{"id":142777,"date":"2023-08-21T07:21:02","date_gmt":"2023-08-21T07:21:02","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%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%b7%e3%83%b3%e3%82%b0%e3%81%ab%e3%82%88%e3%82%8a%e5%8f%b0%e6%b9%be%e3%81%ae%e5%b8%8c%e5%b0%91%e7%96%be%e7%97%85\/"},"modified":"2026-01-20T06:52:04","modified_gmt":"2026-01-20T06:52:04","slug":"exome-sequencing-improves-rare-disease-diagnostics-in-taiwan","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/ja\/operations\/sequencing\/exome-sequencing-improves-rare-disease-diagnostics-in-taiwan\/","title":{"rendered":"\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u308a\u53f0\u6e7e\u306e\u5e0c\u5c11\u75be\u75c5\u8a3a\u65ad\u304c\u5411\u4e0a"},"content":{"rendered":"

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WES\u306e\u4f7f\u7528\u3092\u5f37\u5316\u3057\u3066\u3044\u308bNTUH<\/h2>\n

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2016\u5e74\u4ee5\u6765\u3001NTUH Genetics\u30c1\u30fc\u30e0\u306f\u3001WES\/WGS\u304b\u3089\u306e\u5e0c\u5c11\u75be\u60a3\u306e\u8a3a\u65ad\u3092\u5bb9\u6613\u306b\u3059\u308b\u305f\u3081\u306b\u3001AI\u30d9\u30fc\u30b9\u306e\u30d0\u30ea\u30a2\u30f3\u30c8\u512a\u5148\u9806\u4f4d\u4ed8\u3051\u30c4\u30fc\u30eb\u3082\u958b\u767a\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30c4\u30fc\u30eb\u306f\u53f0\u6e7e\u3067\u3044\u304f\u3064\u304b\u306e\u4e3b\u8981\u306a\u8cde\u3092\u53d7\u8cde\u3057\u307e\u3057\u305f[2]\u3002<\/p>\n

VGH\u3067\u306e\u30b3\u30b9\u30c8\u7ba1\u7406\u3068\u5206\u6790\u306e\u6539\u5584<\/h2>\n

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\u30c7\u30fc\u30bf\u89e3\u91c8\u30d7\u30ed\u30bb\u30b9\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u3001VGH\u306f\u73fe\u5728\u3001\u5916\u90e8AI\u4f01\u696d\u3068\u5354\u529b\u3057\u3066\u3001\u9ad8\u5ea6\u306a\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u3092\u958b\u767a\u3057\u3066\u3044\u307e\u3059\u3002\u540c\u9662\u306e\u30d3\u30b8\u30e7\u30f3\u306f\u3001\u8907\u96d1\u306a\u907a\u4f1d\u6027\u75be\u60a3\u306e\u8a3a\u65ad\u3092\u652f\u63f4\u3059\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u30d5\u30a1\u30fc\u30de\u30b3\u30b2\u30ce\u30df\u30af\u30b9\u3084\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306a\u3069\u306e\u6a5f\u80fd\u3082\u542b\u3080\u5305\u62ec\u7684\u306a\u300c\u7cbe\u5bc6\u533b\u7642\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u300d\u3092\u69cb\u7bc9\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n

CGMH\u3067\u306e\u3066\u3093\u304b\u3093\u7814\u7a76\u5411\u3051\u30a8\u30af\u30bd\u30fc\u30e0<\/h2>\n

