53d7\u3051\u308b\u4eba\u3005\u306e\u7d0450\uff05\u306f\u5b50\u4f9b\u3067\u3059\u3002 \u901a\u5e38\u3001\u307e\u308c\u306a\u75c5\u6c17\u306e\u8a3a\u65ad\u306b\u306f5\u301c7\u5e74\u304b\u304b\u308a\u3001\u5b50\u4f9b\u3068\u305d\u306e\u5bb6\u65cf\u304c\u5e73\u57477\u4eba\u306e\u7570\u306a\u308b\u533b\u5e2b\u3092\u8a2a\u554f\u3057\u307e\u3059\u3002 \u3053\u306e\u9577\u304f\u3066\u9aa8\u306e\u6298\u308c\u308b\u30d7\u30ed\u30bb\u30b9\u306f\u3001\u300c\u8a3a\u65ad\u30aa\u30c7\u30c3\u30bb\u30a4\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<strong> <\/strong><br\/><\/p>\n\n<h3 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u30aa\u30c7\u30c3\u30bb\u30a4\u6cd5\u306e\u7d42\u4e86<\/strong><\/h3>\n\n<p>\u5e0c\u5c11\u75be\u60a3\u306e\u7d0480\uff05\u306f\u907a\u4f1d\u6027\u3067\u3059\u3002 \u3053\u308c\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u3066\u3001\u9023\u90a6\u653f\u5e9c\u3068\u5dde\u653f\u5e9c\u304c\u30eb\u30fc\u30c1\u30f3\u3092\u63a1\u7528\u3059\u308b\u660e\u78ba\u306a\u30a4\u30f3\u30bb\u30f3\u30c6\u30a3\u30d6\u304c\u3042\u308a\u307e\u3059<a href=\"https:\/\/nebula.org\/blog\/ja\/intro-to-dna-testing-methods\/\">\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WGS\uff09<\/a> \u3001\u7279\u306b\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u75c5\u6c17\u306e\u5b50\u4f9b\u306e\u305f\u3081\u306b\u3001\u81e8\u5e8a\u8a3a\u7642\u306b\u5229\u7528\u3067\u304d\u308b\u6700\u3082\u5305\u62ec\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3002 WGS\u306f\u3001\u30bf\u30a4\u30e0\u30ea\u30fc\u306a\u8a3a\u65ad\u3092\u63d0\u4f9b\u3057\u3001\u6cbb\u7642\u30aa\u30d7\u30b7\u30e7\u30f3\u3092\u660e\u3089\u304b\u306b\u3057\u3001\u5f93\u6765\u306e\u8a3a\u65ad\u30c4\u30fc\u30eb\u304c\u5931\u6557\u3057\u305f\u3068\u304d\u306b\u547d\u3092\u6551\u3046\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<br\/><\/p>\n\n<p>\u3057\u305f\u304c\u3063\u3066\u30012020\u5e741\u67086\u65e5\u3001\u30e1\u30a4\u30f3\u5dde\u306e\u5171\u548c\u515a\u4e0a\u9662\u8b70\u54e1\u30b9\u30fc\u30b6\u30f3\u30fb\u30b3\u30ea\u30f3\u30ba\u3001\u30a2\u30e9\u30d0\u30de\u5dde\u306e\u6c11\u4e3b\u515a\u4e0a\u9662\u8b70\u54e1\u30c0\u30b0\u30fb\u30b8\u30e7\u30fc\u30f3\u30ba\u3001\u30a2\u30ea\u30be\u30ca\u5dde\u306e\u5171\u548c\u515a\u4e0a\u9662\u8b70\u54e1\u30de\u30fc\u30b5\u30fb\u30de\u30af\u30b5\u30ea\u30fc\u3001\u30cb\u30e5\u30fc\u30b8\u30e3\u30fc\u30b8\u30fc\u5dde\u306e\u6c11\u4e3b\u515a\u4e0a\u9662\u8b70\u54e1\u30dc\u30d6\u30fb\u30e1\u30cd\u30f3\u30c7\u30b9\u3092\u542b\u3080\u8d85\u515a\u6d3e\u4e0a\u9662\u8b70\u54e1\u9023\u5408\u304c<a href=\"https:\/\/www.collins.senate.gov\/sites\/default\/files\/Ending%20the%20Diagnostic%20Odyssey%20Act.pdf\">\u8a3a\u65ad\u30aa\u30c7\u30c3\u30bb\u30a4\u6cd5\u306e\u7d42\u4e86<\/a><strong> <\/strong>\u8b70\u4f1a\u306b\u63d0\u51fa\u3055\u308c\u3001\u5236\u5b9a\u3055\u308c\u305f\u5834\u5408\u3001\u5dde\u306f\u30e1\u30c7\u30a3\u30b1\u30a4\u30c9\u306e\u8cc7\u91d1\u3092\u4f7f\u7528\u3057\u3066\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u306e\u5b50\u4f9b\u305f\u3061\u306e\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WGS\uff09\u5206\u6790\u306e\u8cbb\u7528\u3092\u652f\u6255\u3046\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 \u3088\u308a\u5177\u4f53\u7684\u306b\u306f\u3001\u3053\u306e\u6cd5\u6848\u306f\u3001\u30b7\u30fc\u30b1\u30f3\u30b9\u30b3\u30b9\u30c8\u306e75\uff05\u3092\u30ab\u30d0\u30fc\u3059\u308b3\u5e74\u9593\u306e\u30d1\u30a4\u30ed\u30c3\u30c8\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u4f5c\u6210\u3057\u3001\u6b8b\u308a\u306e25\uff05\u3092\u30ab\u30d0\u30fc\u3059\u308b\u3088\u3046\u306b\u5dde\u3092\u5968\u52b1\u3057\u307e\u3059\u3002 \u3053\u306e\u6cd5\u6848\u306f<a href=\"https:\/\/www.congress.gov\/bill\/116th-congress\/house-bill\/4144\/text?r=2&amp;s=1\">\u4e0b\u9662\u306fHR4144\u3092\u8acb\u6c42\u3057\u307e\u3059<\/a>\u30012019\u5e748\u6708\u306b\u5c0e\u5165\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n<h3 class=\"wp-block-heading\"><strong>\u904e\u53bb\u306e\u969c\u5bb3\u3092\u514b\u670d\u3059\u308b<\/strong><\/h3>\n\n<p>\u306a\u305cWGS\u304c\u307e\u3060\u81e8\u5e8a\u73fe\u5834\u3067\u4e3b\u6d41\u306b\u306a\u3063\u3066\u3044\u306a\u3044\u306e\u304b\u7591\u554f\u306b\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002 \u63a1\u7528\u3059\u308b\u3053\u3068\u304c\u7406\u306b\u304b\u306a\u3063\u3066\u3044\u308b\u306e\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u533b\u306e\u9593\u3067\u8b70\u8ad6\u304c\u3042\u308a\u307e\u3057\u305f<a href=\"https:\/\/nebula.org\/blog\/ja\/intro-to-dna-testing-methods\/\">\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\uff09<\/a>\u4ee3\u308f\u308a\u306b\u3002 \u3053\u308c\u306f\u3001\u3059\u3079\u3066\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u30b3\u30fc\u30c9\u907a\u4f1d\u5b50\u3092\u542b\u3080\u3001\u4eba\u306e\u30b2\u30ce\u30e0\u306e\u7d042\uff05\u3092\u914d\u5217\u6c7a\u5b9a\u3057\u3001WGS\u3088\u308a\u3082\u5b89\u4fa1\u3067\u3059\u3002 \u307b\u3093\u306e\u6570\u5e74\u524d\u3001WGS\u306e\u30b3\u30b9\u30c8\u306f\u307b\u307c<a href=\"https:\/\/www.genome.gov\/about-genomics\/fact-sheets\/Sequencing-Human-Genome-cost\">$ 100,000<\/a> \u3002 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\u79c1\u305f\u3061\u304c\u77e5\u3063\u3066\u3044\u308b\u591a\u304f\u306e\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u7a81\u7136\u5909\u7570\u306f\u3001WES\u306b\u3088\u3063\u3066\u6355\u6349\u3055\u308c\u308b\u907a\u4f1d\u5b50\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u30b3\u30fc\u30c9\u9818\u57df\u5185\u306b\u3042\u308b\u305f\u3081\u3001\u591a\u304f\u306e\u81e8\u5e8a\u533b\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u8a3a\u65ad\u306e\u305f\u3081\u306b\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u914d\u5217\u6c7a\u5b9a\u3059\u308b\u3053\u3068\u306f\u307e\u3060\u610f\u5473\u304c\u306a\u3044\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002 \u3057\u304b\u3057\u3001\u907a\u4f1d\u5b66\u8005\u306f\u306e\u6a5f\u80fd\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u9014\u65b9\u3082\u306a\u3044\u9032\u6b69\u3092\u9042\u3052\u3066\u3044\u307e\u3059<a href=\"https:\/\/www.scientificamerican.com\/article\/hidden-treasures-in-junk-dna\/\">\u30ce\u30f3\u30b3\u30fc\u30c7\u30a3\u30f3\u30b0\u30b2\u30ce\u30e0\u9818\u57df<\/a>\u305d\u3057\u3066\u5f7c\u3089\u304c\u75c5\u6c17\u3067\u679c\u305f\u3059\u5f79\u5272\u3002<\/p>\n\n<h3 