{"id":7392,"date":"2020-07-07T13:38:05","date_gmt":"2020-07-07T04:38:05","guid":{"rendered":"http:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/?p=7392"},"modified":"2021-12-02T11:20:24","modified_gmt":"2021-12-02T02:20:24","slug":"cytoscan_ma_gsd_ts_2","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/learning-at-the-bench\/cytoscan_ma_gsd_ts_2\/","title":{"rendered":"\u9ad8\u5bc6\u5ea6DNA\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30a2\u30ec\u30a4\u3092\u4f7f\u7528\u3057\u3066\u30d2\u30c8\u306e\u75c5\u6c17\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u691c\u51fa\u3059\u308b"},"content":{"rendered":"

\"\"\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306f\u8fd1\u5e74\u5b89\u4fa1\u3067\u5229\u7528\u3057\u3084\u3059\u304f\u306a\u308a\u3001\u907a\u4f1d\u5b50\u30b7\u30fc\u30b1\u30f3\u30b9\u306b\u95a2\u5fc3\u306e\u3042\u308b\u591a\u304f\u306e\u7814\u7a76\u5ba4\u3084\u7814\u7a76\u8005\u306b\u3068\u3063\u3066\u9b45\u529b\u7684\u306a\u30c4\u30fc\u30eb\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002
\n\u3057\u304b\u3057\u3001\u5168\u30b2\u30ce\u30e0\u306f\u975e\u5e38\u306b\u81a8\u5927\u306a\u91cf\u3067\u305d\u306e\u591a\u304f\u306f\u751f\u7269\u5b66\u7684\u91cd\u8981\u6027\u304c\u9650\u5b9a\u3055\u308c\u3066\u3044\u308b\u304b\u3001\u672a\u77e5\u3067\u3042\u308a\u3001\u305d\u306e\u7d50\u679c\u3001\u7814\u7a76\u8005\u304c\u5e0c\u671b\u306e\u7b54\u3048\u3092\u5f97\u308b\u305f\u3081\u306b\u9078\u5225\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u5927\u91cf\u306e\u30c7\u30fc\u30bf\u304c\u751f\u3058\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u6700\u65b0\u306e\u30b2\u30ce\u30df\u30af\u30b9\u30c4\u30fc\u30eb\u306e\u591a\u304f\u306f\u5168\u30b2\u30ce\u30e0\u914d\u5217\u306e\u5e83\u5927\u306a\u5e45\u3068\u30bf\u30fc\u30b2\u30c3\u30c8\u3068\u3059\u308b\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u304b\u3089\u5f97\u3089\u308c\u308b\u8a73\u7d30\u306a\u7d50\u679c\u9593\u306e\u6b69\u307f\u5bc4\u308a\u3092\u76ee\u7684\u3068\u3057\u3066\u304a\u308a\u3001Applied Biosystems\u2122 CytoScan\u2122 XON Suite<\/a>\u3082\u305d\u306e\u3088\u3046\u306a\u30c4\u30fc\u30eb\u306e1\u3064\u3067\u3059\u3002<\/p>\n

\u9ad8\u5bc6\u5ea6DNA\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30a2\u30ec\u30a4\u3092\u7528\u3044\u305f\u30a8\u30af\u30bd\u30f3\u30ec\u30d9\u30eb\u3067\u306e\u30d2\u30c8\u30b3\u30d4\u30fc\u6570\u5909\u52d5\u306e\u691c\u51fa<\/h2>\n

\u300cExon-Level Detection of Human Copy Number Variation Using High-Density DNA Oligonucleotide Arrays<\/a>\u300d\u306e\u30dd\u30b9\u30bf\u30fc\u767a\u8868\u3067\u306f\u3001Cytoscan XON Suite\u306e\u7279\u5fb4\u3092\u3054\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002
\n\u30a2\u30ec\u30a4\u3001\u8a66\u85ac\u3001\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u3092\u542b\u3080Cytoscan XON Suite\u306f\u30a8\u30af\u30bd\u30fc\u30e0\u5168\u4f53\u3092\u30ab\u30d0\u30fc\u3059\u308b\u88fd\u54c1\u3067\u3059\u3002\u9ad8\u611f\u5ea6\u306a\u30a8\u30af\u30bd\u30f3\u30ec\u30d9\u30eb\u306e\u30b3\u30d4\u30fc\u6570\u691c\u51fa\u3068\u5168\u30b2\u30ce\u30e0\u3092\u7db2\u7f85\u3059\u308b\u512a\u308c\u305f\u30ab\u30d0\u30ec\u30c3\u30b8\u306e\u4e21\u65b9\u3092\u63d0\u4f9b\u3057\u3001\u81e8\u5e8a\u7814\u7a76\u306e\u95a2\u9023\u6027\u306b\u57fa\u3065\u304d\u907a\u4f1d\u5b504\u968e\u5c64\u306b\u5206\u3051\u3066\u7d50\u679c\u3092\u8868\u793a\u3067\u304d\u307e\u3059\u3002<\/p>\n

