{"id":8577,"date":"2021-06-25T10:19:59","date_gmt":"2021-06-25T01:19:59","guid":{"rendered":"http:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/?p=8577"},"modified":"2021-07-06T13:06:11","modified_gmt":"2021-07-06T04:06:11","slug":"epilepsy_ngs_gsd_ts_1","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/learning-at-the-bench\/epilepsy_ngs_gsd_ts_1\/","title":{"rendered":"\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u7528\u3044\u305f\u3066\u3093\u304b\u3093\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u4f4e\u983b\u5ea6\u5909\u7570\u306e\u691c\u51fa"},"content":{"rendered":"<p><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-8579 alignleft\" src=\"http:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2021\/01\/image1-152x300.jpg\" alt=\"\" width=\"128\" height=\"252\" srcset=\"https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2021\/01\/image1-152x300.jpg 152w, https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2021\/01\/image1.jpg 331w\" sizes=\"auto, (max-width: 128px) 100vw, 128px\" \/><\/p>\n<p>\u3066\u3093\u304b\u3093\u306f\u907a\u4f1d\u7684\u306a\u5f71\u97ff\u304c\u5f37\u3044\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u307e\u3067\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059[1] \u3002\u305f\u3068\u3048\u3070\u3001SCN1A \u306b\u304a\u3051\u308b\u5909\u7570\u306f\u3001\u826f\u6027\u306e\u71b1\u6027\u3051\u3044\u308c\u3093\u304b\u3089\u3088\u308a\u91cd\u5ea6\u306a\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u307e\u3067\u3001\u5e45\u5e83\u3044\u91cd\u75c7\u5ea6\u306e\u81e8\u5e8a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u3053\u3068\u306f\u3001\u7279\u306b\u5909\u7570\u304c\u3069\u306e\u3088\u3046\u306b\u4f1d\u9054\u3055\u308c\u308b\u306e\u304b\u304c\u4e0d\u660e\u306a\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u3092\u96e3\u3057\u304f\u3057\u3066\u3044\u307e\u3059\u3002\u6563\u767a\u7684\u306b\u751f\u3058\u308b\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u304c\u80da\u767a\u751f\u6642\u306b\u751f\u3058\u3001\u751f\u6b96\u7d30\u80de\u7cfb\u3067\u306e\u4f1d\u9054\u3092\u4ecb\u3055\u306a\u3044 de novo \u5909\u7570\u3067\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u25bc\u3053\u3093\u306a\u65b9\u306b\u304a\u3059\u3059\u3081\u3067\u3059\uff01<br \/>\n\u30fb\u3066\u3093\u304b\u3093\u7814\u7a76\u306b\u8208\u5473\u306e\u3042\u308b\u65b9<br \/>\n\u30fb\u907a\u4f1d\u6027\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u305f\u3044\u65b9<br \/>\n\u30fb\u4f4e\u983b\u5ea6\u306a\u5909\u7570\u3092\u691c\u51fa\u3057\u305f\u3044\u65b9<\/p>\n<h2>Ion AmpliSeq\u2122 On-Demand \u30d1\u30cd\u30eb\u3092\u7528\u3044\u305f\u5909\u7570\u89e3\u6790<\/h2>\n<p>\u30c7\u30f3\u30de\u30fc\u30af\u306b\u3042\u308bAmplexa Genetics \u306e\u7814\u7a76\u8005\u306f\u6563\u767a\u7684\u306a\u3066\u3093\u304b\u3093\u306e\u91cd\u75c7\u4f8b\u306b\u3064\u3044\u3066\u7814\u7a76\u3057\u3066\u3044\u307e\u3059\u3002\u5f7c\u3089\u306e\u7d50\u679c\u306f\u3001\u5b64\u767a\u6027\u306e\u3066\u3093\u304b\u3093\u306f\u5b9f\u969b\u306b\u306f de novo \u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u306b\u3088\u3063\u3066\u4e21\u89aa\u304b\u3089\u4f1d\u9054\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u3092\u793a\u5506\u3059\u308b\u3068\u898b\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u3068\u306f\u3001\u5358\u4e00\u306e\u53d7\u7cbe\u5375\u304b\u3089\u767a\u751f\u3057\u305f\u500b\u4f53\u5185\u3067\u3001\u7570\u306a\u308b\u907a\u4f1d\u5b50\u578b\u3092\u3082\u3064\u7d30\u80de\u304c2\u3064\u4ee5\u4e0a\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n<p>Amplexa \u306e\u7814\u4fee\u8005\u3067\u3042\u308bM.Sc. Line Larsen \u306f\u30012018\u5e74\u306eESHG (European Society of Human Genetics) \u306b\u304a\u3044\u3066\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u3067deep sequence \u3092\u884c\u3046\u3053\u3068\u306b\u3088\u308ade novo \u5909\u7570\u3092\u3082\u3064\u60a3\u800546\u540d\u306e\u89aa\u306e\u907a\u4f1d\u5b50\u578b\u3092\u8abf\u67fb\u3057\u305f\u521d\u671f\u306e\u7814\u7a76\u3092\u767a\u8868\u3057\u307e\u3057\u305f\u3002\u5f7c\u3089\u306f\u3001Ion PGM\u2122 system \u3067<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/next-generation-sequencing\/ion-torrent-next-generation-sequencing-workflow\/ion-torrent-next-generation-sequencing-select-targets\/ampliseq-target-selection\/ion-ampliseq-on-demand-panels-targeted-sequencing.html?cid=csd_cdx_sbu_r04_jp_cp1445_pjt7149_csd00000_0so_blg_op_awa_og_s00_ngs48_Social_LAB\" target=\"_blank\" rel=\"noopener\">Ion AmpliSeq\u2122 On-Demand \u30d1\u30cd\u30eb<\/a>\u3092\u4f7f\u7528\u3057\u3066\u65e2\u77e5\u306e\u3066\u3093\u304b\u3093\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u542b\u308012\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u3057\u307e\u3057\u305f\u3002\u5e73\u5747\u30ea\u30fc\u30c9\u30c7\u30d7\u30b9\u30926,600 \u30ab\u30d0\u30ec\u30c3\u30b8 \u53d6\u5f97\u3059\u308b\u3053\u3068\u3067\u3001\u901a\u5e38\u306e\u5168\u30a8\u30af\u30bd\u30f3\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u624b\u6cd5\u3088\u308a\u3082\u8a73\u7d30\u306b\u5bb6\u65cf\u9593\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u8abf\u3079\u308b\u3053\u3068\u306b\u6210\u529f\u3057\u307e\u3057\u305f\u3002<\/p>\n<h2>Ion AmpliSeq\u2122 HD \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3092\u7528\u3044\u305f deep sequence \u306b\u3088\u308a\u3001\u4f4e\u983b\u5ea6\u306a\u5909\u7570\u3092\u691c\u51fa<\/h2>\n<p>de novo \u5909\u7570\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3066\u3093\u304b\u3093\u95a2\u9023\u5909\u757046\u4f8b\u4e2d4\u4f8b\u3067\u3001\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u304c\u691c\u51fa\u3055\u308c\u307e\u3057\u305f\u3002\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u306e\u5272\u5408\u306f\u3001\u8abf\u67fb\u3057\u305f\u4e21\u89aa\u9593\u30670.8% \u304b\u3089 29% \u3068\u5927\u304d\u304f\u7570\u306a\u3063\u3066\u3044\u307e\u3057\u305f\u3002\u3042\u308b\u7236\u89aa\u306f\u3001\u6700\u3082\u6975\u7aef\u306a\u30b1\u30fc\u30b9\u3067\u3042\u308b\u306b\u3082\u95a2\u308f\u3089\u305a\u3001\u8efd\u5ea6\u306a\u75c7\u72b6\u3092\u793a\u3057\u307e\u3057\u305f\u3002<br \/>\n<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/next-generation-sequencing\/ion-torrent-next-generation-sequencing-workflow\/ion-torrent-next-generation-sequencing-select-targets\/ampliseq-target-selection.html.html?cid=csd_cdx_sbu_r04_jp_cp1445_pjt7149_csd00000_0so_blg_op_awa_og_s00_ngs48_Social_LAB\" target=\"_blank\" rel=\"noopener\">Ion AmpliSeq\u2122\u3000\u30c6\u30af\u30ce\u30ed\u30b8\u30fc<\/a>\u306fPCR\u30d9\u30fc\u30b9\u306e\u5897\u5e45\u65b9\u6cd5\u3092\u4f7f\u7528\u3057\u3066\u3044\u307e\u3059\u3002Amplexa\u306e\u30e9\u30dc\u3067\u306f\u3001\u30e2\u30b6\u30a4\u30af\u5909\u7570\u304c\u30e9\u30a4\u30d6\u30e9\u30ea\u8abf\u88fd\u6642\u306ePCR\u30a8\u30e9\u30fc\u306b\u7591\u308f\u308c\u308b\u53ef\u80fd\u6027\u3092\u6392\u9664\u3057\u305f\u3044\u3068\u8003\u3048\u307e\u3057\u305f\u3002<br \/>\n\u305d\u306e\u305f\u3081\u306b\u3001\u5f7c\u3089\u306f<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/next-generation-sequencing\/ion-torrent-next-generation-sequencing-workflow\/ion-torrent-next-generation-sequencing-select-targets\/ion-ampliseq-hd-technology.html?cid=csd_cdx_sbu_r04_jp_cp1445_pjt7149_csd00000_0so_blg_op_awa_og_s00_ngs48_Social_LAB\" target=\"_blank\" rel=\"noopener\">Ion AmpliSeq\u2122 HD\u30c6\u30af\u30ce\u30ed\u30b8\u30fc<\/a>\u3092\u4f7f\u7528\u3057\u3066\u518d\u5ea6\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u884c\u3044\u3001\u524d\u8ff0\u306e\u5bb6\u65cf\u9593\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u89e3\u6790\u3057\u307e\u3057\u305f\u3002Ion AmpliSeq HD\u2122 \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u306f\u3001Ion AmpliSeq\u2122 \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3068\u306f\u72ec\u7acb\u3057\u305f\u624b\u6cd5\u3067\u3001\u5206\u5b50\u30bf\u30b0\u6280\u8853\u3092\u4f7f\u7528\u3057\u3066\u3001PCR\u306b\u8d77\u56e0\u3059\u308b\u554f\u984c\u3092\u6392\u9664\u3057\u307e\u3059\u3002\u65b0\u3057\u3044Ion AmpliSeq HD\u2122 \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u306f\u3001\u30b2\u30ce\u30e0DNA \u306b\u542b\u307e\u308c\u308b\u5909\u7570\u3092\u983b\u5ea60.1% \u307e\u3067\u691c\u51fa\u3067\u304d\u3001\u975e\u5e38\u306b\u691c\u51fa\u4e0b\u9650 (LOD) \u304c\u4f4e\u3044\u3068\u3044\u3046\u5229\u70b9\u304c\u3042\u308a\u307e\u3059\u3002\u5f7c\u3089\u306f<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/next-generation-sequencing\/ion-torrent-next-generation-sequencing-workflow\/ion-torrent-next-generation-sequencing-run-sequence\/ion-s5-ngs-targeted-sequencing.html?cid=csd_cdx_sbu_r04_jp_cp1445_pjt7149_csd00000_0so_blg_op_awa_og_s00_ngs48_Social_LAB\" target=\"_blank\" rel=\"noopener\">Ion GeneStudio\u2122 S5 Prime \u30b7\u30b9\u30c6\u30e0<\/a>\u3067Ion 550\u2122 chip \u3092\u4f7f\u7528\u3057\u3066\u3001Ion AmpliSeq HD\u2122 \u3092\u7528\u3044\u305f\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u884c\u3044\u307e\u3057\u305f\u3002<br \/>\nIon AmpliSeq\u2122 On-Demand\u30d1\u30cd\u30eb\u3092\u7528\u3044\u305f\u7d50\u679c\u3068\u540c\u69d8\u306b\u3001Ion AmpliSeq\u2122 HD\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u306b\u3088\u308a\u3001\u8abf\u67fb\u3057\u305f\u75c7\u4f8b\u306e\u3046\u30619%\u304c\u3001\u89aa\u306e\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u3068\u4e00\u81f4\u3059\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f (\u56f31)\u3002<img loading=\"lazy\" decoding=\"async\" class=\"aligncenter size-full wp-image-8578\" src=\"http:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2021\/01\/image2.png\" alt=\"\" width=\"992\" height=\"215\" srcset=\"https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2021\/01\/image2.png 992w, https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2021\/01\/image2-300x65.png 300w, https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2021\/01\/image2-768x166.png 768w\" sizes=\"auto, (max-width: 992px) 100vw, 992px\" \/><br \/>\n\u56f31 \u89aa\u306e\u30b2\u30ce\u30e0DNA \u306b\u304a\u3044\u3066\u30ec\u30a2\u306a\u5909\u7570\u3092\u793a\u3059\u3066\u3093\u304b\u3093\u95a2\u9023de novo \u5909\u75704\u4f8b\u306e\u30b7\u30fc\u30b1\u30f3\u30b9\u7d50\u679c\u3002Ion AmpliSeq\u2122 \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3092\u7528\u3044\u305f\u7d50\u679c\u3068Ion AmpliSeq\u2122 HD\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3092\u7528\u3044\u305f\u7d50\u679c\u306b\u306f\u76f8\u95a2\u304c\u3042\u308a\u307e\u3057\u305f\u3002<\/p>\n<h2>\u3066\u3093\u304b\u3093\u95a2\u9023\u907a\u4f1d\u5b50\u89e3\u6790\u306e\u5c55\u671b<\/h2>\n<p>\u300cIon AmpliSeq\u2122 On-Demand \u30d1\u30cd\u30eb\u3068\u540c\u69d8\u306b\u3001Ion AmpliSeq\u2122 HD \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u306f\u3001\u30ab\u30b9\u30bf\u30e0\u30d1\u30cd\u30eb\u306e\u8a2d\u8a08\u304c\u7c21\u5358\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001wet \u30e9\u30dc\u3067\u306e\u4f5c\u696d\u306f\u8fc5\u901f\u304b\u3064\u7c21\u5358\u3067\u3001\u30b5\u30f3\u30d7\u30eb\u62bd\u51fa\u304b\u3089\u308f\u305a\u304b3\u65e5\u3067\u7d50\u679c\u3092\u53d6\u5f97\u53ef\u80fd\u3067\u3059\u30020.1% \u306eLOD \u3092\u5f97\u308b\u306b\u306f50,000 \u30ab\u30d0\u30ec\u30c3\u30b8\u306e\u6df1\u3044\u30ea\u30fc\u30c9\u30c7\u30d7\u30b9\u304c\u5fc5\u8981\u3067\u30010.5% \u306eLOD \u306e\u5834\u5408\u306b\u306f\u300115,000 \u30ea\u30fc\u30c9\u304c\u5fc5\u8981\u3067\u3059\u3002\u300d\u3068Line Larsen \u6c0f\u306f\u8ff0\u3079\u3066\u3044\u307e\u3059\u3002<br \/>\n\u5f7c\u3089\u306f\u3001\u3053\u306e\u65b0\u3057\u3044\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3092\u4f7f\u7528\u3057\u3066\u3001\u4ee5\u524d\u306b\u691c\u51fa\u3055\u308c\u305f\u5909\u7570\u306e\u3059\u3079\u3066\u30920.2% \u306eLOD \u3067\u691c\u51fa\u3059\u308b\u3053\u3068\u306b\u6210\u529f\u3057\u307e\u3057\u305f\u3002\u5f7c\u3089\u306e\u767a\u898b\u306f\u3001\u89aa\u306e\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u304c\u65e9\u671f\u767a\u75c7\u578b\u306e\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306b\u304a\u3051\u308b\u907a\u4f1d\u7684\u306a\u4f1d\u9054\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u3042\u308a\u3001\u8907\u6570\u306e\u7570\u306a\u308b\u907a\u4f1d\u5b50\u3067\u8d77\u3053\u308a\u3046\u308b\u3053\u3068\u3092\u88cf\u4ed8\u3051\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<br \/>\n\u307e\u305f\u3001\u5f7c\u3089\u306fIon AmpliSeq\u2122 HD \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3092\u4f7f\u7528\u3057\u305f\u7814\u7a76\u3092\u7d9a\u3051\u3066\u304a\u308a\u3001\u3053\u306e\u9ad8\u611f\u5ea6\u306a\u30e9\u30a4\u30d6\u30e9\u30ea\u8abf\u88fd\u6cd5\u3067\u3055\u3089\u306b\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u3092\u767a\u898b\u3067\u304d\u308b\u304b\u691c\u8a0e\u3092\u3057\u3066\u3044\u307e\u3059\u3002<br \/>\n\u300c\u4eca\u5ea6\u306f\u3001\u7570\u306a\u308b\u7d44\u7e54\u304b\u3089DNA\u3092\u62bd\u51fa\u3057\u3066\u30b5\u30f3\u30d7\u30eb\u3092\u53ce\u96c6\u3057\u3001\u4ee5\u524d\u306f\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u3092\u691c\u51fa\u3067\u304d\u308b\u304b\u691c\u8a0e\u3059\u308b\u89e3\u6790\u3092\u884c\u3044\u305f\u3044\u3068\u601d\u3063\u3066\u3044\u307e\u3059\u3002\u65b0\u305f\u306b\u691c\u51fa\u3055\u308c\u305f\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u306f\u3001\u4ee3\u66ff\u6280\u8853 (ddPCR) \u3067\u691c\u8a3c\u3057\u3001de novo \u5909\u7570\u3092\u3082\u3064\u591a\u304f\u306e\u60a3\u8005\u306e\u89aa\u3092\u5206\u6790\u3057\u307e\u3059\u3002\u300d\u3068Larsen \u306f\u7d50\u8ad6\u4ed8\u3051\u307e\u3057\u305f\u3002<\/p>\n<h2>\u307e\u3068\u3081<\/h2>\n<p>\u3066\u3093\u304b\u3093\u306b\u304a\u3051\u308b\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u3068\u4f4e\u983b\u5ea6\u306a\u5909\u7570\u3092\u89e3\u6790\u3059\u308bIon AmpliSeq HD \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u306b\u3064\u3044\u3066\u3088\u308a\u77e5\u308a\u305f\u3044\u5834\u5408\u306f\u3001Amplexa \u304c\u7814\u7a76\u3092\u7d39\u4ecb\u3059\u308b<a href=\"https:\/\/www.genomeweb.com\/resources\/webinars\/advances-ngs-ultra-high-sensitivity-applications-translational-and-clinical\" target=\"_blank\" rel=\"noopener\">Web\u30bb\u30df\u30ca\u30fc<\/a>\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<br \/>\nIon AmpliSeq\u2122 On-Dmand\u30d1\u30cd\u30eb\u306e\u8a73\u7d30\u306f\u3001<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/next-generation-sequencing\/ion-torrent-next-generation-sequencing-workflow\/ion-torrent-next-generation-sequencing-select-targets\/ampliseq-target-selection.html?cid=csd_cdx_sbu_r04_jp_cp1445_pjt7149_csd00000_0so_blg_op_awa_og_s00_ngs48_Social_LAB\" target=\"_blank\" rel=\"noopener\">\u3053\u3053\u304b\u3089<\/a>\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u30d2\u30c8\u306e\u907a\u4f1d\u5b66\u306b\u304a\u3051\u308b\u5909\u7570\u89e3\u6790\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/sequencing-applications\/complex-disease\/human-genetics-research.html?CID=csd_cdx_sbu_r04_jp_cp1445_pjt7149_csd00000_0so_blg_op_awa_og_s00_ngs48_Social_LAB\" target=\"_blank\" rel=\"noopener\">\u3053\u3061\u3089<\/a>\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<br \/>\nIon AmpliSeq\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u306f\u30d6\u30ed\u30b0\u300c<a href=\"https:\/\/www.thermofisher.com\/blog\/learning-at-the-bench\/ampliseq_ngs_gsd_ts_1\/?cid=csd_cdx_sbu_r04_jp_cp1445_pjt7149_csd00000_0so_blg_op_awa_og_s00_ngs48_Social_LAB\" target=\"_blank\" rel=\"noopener\">\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u304c\u308f\u304b\u308b\uff01Ion AmpliSeq \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u306e\u3059\u3079\u3066<\/a>\u300d\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n<h2>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\uff08NGS\uff09\u5165\u9580<\/h2>\n<p>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u539f\u7406\u3084\u4f55\u304c\u3067\u304d\u308b\u304b\u304c\u3088\u304f\u308f\u304b\u3089\u306a\u3044\u3001\u307e\u305f\u306f\u81ea\u5206\u306e\u7814\u7a76\u9818\u57df\u306b\u3069\u306e\u3088\u3046\u306b\u6d3b\u7528\u3067\u304d\u308b\u304b\u308f\u304b\u3089\u306a\u3044\u3068\u3044\u3046\u65b9\u5411\u3051\u306b\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u57fa\u672c\u3084\u5404\u7814\u7a76\u9818\u57df\u306b\u7279\u5316\u3057\u305f\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002\u30ea\u30f3\u30af\u5148\u304b\u3089\u3001\u305d\u308c\u305e\u308c\u306e\u9818\u57df\u306b\u5fdc\u3058\u305f\u30da\u30fc\u30b8\u3092\u3054\u89a7\u3044\u305f\u3060\u3051\u307e\u3059\u3002<\/p>\n<p><a class=\"btn btn-red\" href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/next-generation-sequencing\/ngs-basics.html?cid=csd_cdx_sbu_r04_jp_cp1445_pjt7149_csd00000_0so_blg_op_awa_og_s00_ngs48_Social_LAB\" target=\"_blank\" rel=\"noopener noreferrer\">\u8a73\u7d30\u3092\u898b\u308b<\/a><\/p>\n<p>\u300c\u30e2\u30b6\u30a4\u30af\u5909\u7570\u3092\u3082\u3064\u89aa\u304b\u3089\u306e\u5909\u7570\u4f1d\u9054\u3092\u8abf\u3079\u308b\u8d85\u9ad8\u611f\u5ea6\u306a\u30bf\u30fc\u30b2\u30c3\u30c8NGS \u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u306e\u4f7f\u7528\u300d\u306f\u30012018 \u5e746\u6708\u306eESHG \u3067\u30c7\u30f3\u30de\u30fc\u30af\u306eLine H.G. Larsen, M.Sc., Amplexa Genetics A\/S, \u306b\u3088\u308a\u767a\u8868\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n<h2>\u53c2\u8003\u6587\u732e<\/h2>\n<div>[1] . Thomas &amp; Berkovic (2014)<\/div>\n<div><\/div>\n<div><\/div>\n<div>\u7814\u7a76\u7528\u306b\u306e\u307f\u4f7f\u7528\u3067\u304d\u307e\u3059\u3002\u8a3a\u65ad\u7528\u306b\u306f\u4f7f\u7528\u3044\u305f\u3060\u3051\u307e\u305b\u3093\u3002<\/div>\n","protected":false},"excerpt":{"rendered":"<p>\u3066\u3093\u304b\u3093\u306f\u907a\u4f1d\u7684\u306a\u5f71\u97ff\u304c\u5f37\u3044\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u307e\u3067\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059[1] \u3002\u305f\u3068\u3048\u3070\u3001SCN1A \u306b\u304a\u3051\u308b\u5909\u7570\u306f\u3001\u826f\u6027\u306e\u71b1\u6027\u3051\u3044\u308c\u3093\u304b\u3089\u3088\u308a\u91cd\u5ea6\u306a\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u307e\u3067\u3001\u5e45\u5e83\u3044\u91cd\u75c7\u5ea6\u306e<\/p>\n","protected":false},"author":975,"featured_media":9657,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_kad_blocks_custom_css":"","_kad_blocks_head_custom_js":"","_kad_blocks_body_custom_js":"","_kad_blocks_footer_custom_js":"","_monsterinsights_skip_tracking":false,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[156],"tags":[165],"division":[],"class_list":{"0":"post-8577","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-mol-bio","8":"tag-ngs","9":"entry"},"_selected_authors":"","_selected_reviewers":"","acf":[],"yoast_head":"<!-- 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