\u53f0\u6e7e\u306e\u6c11\u9593\u75c5\u9662\u3084\u8a3a\u7642\u6240\u306e\u3044\u304f\u3064\u304b\u3082\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u7814\u7a76\u306b\u53c2\u52a0\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e00\u4f8b\u3068\u3057\u3066\u3001\u53f0\u6e7e\u5168\u571f\u306b\u62e0\u70b9\u3092\u6301\u3064\u4e3b\u8981\u75c5\u9662\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3067\u3042\u308bChang Gung Memorial Hospital\uff08CGMH\uff09\u30b7\u30b9\u30c6\u30e0\u306f\u3001\u307e\u308c\u306a\u75be\u60a3\u3092\u6709\u3059\u308b2,000\u4eba\u306e\u53f0\u6e7e\u4eba\u60a3\u8005\u3092\u5bfe\u8c61\u306b\u30a8\u30af\u30bd\u30fc\u30e0\u306e\u914d\u5217\u6c7a\u5b9a\u3092\u884c\u3046\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u3068\u306e\u5171\u540c\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3092\u9032\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u307e\u305f\u3001\u5357\u90e8\u306e\u9ad8\u96c4\u5e02\u306b\u4f4d\u7f6e\u3059\u308bCGMH\u30b7\u30b9\u30c6\u30e0\u306e\u533b\u7642\u30bb\u30f3\u30bf\u30fc\u3067\u3042\u308bKaohsiung Chang Gung Memorial Hospital\u306f\u3001\u3066\u3093\u304b\u3093\u306b\u95a2\u3059\u308b\u56fd\u969b\u7814\u7a76\u30d7\u30ed\u30b8\u30a7\u30af\u30c8 Epi25 \u306e\u52df\u96c6\u30bb\u30f3\u30bf\u30fc\u3068\u3057\u3066\u3082\u6a5f\u80fd\u3057\u3066\u3044\u307e\u3059\u3002\u540c\u75c5\u9662\u306e\u533b\u5b66\u7814\u7a76\u90e8\u9580\uff08Department of Medical Research\uff09\u304a\u3088\u3073\u30b2\u30ce\u30df\u30af\u30b9\u30fb\u30d7\u30ed\u30c6\u30aa\u30df\u30af\u30b9\u30b3\u30a2\u7814\u7a76\u6240\uff08Genomics & Proteomics Core Laboratory\uff09\u306e\u6559\u6388\u3067\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u306eDr Meng-Han Tsai\u306b\u3088\u308b\u3068\u3001\u3053\u306e\u7814\u7a76\u3084\u305d\u306e\u4ed6\u306e\u7814\u7a76\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3092\u901a\u3058\u3066\u3001\u3055\u3089\u306b2,000\u500b\u306e\u30a8\u30af\u30bd\u30fc\u30e0\u304c\u3059\u3067\u306b\u53ce\u96c6\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u540c\u6c0f\u306f\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002\u300c\u4ee5\u524d\u306f\u5b89\u4fa1\u306a\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u3092\u4f7f\u7528\u3057\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u6700\u7d42\u7684\u306b\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u307e\u305f\u306f\u30b2\u30ce\u30e0\u914d\u5217\u306e\u65b9\u304c\u306f\u308b\u304b\u306b\u512a\u308c\u3066\u3044\u308b\u3053\u3068\u306b\u6c17\u3065\u304d\u307e\u3057\u305f\u3002400\u3092\u8d85\u3048\u308b\u907a\u4f1d\u5b50\u304c\u3066\u3093\u304b\u3093\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u3066\u3093\u304b\u3093\u306b\u907a\u4f1d\u7684\u57fa\u76e4\u304c\u3042\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u6839\u672c\u539f\u56e0\u3092\u7406\u89e3\u3059\u308b\u306b\u306f\u591a\u304f\u306e\u60c5\u5831\u304c\u5fc5\u8981\u3067\u3059\u3002\u300d<\/p>\n

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\u53f0\u6e7e\u306b\u304a\u3051\u308b\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u672a\u6765<\/h2>\n

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\u30a2\u30b8\u30a2\u3084\u4e16\u754c\u4e2d\u306e\u4ed6\u306e\u56fd\u3068\u306f\u7570\u306a\u308a\u3001\u53f0\u6e7e\u306f\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u305f\u3081\u306e\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u307e\u305f\u306f\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u5f79\u5272\u3092\u8abf\u67fb\u3059\u308b\u305f\u3081\u306e\u4e3b\u8981\u306a\u7814\u7a76\u3092\u307e\u3060\u958b\u59cb\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u4e00\u90e8\u306e\u7814\u7a76\u8005\u306f\u3001\u5730\u57df\u306e\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u6a5f\u4f1a\u3092\u63a2\u308b\u305f\u3081\u306b\u533b\u7642\u653f\u7b56\u7acb\u6848\u8005\u3068\u7a4d\u6975\u7684\u306b\u5354\u529b\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u306e\u8cbb\u7528\u4fbf\u76ca\u3068\u751f\u547d\u502b\u7406\u306b\u95a2\u3059\u308b\u61f8\u5ff5\u306f\u9006\u98a8\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u6717\u5831\u3068\u3057\u3066\u3001\u53f0\u6e7e\u306b\u306f\u5f37\u529b\u306a\u30d8\u30eb\u30b9\u30b1\u30a2\u30b7\u30b9\u30c6\u30e0\u3068\u30d8\u30eb\u30b9\u30b1\u30a2\u6280\u8853\u306e\u5805\u7262\u306a\u81ea\u56fd\u5e02\u5834\u304c\u3042\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u3055\u3089\u306b\u3001Taiwan Foundation for Rare Disorders \u306e\u3088\u3046\u306aNGO\u3092\u901a\u3058\u305f\u5e0c\u5c11\u75be\u75c5\u8a3a\u65ad\u306e\u305f\u3081\u306e\u4ee3\u66ff\u7684\u306a\u8cc7\u91d1\u6e90\u3082\u5229\u7528\u53ef\u80fd\u3067\u3059\u304c\u3001\u307b\u3068\u3093\u3069\u306e\u5c02\u9580\u5bb6\u306f\u3001\u305d\u308c\u3089\u304c\u81e8\u5e8a\u7684\u9700\u8981\u3092\u6e80\u305f\u3059\u306b\u306f\u4e0d\u5341\u5206\u3067\u3042\u308b\u3068\u540c\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u5168\u4f53\u3068\u3057\u3066\u3001\u53f0\u6e7e\u306f\u30a2\u30b8\u30a2\u592a\u5e73\u6d0b\u5730\u57df\u306e\u4ed6\u306e\u56fd\u3005\u3068\u6bd4\u8f03\u3057\u3066\u3001\u4eba\u3005\u304c\u5e0c\u5c11\u75be\u60a3\u306e\u9ad8\u54c1\u8cea\u306a\u8a3a\u65ad\u306b\u30a2\u30af\u30bb\u30b9\u3067\u304d\u308b\u3088\u3046\u306b\u3059\u308b\u3068\u3044\u3046\u70b9\u3067\u512a\u308c\u305f\u53d6\u308a\u7d44\u307f\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002\u4eca\u65e5\u306eWES\u3078\u306e\u30a2\u30af\u30bb\u30b9\u306f\u4e0d\u5b8c\u5168\u306a\u307e\u307e\u3067\u3059\u304c\u3001\u4eca\u5f8c\u6570\u5e74\u9593\u3067\u3055\u3089\u306a\u308b\u9032\u6b69\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n

