{"id":1385,"date":"2018-10-23T00:00:00","date_gmt":"2018-10-22T15:00:00","guid":{"rendered":"https:\/\/www.thermofisher.com\/blog\/learning-at-the-bench\/user_voice_46_1_seqstudio\/"},"modified":"2025-02-28T10:52:50","modified_gmt":"2025-02-28T01:52:50","slug":"user_voice_46_1_seqstudio","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/learning-at-the-bench\/user_voice_46_1_seqstudio\/","title":{"rendered":"\u300c\u5e0c\u5c11\u30fb\u672a\u8a3a\u65ad\u75be\u60a3\u300d\u7814\u7a76\u306b\u30b2\u30ce\u30e0\u89e3\u6790\u3067\u6311\u3080 \uff08\u540d\u53e4\u5c4b\u5e02\u7acb\u5927\u5b66 \u65b0\u751f\u5150\u30fb\u5c0f\u5150\u533b\u5b66\u5206\u91ce \u9f4b\u85e4\u4f38\u6cbb\u6c0f\uff09-\u300cNEXT\u300d2018\u5e747\u6708\u53f7\u63b2\u8f09"},"content":{"rendered":"

\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u3068Seq Studio Genetic Analyzer\u3092\u52b9\u7387\u7684\u306b\u6d3b\u7528<\/span><\/h2>\n

\u9f4b\u85e4\u4f38\u6cbb\u6c0f\uff08\u540d\u53e4\u5c4b\u5e02\u7acb\u5927\u5b66\u533b\u5b66\u7814\u7a76\u79d1\u65b0\u751f\u5150\u30fb\u5c0f\u5150\u533b\u5b66\u5206\u91ce\u6559\u6388\uff09<\/strong><\/p>\n

\"\u9f4b\u85e4\u4f38\u6cbb\u6c0f\uff08\u540d\u53e4\u5c4b\u5e02\u7acb\u5927\u5b66\u533b\u5b66\u7814\u7a76\u79d1\u65b0\u751f\u5150\u30fb\u5c0f\u5150\u533b\u5b66\u5206\u91ce\u6559\u6388\uff09\"<\/a><\/p>\n

\u300c\u5c0f\u5150\u306e\u795e\u7d4c\u75be\u60a3\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u3092\u9577\u3089\u304f\u884c\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u7279\u306b\u539f\u56e0\u4e0d\u660e\u3067\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u75be\u60a3\uff08\u672a\u8a3a\u65ad\u75be\u60a3\uff09\u3084\u5e0c\u5c11\u3086\u3048\u306b\u8a3a\u65ad\u56f0\u96e3\u306a\u75be\u60a3\uff08\u5e0c\u5c11\u75be\u60a3\uff09\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3057\u3001\u305d\u306e\u80cc\u666f\u3068\u306a\u308b\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u89e3\u660e\u306b\u53d6\u308a\u7d44\u3093\u3067\u304d\u307e\u3057\u305f\u300d\u3068\u8a9e\u308b\u540d\u53e4\u5c4b\u5e02\u7acb\u5927\u5b66\u6559\u6388\u306e\u9f4b\u85e4\u4f38\u6cbb\u6c0f\u3002\u5e0c\u5c11\u672a\u8a3a\u65ad\u75be\u60a3\u3092\u5bfe\u8c61\u306b\u907a\u4f1d\u5b50\u691c\u67fb\u4f53\u5236\u306e\u69cb\u7bc9\u3092\u76ee\u6307\u3057\u3001\u65e5\u672c\u533b\u7642\u7814\u7a76\u958b\u767a\u6a5f\u69cb\u304c\u9032\u3081\u308bIRUD\uff08\u672a\u8a3a\u65ad\u75be\u60a3\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6\uff09\u306b\u53c2\u753b\u3057\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\uff08NGS\uff09\u3092\u7528\u3044\u305f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u3068\u30d1\u30cd\u30eb\u89e3\u6790\u3001\u305d\u3057\u3066\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3001\u7cbe\u529b\u7684\u306b\u7814\u7a76\u3092\u9032\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u9f4b\u85e4\u6c0f\uff08\u5199\u771f\u53f3\uff09\u3068\u5927\u5b66\u9662\u751f\u306e\u5bb6\u7530\u5927\u8f14\u533b\u5e2b\uff08\u5199\u771f\u5de6\uff09<\/span><\/p>\n