\u3053\u306e\u72ec\u81ea\u306e\u6a5f\u80fd\u306b\u3088\u308a\u3001\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306b\u7d5e\u308a\u8fbc\u3093\u3067CNVs\u3092\u8868\u793a\u3059\u308b\u3053\u3068\u3084\u3001\u968e\u5c64\u3092\u5168\u30b2\u30ce\u30e0\u306b\u5e83\u3052\u308b\u3053\u3068\u3082\u3067\u304d\u307e\u3059\u3002
\n\u3053\u306e4\u968e\u5c64\u306e\u51fa\u529b\u30d5\u30a9\u30fc\u30de\u30c3\u30c8\u306f\u3001\u7814\u7a76\u8005\u306e\u30cb\u30fc\u30ba\u306e\u5909\u5316\u306b\u5fdc\u3058\u3066\u3001CytoScan XON\u306e\u67d4\u8edf\u6027\u3092\u30d5\u30eb\u306b\u6d3b\u7528\u3059\u308b\u305f\u3081\u306b\u5f79\u7acb\u3061\u3001\u81e8\u5e8a\u7684\u306b\u95a2\u9023\u6027\u306e\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b7,003\u306e\u907a\u4f1d\u5b50\u304b\u308925,980\u907a\u4f1d\u5b50\u306e\u5b8c\u5168\u306a\u30bb\u30c3\u30c8\u307e\u3067\u3001\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u30ab\u30d0\u30fc\u3059\u308b 4,900\u4e07\u4ee5\u4e0a\u306e\u30b3\u30d4\u30fc\u6570\u89e3\u6790\u7528\u30d7\u30ed\u30fc\u30d6\u30d7\u30fc\u30eb\u304b\u3089\u7d4c\u9a13\u7684\u306b\u9078\u629e\u3055\u308c\u305f685\u4e07\u500b\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u4f7f\u7528\u3057\u3066\u30b3\u30d4\u30fc\u6570\u89e3\u6790\u3092\u884c\u3044\u307e\u3059\u3002
\n\u3053\u308c\u3089\u306e\u30d7\u30ed\u30fc\u30d6\u306f\u305d\u306e\u4ed6\u306e\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30c4\u30fc\u30eb\u3067\u306f\u691c\u51fa\u304c\u56f0\u96e3\u306a\u30b3\u30d4\u30fc\u6570\u5909\u52d5\uff08CNV\uff09\u306e\u691c\u51fa\u3068\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u7279\u306b\u9069\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u30ef\u30fc\u30eb\u30c7\u30f3\u30d6\u30eb\u30b0\u75c7\u5019\u7fa4\u3067\u306eCytoScan Xon Suite\u4f7f\u7528\u4f8b<\/h2>\n