\u672c\u8a18\u4e8b\u306f\u3001Roche Diagnostics Asia Pacific\u306e\u533b\u7642\u30a8\u30f3\u30b2\u30fc\u30b8\u30e1\u30f3\u30c8\u30ea\u30fc\u30c9\u3067\u3042\u308bWill Greene\u304c\u57f7\u7b46\u3057\u3001\u6559\u80b2\u30b3\u30f3\u30c6\u30f3\u30c4\u3068\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u69cb\u7bc9\u3092\u901a\u3058\u3066\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u5e0c\u5c11\u75be\u75c5\u8a3a\u65ad\u306e\u30d9\u30b9\u30c8\u30d7\u30e9\u30af\u30c6\u30a3\u30b9\u3092\u63a8\u9032\u3059\u308b\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6\u3067\u3042\u308bProject Strongbow\u3092\u5171\u540c\u3067\u30ea\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002 \u672c\u30c8\u30d4\u30c3\u30af\u306b\u95a2\u3059\u308b\u8a18\u4e8b\u3068\u30d3\u30c7\u30aa\u306e\u8a73\u7d30\u306f\u3001Newborn Screening<\/a>\uff08\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff09\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u00a0\u672c\u8a18\u4e8b\u306e\u57f7\u7b46<\/em><\/p>\n

\u304a\u3088\u3073\u7814\u7a76\u306f\u3001Roche Diagnostics Asia Pacific\u306eAPAC\u30d3\u30b8\u30cd\u30b9\u30de\u30cd\u30fc\u30b8\u30e3\u30fcPatrick Danoy\u6c0f\uff08Sequencing Sample Prep\uff09\u3001Roche Diagnostics Taiwan\u306e\u8a3a\u65ad\u4fa1\u5024\u30a2\u30ca\u30ea\u30b9\u30c8Alvin Hsiang\u6c0f\u3001Roche Diagnostics Taiwan\u306e\u8a3a\u65ad\u4fa1\u5024\u30ea\u30fc\u30c9\u3067\u3042\u308bSasa Sha\u6c0f\u306e\u652f\u63f4\u3092\u53d7\u3051\u3066\u884c\u308f\u308c\u307e\u3057\u305f\u3002\u00a0<\/em><\/p>\n

\u53c2\u8003\u6587\u732e\uff1a<\/em><\/p>\n

[1]<\/a>\u00a0Dimmock,D.et al. (2021) \u2018Project Baby Bear: Rapid Precision Care incorporating rwgs in 5 California Children’s hospitals demonstrates improved clinical outcomes and reduced costs of care\u2019, The American Journal of Human Genetics, 108(7), pp. 1231-1238. doi:10.1016\/j.ajhg.2021.05.008.<\/p>\n

[2]<\/a>\u00a0AI_Variant Prioritizer – a smart variant prioritization system.National Taiwan University Hospital.\u4ee5\u4e0b\u3067\u95b2\u89a7\u53ef\u80fd\uff1a\u00a0https:\/\/www.ntuh.gov.tw\/SH\/News.action?q_type=A01&q_itemCode=13057&agroup=a<\/p>\n

[3]<\/a>\u00a0Chien, Y.-H. and Hwu, W.-L. (2023) \u2019The modern face of newborn screening\u2019, Pediatrics & Neonatology, 64. doi:10.1016\/j.pedneo.2022.11.001.<\/p>\n","protected":false},"excerpt":{"rendered":"

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