\u5e0c\u5c11\u30fb\u672a\u8a3a\u65ad\u75be\u60a3\u7814\u7a76\u306b\u304a\u3051\u308b\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u306e\u5f79\u5272<\/span><\/h2>\n

\u300cNGS\u306e\u767b\u5834\u306b\u3088\u308a\u3001\u5e0c\u5c11\u672a\u8a3a\u65ad\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u306f\u98db\u8e8d\u7684\u306b\u5897\u3048\u3066\u3044\u307e\u3059\u3002IRUD\u3067\u3082\u672a\u8a3a\u65ad\u75be\u60a3\u306e\u7d043\u5272\u306b\u5bfe\u3057\u3066\u75be\u60a3\u539f\u56e0\u306b\u95a2\u3059\u308b\u60c5\u5831\u3092\u63d0\u4f9b\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u3082\u3061\u308d\u3093\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3082\u3001\u5fc5\u305a\u3057\u3082\u52b9\u679c\u7684\u306a\u6cbb\u7642\u6cd5\u304c\u3042\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u304c\u3001\u305d\u306e\u5206\u5b50\u57fa\u76e4\u304c\u660e\u3089\u304b\u306b\u306a\u308b\u3053\u3068\u3067\u75be\u60a3\u6982\u5ff5\u3092\u6574\u7406\u3067\u304d\u308b\u3053\u3068\u306f\u5927\u304d\u306a\u9032\u6b69\u3067\u3059\u3002\u6b63\u3057\u304f\u77e5\u308b\u3053\u3068\u306f\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u300d\u3068\u7814\u7a76\u306e\u610f\u7fa9\u3092\u8aac\u660e\u3057\u307e\u3059\u3002\u9f4b\u85e4\u6c0f\u3089\u306f\u3001\u6628\u5e74\u3001\u5e0c\u5c11\u672a\u8a3a\u65ad\u75be\u60a3\u306e\u3072\u3068\u3064\u3067\u3042\u308bVici\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3059\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u95a2\u9023\u907a\u4f1d\u5b50EPG5<\/span>\u306e\u5909\u7570\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u3068\u6a5f\u80fd\u89e3\u6790\u3092\u5831\u544a\u3057\u307e\u3057\u305f\u203b<\/sup>\u3002\u300c\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5206\u5b50\u57fa\u76e4\u304c\u5206\u304b\u308c\u3070\u75c7\u72b6\u3068\u306e\u95a2\u9023\u6027\u3092\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u6bce\u56de\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u884c\u308f\u306a\u304f\u3066\u3082\u9ad8\u3044\u7cbe\u5ea6\u3067\u8a3a\u65ad\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3067\u3066\u304d\u307e\u3059\u300d\u3068\u8a71\u3057\u307e\u3059\u3002\u3053\u306e\u7814\u7a76\u3067\u306f\u3001NGS\u306b\u3088\u308b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u7d50\u679c\u304b\u3089\u5019\u88dc\u907a\u4f1d\u5b50\u7fa4\u3092\u7d5e\u308a\u8fbc\u307f\u3001\u305d\u306e\u60c5\u5831\u3092\u57fa\u306bIon AmpliSeq\u2122 \u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3068Ion PGM\u2122\u30b7\u30b9\u30c6\u30e0\u3067\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u5b9f\u65bd\u3057\u3066\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3057\u307e\u305f\u3002\u300c\u8ad6\u6587\u6295\u7a3f\u306b\u3042\u305f\u308a\u3001\u907a\u4f1d\u5b50\u5909\u7570\u306e\u78ba\u8a8d\u306fNGS\u3060\u3051\u3067\u306a\u304f\u30b5\u30f3\u30ac\u30fc\u6cd5\u3067\u3082\u884c\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u5916\u90e8\u6a5f\u95a2\u306b\u59d4\u8a17\u3057\u307e\u3059\u304c\u3001\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b9\u306f\u7814\u7a76\u5ba4\u306b\u65b0\u3057\u304f\u5c0e\u5165\u3057\u305fSeqStudio Genetic Analyzer\u3067\u8fc5\u901f\u306b\u884c\u3044\u307e\u3057\u305f\u300d\u3068\u9f4b\u85e4\u6c0f\u306f\u8a9e\u308a\u307e\u3059\u3002<\/p>\n