CytoScan XON Suite\u306e\u6709\u52b9\u6027\u306f\u3001\u30ef\u30fc\u30eb\u30c7\u30f3\u30d6\u30eb\u30b0\u75c7\u5019\u7fa4\u306e\u5bb6\u65cf\u306b\u95a2\u3059\u308bStevenson\u3089\u306e\u7814\u7a76\u3067\u304a\u305d\u3089\u304f\u6700\u3082\u3088\u304f\u5b9f\u8a3c\u3055\u308c\u3066\u3044\u307e\u30591<\/sup>\u3002\u30ef\u30fc\u30eb\u30c7\u30f3\u30d6\u30eb\u30b0\u75c7\u5019\u7fa4\u306f\u67d3\u8272\u4f53\u7570\u5e38\u3092\u6709\u3059\u308b\u75be\u60a3\u3067\u3042\u308a\u3001\u7279\u5fb4\u7684\u306a\u5916\u898b\u3092\u3082\u305f\u3089\u3057\u3001\u6642\u306b\u306f\u96e3\u8074\u3084\u305d\u306e\u4ed6\u306e\u8ab2\u984c\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002
\nStevenson\u3089\u306e\u7814\u7a76\u3067\u306f\u4e21\u89aa\u304c\u3069\u3061\u3089\u3068\u3082\u30ef\u30fc\u30eb\u30c7\u30f3\u30d6\u30eb\u30b0\u75c7\u5019\u7fa4\u3092\u5448\u3057\u307e\u3057\u305f\u3002
\n\u4e21\u89aa\u306e\u6700\u521d\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u3001\u5b50\u4f9b\u304c\u30ef\u30fc\u30eb\u30c7\u30f3\u30d6\u30eb\u30b0\u75c7\u5019\u7fa4\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u4e8b\u5b9f\u4e0a\u78ba\u304b\u3067\u3057\u305f\u304c\u3001\u305d\u3046\u3067\u306a\u3051\u308c\u3070\u5065\u5eb7\u3067\u3042\u308d\u3046\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u307e\u3057\u305f\u3002
\n\u3057\u304b\u3057\u306a\u304c\u3089\u3001\u7d50\u679c\u7684\u306b\u3001\u5bb6\u65cf \u306f\u4ed6\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u4e88\u6e2c\u3082\u8aac\u660e\u3082\u3067\u304d\u306a\u3044\u3088\u3046\u306a\u60c5\u5831\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53d7\u3051\u305f\u5b50\u4f9b\u306e\u6b7b\u7523\u3092\u53d7\u3051\u5165\u308c\u306a\u3051\u308c\u3070\u306a\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002<\/p>\n

\u7814\u7a76\u8005\u305f\u3061\u306f\u3001CytoScan XON\u30a2\u30ec\u30a4\u3092\u4f7f\u7528\u3057\u3066\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u578b\u304c\u4e92\u3044\u306b\u7570\u306a\u308a\u3001\u4ee5\u524d\u306e\u907a\u4f1d\u5b50\u30a2\u30c3\u30bb\u30a4\u3067\u306f\u898b\u9003\u3055\u308c\u3066\u3044\u305f\u30b3\u30d4\u30fc\u6570\u591a\u578b\u3092\u4ecb\u3057\u3066\u3001\u5f7c\u3089\u306e\u5b50\u4f9b\u306b\u8907\u5408\u7684\u306b\u81f4\u6b7b\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u7d99\u304c\u308c\u3066\u3044\u308b\u3068\u5224\u65ad\u3057\u307e\u3057\u305f\u3002<\/p>\n

\u3053\u306e\u3088\u3046\u306a\u30b7\u30ca\u30ea\u30aa\u3067\u306f\u3001\u7570\u306a\u308b\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u67d3\u8272\u4f53\u7570\u5e38\u3092\u3082\u3064\u89aa\u304c\u3001\u7279\u5b9a\u306e\u6b20\u5931\u307e\u305f\u306f\u5909\u7570\u306b\u3064\u3044\u3066\u30db\u30e2\u63a5\u5408\u6027\u306e\u5b50\u5b6b\u3092\u751f\u307f\u51fa\u3057\u3001\u305d\u306e\u5b50\u5b6b\u306f\u3001\u91cd\u5ea6\u306e\u307e\u305f\u306f\u81f4\u547d\u7684\u306b \u5f71\u97ff\u3092\u53d7\u3051\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3055\u307e\u3056\u307e\u306a\u907a\u4f1d\u7684\u6761\u4ef6\u3067\u767a\u751f\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u4ed6\u306e\u65b9\u6cd5\u3067\u306f\u4e88\u6e2c\u304c\u56f0\u96e3\u306a\u305f\u3081\u3001\u305d\u306e\u4e88\u6e2c\u306b\u306fCytoScan XON Suite\u306e\u3088\u3046\u306a\u3001\u3088\u308a\u65b0\u3057\u3044\u30c4\u30fc\u30eb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n