class=\"wp-block-heading\"><strong>\u60a3\u8005\u306e\u751f\u6d3b\u3092\u5909\u3048\u308b<\/strong><\/h3>\n\n<p>\u6a19\u6e96\u6cbb\u7642\u306b\u5bfe\u3059\u308bWGS\u306e\u5229\u70b9\u3092\u5f37\u8abf\u3059\u308b\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002 \u30ab\u30ea\u30d5\u30a9\u30eb\u30cb\u30a2\u5dde\u30b5\u30f3\u30c7\u30a3\u30a8\u30b4\u306b\u3042\u308bRadyChildren&#8217;s Institute for Genomic Medicine<a href=\"https:\/\/www.radygenomics.org\/2018\/06\/15\/wgs-helps-diagnosis-and-reduces-healthcare-costs-for-neonates-in-intensive-care\/\"> 1\u6b73\u672a\u6e80\u306e363\u4eba\u306e\u5165\u9662\u60a3\u8005\u306b\u5bfe\u3057\u3066\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u5b9f\u884c<\/a>\u300196\u6642\u9593\u4ee5\u5185\u306b\u3053\u308c\u3089\u306e\u5b50\u4f9b\u305f\u3061\u306e\u7d0434\uff05\u306e\u8a3a\u65ad\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002 \u3053\u308c\u306b\u3088\u308a\u3001\u8a3a\u65ad\u3055\u308c\u305f\u5b50\u4f9b\u306e67\uff05\u306e\u533b\u7642\u304c\u8abf\u6574\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n<p>\u3057\u304b\u3057\u3001\u4eca\u65e5\u307e\u3067\u3001\u5e0c\u5c11\u75be\u60a3\u306e95\uff05\u306b\u306f\u307e\u3060\u6cbb\u7642\u306e\u9078\u629e\u80a2\u304c\u306a\u304f\u3001\u6e80\u305f\u3055\u308c\u3066\u3044\u306a\u3044\u91cd\u8981\u306a\u30cb\u30fc\u30ba\u304c\u6d6e\u304d\u5f6b\u308a\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002 \u306e\u3088\u3046\u306a\u52aa\u529b\u304c\u3042\u308a\u307e\u3059<a href=\"https:\/\/raregenomes.org\/home\">\u30ec\u30a2\u30b2\u30ce\u30e0\u30d7\u30ed\u30b8\u30a7\u30af\u30c8<\/a>\u3001MIT\u3068\u30cf\u30fc\u30d0\u30fc\u30c9\u306e\u30d6\u30ed\u30fc\u30c9\u7814\u7a76\u6240\u304c\u4e3b\u5c0e\u3059\u308b\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6\u3067\u3042\u308a\u3001\u672a\u8a3a\u65ad\u306e\u907a\u4f1d\u6027\u75be\u60a3\u304c\u7591\u308f\u308c\u308b1,000\u4eba\u306e\u60a3\u8005\u3068\u5bb6\u65cf\u3092\u52df\u96c6\u3057\u3001\u6cbb\u7642\u30aa\u30d7\u30b7\u30e7\u30f3\u3092\u958b\u767a\u3059\u308b\u305f\u3081\u306e\u3088\u308a\u591a\u304f\u306e\u8a3a\u65ad\u3068\u624b\u6bb5\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u3092\u671f\u5f85\u3057\u3066\u3044\u307e\u3059\u3002 \u5b9f\u969b\u3001\u907a\u4f1d\u75c5\u306e\u6cbb\u7642\u6cd5\u304c\u3059\u3050\u306b\u5229\u7528\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.fda.gov\/news-events\/press-announcements\/statement-fda-commissioner-scott-gottlieb-md-and-peter-marks-md-phd-director-center-biologics\"> \u98df\u54c1\u533b\u85ac\u54c1\u5c40\uff08FDA\uff09\u306f\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u958b\u767a\u3092\u5968\u52b1\u3057\u3001\u627f\u8a8d\u3092\u52a0\u901f\u3059\u308b\u3053\u3068\u3092\u76ee\u6307\u3057\u3066\u3044\u307e\u3059\u3002<\/a> \u3057\u304b\u3057\u3001\u6cbb\u7642\u306e\u9078\u629e\u80a2\u304c\u306a\u304f\u3066\u3082\u3001\u8a3a\u65ad\u30aa\u30c7\u30c3\u30bb\u30a4\u306e\u7d42\u4e86\u306f\u3001\u307b\u3068\u3093\u3069\u306e\u5e0c\u5c11\u75be\u60a3\u60a3\u8005\u306b\u3068\u3063\u3066\u5b89\u5fc3\u3067\u3059\u3002 \u3055\u3089\u306b\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5bb6\u65cf\u306f\u540c\u3058\u95d8\u4e89\u306b\u53d6\u308a\u7d44\u3093\u3067\u3044\u308b\u4ed6\u306e\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<p>Nebula 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