\u8ab0\u3067\u3082\u4f7f\u3048\u308b\u30ad\u30e3\u30d4\u30e9\u30ea\u30b7\u30fc\u30b1\u30f3\u30b5<\/span><\/h2>\n

\u300c\u4ee5\u524d\u306f\u30ad\u30e3\u30d4\u30e9\u30ea\u4ea4\u63db\u304c\u5927\u5909\u3067\u3001\u4f5c\u696d\u3067\u304d\u308b\u4eba\u304c\u9650\u3089\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001SeqStudio Genetic Analyzer\u306f\u30ab\u30fc\u30c8\u30ea\u30c3\u30b8\u5f0f\u306a\u306e\u3067\u8ab0\u3067\u3082\u884c\u3048\u307e\u3059\u3002\u81e8\u5e8a\u306e\u7814\u7a76\u5ba4\u306a\u306e\u3067\u696d\u52d9\u306e\u5408\u9593\u306b\u5b9f\u9a13\u3059\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u64cd\u4f5c\u306e\u7c21\u7565\u5316\u306f\u79c1\u305f\u3061\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u30e1\u30ea\u30c3\u30c8\u300d\u3068\u9650\u3089\u308c\u305f\u6642\u9593\u5185\u3067\u7740\u5b9f\u306b\u7814\u7a76\u3092\u9032\u3081\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u6307\u6458\u3057\u307e\u3059\u3002<\/p>\n

\u672a\u8a3a\u65ad\u306e\u60a3\u8005\u3055\u3093\u306b\u5f79\u7acb\u3064\u7814\u7a76\u3092<\/span><\/h2>\n

\u300c\u81e8\u5e8a\u7814\u7a76\u306b\u304a\u3044\u3066\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u884c\u3046\u6a5f\u4f1a\u304c\u78ba\u5b9f\u306b\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u8a3a\u7642\u306e\u4e00\u74b0\u306b\u53d6\u308a\u5165\u308c\u3089\u308c\u308b\u53ef\u80fd\u6027\u3082\u60f3\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7814\u7a76\u9762\u3067\u3082\u65b0\u305f\u306a\u75be\u60a3\u907a\u4f1d\u5b50\u306e\u767a\u898b\u3084\u65e2\u77e5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u540c\u5b9a\u306b\u3088\u308a\u3001\u6a5f\u80fd\u89e3\u6790\u306a\u3069\u306e\u7814\u7a76\u306e\u5e45\u304c\u5e83\u304c\u3063\u3066\u3044\u304f\u306f\u305a\u3002\u5916\u6ce8\u3084\u5171\u540c\u5b9f\u9a13\u5ba4\u7b49\u3067\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u3092\u5229\u7528\u3057\u3001\u7814\u7a76\u5ba4\u306e\u30ad\u30e3\u30d4\u30e9\u30ea\u30b7\u30fc\u30b1\u30f3\u30b5\u3067\u88dc\u52a9\u4f5c\u696d\u3084\u78ba\u8a8d\u4f5c\u696d\u3092\u884c\u3048\u3070\u3001\u500b\u5225\u306e\u7814\u7a76\u5ba4\u3067\u3082\u5e0c\u5c11\u75be\u60a3\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306a\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u884c\u3048\u308b\u6642\u4ee3\u3067\u3059\u3002\u8a3a\u65ad\u3092\u6c42\u3081\u3066\u533b\u7642\u6a5f\u95a2\u3092\u6e21\u308a\u6b69\u304f\uff08diagnostic journey\uff09\u5e0c\u5c11\u75be\u60a3\u306e\u60a3\u8005\u3055\u3093\u304c\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u8ca0\u62c5\u3092\u5c11\u3057\u3067\u3082\u6e1b\u3089\u3057\u3066\u3044\u304d\u305f\u3044\u3068\u601d\u3063\u3066\u3044\u307e\u3059\u3002\u4eca\u5f8c\u3001\u30a4\u30f3\u30c8\u30ed\u30f3\u3084\u8abf\u7bc0\u9818\u57df\u3001\u9060\u4f4d\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u306a\u3069\u30a8\u30af\u30bd\u30f3\u4ee5\u5916\u306e\u7570\u5e38\u306b\u3082\u89e3\u6790\u5bfe\u8c61\u3092\u5e83\u3052\u3066\u3055\u3089\u306b\u75be\u60a3\u7814\u7a76\u3092\u6df1\u3081\u3066\u3044\u304d\u305f\u3044\u300d\u3068\u9f4b\u85e4\u6c0f\u306f\u4eca\u5f8c\u306e\u5c55\u671b\u3092\u8a9e\u308a\u307e\u3059\u3002<\/p>\n