1,855\u4eba\u306e\u5065\u5e38\u8005\u306b\u304a\u3051\u308b\u30a8\u30af\u30bd\u30f3\u30ec\u30d9\u30eb\u306e\u30b2\u30ce\u30e0\u30b3\u30d4\u30fc\u6570\u5909\u5316\u306e\u7279\u5fb4<\/h2>\n

\u300cCharacterization of Exon-Level Genomic Copy Number Changes in 1,855 Normal Individual<\/a>\u300d\u306e\u30dd\u30b9\u30bf\u30fc\u306f\u3001CytoScan XON Suite\u304c\u5730\u57df\u306e\u7279\u5fb4\u306b\u57fa\u3065\u304f\u30b2\u30ce\u30e0\u5168\u4f53\u306e\u30d1\u30bf\u30fc\u30f3\u306e\u7406\u89e3\u3092\u6df1\u3081\u308b\u306e\u306b\u3082\u5f79\u7acb\u3061\u307e\u3057\u305f\u3002\u7570\u306a\u308b\u6c11\u65cf\u96c6\u56e3\u304c\u4ed6\u306e\u6c11\u65cf\u96c6\u56e3\u3068\u533a\u5225\u3067\u304d\u308b\u5171\u901a\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3057\u3001\u3053\u308c\u3089\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u75c5\u6c17\u3078\u306e\u611f\u53d7\u6027\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u8fd1\u5e74\u8a8d\u8b58\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002
\n\u533b\u7642\u304c\u307e\u3059\u307e\u3059\u500b\u4eba\u7684\u306a\u3082\u306e\u306b\u306a\u308b\u306b\u3064\u308c\u3066\u3001\u3053\u308c\u3089\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u306f\u516c\u8846\u885b\u751f\u4e0a\u5fc5\u8981\u3067\u3042\u308a\u3001\u533b\u7642\u5c02\u9580\u5bb6\u306f\u3088\u308a\u591a\u304f\u306e\u60c5\u5831\u3092\u5f97\u3066\u60a3\u8005\u306e\u30cb\u30fc\u30ba\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u7814\u7a76\u8005\u305f\u3061\u306f\u3001CytoScan XON Suite\u3068\u65e2\u5b58\u306e\u30d2\u30c8\u30b2\u30ce\u30e0\u30e9\u30a4\u30d6\u30e9\u30ea\u30fc\u306e\u9ad8\u3044\u611f\u5ea6\u3092\u5229\u7528\u3057\u3066\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u306e\u30b3\u30d4\u30fc\u6570\u306e\u5909\u52d5\u304c\u6c11\u65cf\u9593\u306e\u9055\u3044\u306e\u672c\u8cea\u7684\u306a\u90e8\u5206\u3067\u306f\u306a\u3044\u3053\u3068\u3092\u793a\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3057\u305f\u3002\u3053\u308c\u306f\u3001\u3053\u308c\u304b\u3089\u306e\u7814\u7a76\u3078\u306e\u7591\u554f\u3092\u63d0\u8d77\u3057\u3001\u771f\u306b\u500b\u5225\u5316\u3055\u308c\u305f\u533b\u5b66\u306e\u7d99\u7d9a\u7684\u306a\u63a2\u6c42\u306e\u305f\u3081\u306b\u3001\u3069\u306e\u8abf\u67fb\u306e\u9053\u304c\u3088\u308a\u5b9f\u308a\u591a\u3044\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u304b\u793a\u5506\u3059\u308b\u306e\u3092\u52a9\u3051\u307e\u3059\u3002<\/p>\n

\u307e\u3068\u3081<\/h2>\n

CytoScan XON Suite\u304c\u63d0\u4f9b\u3067\u304d\u308b\u53ef\u80fd\u6027\u306e\u8a73\u7d30\u306f\u3001Cytoscan XON Suite \u306e\u6a5f\u80fd\u3068\u5229\u7528\u65b9\u6cd5\u3092\u89e3\u8aac\u3057\u3066\u3044\u308b\u30da\u30fc\u30b8<\/a>\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n

Resources:<\/strong>
\n1. Stevenson, R. E., Vincent, V., Spellicy, C. J., Friez, M. J. & Chaubey, A. (2018). \u201cBiallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome,\u201d Am. J. Med. Genet. A. 176: 1,968\u20131,971.<\/p>\n

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