{"id":144246,"date":"2023-08-21T07:21:02","date_gmt":"2023-08-21T07:21:02","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e5%a4%96%e9%a1%af%e5%ad%90%e5%ae%9a%e5%ba%8f%e6%94%b9%e5%96%84%e8%87%ba%e7%81%a3%e7%bd%95%e8%a6%8b%e7%96%be%e7%97%85%e8%a8%ba%e6%96%b7\/"},"modified":"2026-01-19T06:52:59","modified_gmt":"2026-01-19T06:52:59","slug":"exome-sequencing-improves-rare-disease-diagnostics-in-taiwan","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhtw\/operations\/sequencing\/exome-sequencing-improves-rare-disease-diagnostics-in-taiwan\/","title":{"rendered":"\u5916\u986f\u5b50\u5b9a\u5e8f\u6539\u5584\u81fa\u7063\u7f55\u898b\u75be\u75c5\u8a3a\u65b7"},"content":{"rendered":"

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\u672c\u6587\u7684\u7814\u7a76\u548c\u64b0\u5beb\u5f97\u5230\u4e86\u4ee5\u4e0b\u7684\u652f\u63f4\uff1a\u7f85\u6c0f\u8a3a\u65b7\u4e9e\u592a\u5340\u696d\u52d9\u7d93\u7406Patrick Danoy(\u5b9a\u5e8f\u6a23\u672c\u524d\u8655\u7406)\u3001\u7f85\u6c0f\u8a3a\u65b7\u53f0\u7063\u8a3a\u65b7\u50f9\u503c\u5206\u6790\u5e2bAlvin Hsiang\u548c\u7f85\u6c0f\u8a3a\u65b7\u53f0\u7063\u8a3a\u65b7\u50f9\u503c\u4e3b\u7ba1Sasa Sha\u3002<\/em><\/p>\n

\u53c3\u8003\u6587\u737b\uff1a<\/em><\/p>\n

[1]<\/a>\u00a0Dimmock\uff0cD.\u7b49\u4eba(2021) \u300c\u5e7c\u718a\u8a08\u756b\uff1a\u5feb\u901f\u7cbe\u6e96\u7167\u8b77\u57285\u5bb6\u52a0\u5dde\u5152\u7ae5\u91ab\u9662\u4e2d\u7d0d\u5165\u5feb\u901f\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff0c\u8b49\u660e\u53ef\u6539\u5584\u81e8\u5e8a\u7642\u6548\u4e26\u964d\u4f4e\u7167\u8b77\u6210\u672c\u300d\uff0c\u300a\u7f8e\u570b\u4eba\u985e\u907a\u50b3\u5b78\u96dc\u8a8c\u300b\uff0c108(7)\uff0c\u7b2c1231-1238\u9801\u3002 doi\uff1a10.1016\/j.ajhg.2021.05.008\u3002<\/p>\n

[2]<\/a>\u00a0AI_\u8b8a\u7570\u9ad4\u512a\u5148\u6392\u5e8f\u5668-\u667a\u6167\u578b\u8b8a\u7570\u9ad4\u512a\u5148\u6392\u5e8f\u7cfb\u7d71\u3002\u570b\u7acb\u81fa\u7063\u5927\u5b78\u91ab\u5b78\u9662\u9644\u8a2d\u91ab\u9662\u8acb\u9020\u8a2a\uff1ahttps:\/\/www.ntuh.gov.tw\/SH\/News.action?q_type=A01&q_itemCode=13057&agroup=a<\/p>\n

[3]<\/a>\u00a0Chien\uff0cY.-H.\u53caHwu\uff0cW.-L. (2023) \u300cThe modern face of newborn screening\u300d\uff0cPediatrics &amp\uff1b Neonatology\uff0c64. doi\uff1a10.1016\/j.pedneo.2022.11.001\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"

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