\u203b’Defects in autophagosome-lysosome fusionunderlie Vici syndrome, a neurodevelopmentaldisorder with multisystem involvement\u2019 Hori I. et al.Sci Rep. 7:3552\uff082017\uff09<\/span><\/p>\n

\u30b9\u30d4\u30fc\u30c7\u30a3\u30fc\u3067\u4f7f\u3044\u3084\u3059\u30444\u672c\u30ad\u30e3\u30d4\u30e9\u30ea\u306eDNA\u30b7\u30fc\u30b1\u30f3\u30b5<\/span>
\nSeqStudio Genetic Analyzer<\/span><\/h2>\n

\"SeqStudio\"<\/a>Applied Biosystems\u2122 SeqStudio\u2122 Genetic Analyzer\u306f\u3001\u7c21\u5358\u306a\u30af\u30ea\u30c3\u30af\u3060\u3051\u3067\u3001\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u3068\u30d5\u30e9\u30b0\u30e1\u30f3\u30c8\u89e3\u6790\u3092\u5b9f\u65bd\u3067\u304d\u308b\u30ad\u30e3\u30d4\u30e9\u30ea\u30b7\u30fc\u30b1\u30f3\u30b5\u3067\u3059\u3002\u30aa\u30fc\u30eb\u30a4\u30f3\u30ab\u30fc\u30c8\u30ea\u30c3\u30b8\u65b9\u5f0f\u306a\u306e\u3067\u521d\u5fc3\u8005\u306b\u3082\u4f7f\u3044\u3084\u3059\u304f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\u30c7\u30fc\u30bf\u3068\u306e\u9ad8\u3044\u76f8\u95a2\u6027\u3092\u78ba\u8a8d\u6e08\u307f\u3067\u3059\u3002<\/p>\n

SeqStudio Genetic Analyzer\u306e\u8a73\u7d30\u60c5\u5831\u306f\u3053\u3061\u3089<\/a><\/p>\n

\u30e9\u30a4\u30d5\u30b5\u30a4\u30a8\u30f3\u30b9\u60c5\u5831\u8a8c\u300cNEXT\u300d<\/span><\/h2>\n

\"\u300cNEXT\u300d2018\u5e747\u6708\u53f7\"<\/a><\/p>\n

\u5f53\u8a18\u4e8b\u306f\u30b5\u30fc\u30e2\u30d5\u30a3\u30c3\u30b7\u30e3\u30fc\u30b5\u30a4\u30a8\u30f3\u30c6\u30a3\u30d5\u30a3\u30c3\u30af\u304c\u767a\u520a\u3059\u308b\u30e9\u30a4\u30d5\u30b5\u30a4\u30a8\u30f3\u30b9\u60c5\u5831\u8a8c\u300cNEXT\u300d2018\u5e747\u6708\u53f7\u304b\u3089\u306e\u629c\u7c8b\u3067\u3059\u3002
\nNEXT\u306e\u30d0\u30c3\u30af\u30ca\u30f3\u30d0\u30fc\u306f\u3053\u3061\u3089<\/a><\/p>\n

 <\/p>\n

 <\/p>\n

 <\/p>\n

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