{"id":9710,"date":"2018-05-07T12:09:53","date_gmt":"2018-05-07T04:09:53","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100004550&idx=1&sn=e088c1832cc75032198ea0315c9e88b6&chksm=6b72a0715c0529678cbc3252f47ab8472aa63b8e00656fa097d64a0acfcf742ba396a4b2439c#rd"},"modified":"2026-04-02T18:50:00","modified_gmt":"2026-04-02T10:50:00","slug":"505299-2","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2018\/05\/07\/505299-2\/","title":{"rendered":"32\u5bb6\u57fa\u56e0\u4f01\u4e1a\u5171\u5546\u884c\u4e1a\u8054\u76df\u548c\u89c4\u8303\uff0c\u5efa\u8a00\u732e\u7b56\uff08\u4e0a\uff09"},"content":{"rendered":"

<\/p>\n

\n\n
\n
\"RmFicvQBAkgDEsUia5jbfibMgeRrNibH1ns0NaxVdCMqRl9Bcn0geKXKbn4CByInShB9u6lDPnKmK1nhKxqqiaRaUzQ\"\/<\/figure><\/div>\n\n<\/div>\n
\u5173\u952e\u5b57\uff1a\u57fa\u56e0\u68c0\u6d4b\u8054\u76df \u6807\u51c6\u89c4\u8303<\/div>\n
\u5efa\u8bae\u7528\u65f6\uff1a8\u5206\u949f<\/div>\n
2018\u5e744\u670823\u65e5\uff0c\u5728\u9ec4\u5c1a\u5fd7\u6559\u6388\u7684\u5021\u4eea\u4e0b\uff0c\u7531\u836f\u660e\u660e\u7801\u627f\u529e\uff0cWHO\u9057\u4f20\u75c5\u793e\u533a\u536b\u751f\u63a7\u5236\u5408\u4f5c\u4e2d\u5fc3\u3001\u987e\u5927\u592b\u5de5\u4f5c\u5ba4\u3001\u57fa\u56e0\u6167\u3001\u6d4b\u5e8f\u4e2d\u56fd\u534f\u529e\u7684\u201c\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\u6210\u7acb\u66a8\u7b2c\u4e8c\u5c4a\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\u4f1a\u8bae\u201d \u7b79\u5907\u4f1a\u8bae\uff08\u8be6\u60c5<\/a>\uff09\u6210\u529f\u5728\u4eac\u53ec\u5f00\uff0c32\u5bb6\u57fa\u56e0\u68c0\u6d4b\u673a\u6784\u53ca\u4f01\u4e1a\u4ee3\u8868\u53c2\u4f1a\uff0c\u56f4\u7ed5\u4e03\u4e2a\u70ed\u70b9\u8bae\u9898\u7684\u89c4\u8303\u548c\u6807\u51c6\u79ef\u6781\u8ba8\u8bba\u3002\u7ed3\u5408\u4f1a\u8bae\u901f\u8bb0\u548c\u884c\u4e1a\u5206\u6790\uff0c\u57fa\u56e0\u6167\u4e0e\u60a8\u5206\u4eab\u6982\u8981\u5185\u5bb9\uff0c\u6b22\u8fce\u7559\u8a00\u53c2\u4e0e\u8ba8\u8bba\u3002\u66f4\u591a\u8be6\u60c5\u4e5f\u8bf7\u53c2\u9605\u987e\u5927\u592b\u4e3b\u6301\u7684\u57fa\u56e0\u4e0e\u533b\u7597\u548c\u5065\u5eb7\u8bba\u575b\uff08https:\/\/bbs.genelinks.com\uff09\u3002<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\n\n
\n
\"RmFicvQBAkgBvj1bX3wyyZgd9hWJxojX1YjOF003Dib5EU8IVXZjHoWjKkc2xobic5WbvAovqzh582RroJ6MdicHhA\"\/<\/figure><\/div>\n\n
\u56fe\uff0c\u7b79\u59d4\u4f1a\u4e0e\u4f1a\u4ee3\u8868\u5408\u5f71<\/div>\n
WHO\u9057\u4f20\u75c5\u793e\u533a\u63a7\u5236\u5408\u4f5c\u4e2d\u5fc3\u4e3b\u4efb\u9ec4\u5c1a\u5fd7\u6559\u6388\u3001\u4e0a\u6d77\u513f\u7ae5\u533b\u5b66\u4e2d\u5fc3\u6c88\u4ea6\u5e73\u6559\u6388\u3001CHPO\u603b\u534f\u8c03\u4eba\u987e\u536b\u7ea2\u5927\u592b\u3001\u836f\u660e\u660e\u7801\u9996\u5e2d\u6280\u672f\u5b98\u5b59\u6d2a\u4e1a\u535a\u58eb\u5206\u522b\u5f00\u5e55\u81f4\u8f9e\uff0c\u63d0\u51fa\u884c\u4e1a\u6807\u51c6\u548c\u89c4\u8303\u5efa\u7acb\u7684\u5fc5\u8981\u6027\uff0c\u4ee5\u53ca\u5bf9\u63a8\u52a8\u884c\u4e1a\u6807\u51c6\u5316\u5efa\u8bbe\u7684\u671f\u671b\u3002<\/div>\n\n
\n
\"RmFicvQBAkgBvj1bX3wyyZgd9hWJxojX1LaHYmmFPGAekE2OpXlOLHm1Dx9uG1f8L0dQe4yW1hdTT83s2evcgiaQ\"\/<\/figure><\/div>\n\n
\u56fe\uff0c\uff08\u4ece\u4e0a\u5230\u4e0b\uff0c\u4ece\u5de6\u81f3\u53f3\uff09\u9ec4\u5c1a\u5fd7\u6559\u6388\u3001\u6c88\u4ea6\u5e73\u6559\u6388\u3001\u987e\u536b\u7ea2\u5927\u592b\u3001\u5b59\u6d2a\u4e1a\u535a\u58eb\u505a\u5f00\u5e55\u81f4\u8f9e<\/div>\n
\u4e0e\u4f1a\u7684\u4f01\u4e1a\u4ee3\u8868\u56f4\u7ed57\u4e2a\u4e3b\u9898\u7684\u6807\u51c6\u548c\u89c4\u8303\u8fdb\u884c\u70ed\u70c8\u8ba8\u8bba\uff1a<\/div>\n
\u4e34\u5e8a\u8868\u578b<\/div>\n
\u6570\u636e\u5e93<\/div>\n
\u5b9e\u9a8c\u5ba4\u8d28\u91cf<\/div>\n
\u53d8\u5f02\u5206\u6790<\/div>\n
\u77e5\u8bc6\u5e93<\/div>\n
\u6559\u5b66\u57f9\u8bad<\/div>\n
\u653f\u7b56\u53ca\u4f26\u7406<\/div>\n
\u4ee5\u4e0b\u5185\u5bb9\u57fa\u4e8e\u8ba8\u8bba\u8fc7\u7a0b\u4ee5\u53ca\u57fa\u56e0\u6167\u5bf9\u884c\u4e1a\u7684\u5206\u6790\uff0c\u548c\u8bf8\u4f4d\u5206\u4eab\u8ba8\u8bba\u5185\u5bb9\u7684\u6982\u8981\u3002\u6b22\u8fce\u7559\u8a00\u53c2\u4e0e\u8ba8\u8bba\u3002<\/div>\n
\u00a0<\/div>\n
1\u3001\u4e34\u5e8a\u8868\u578b\u89c4\u8303\u8ba8\u8bba<\/div>\n\n
\n
\"RmFicvQBAkgDbSqOEDVU88pcFj9mmWWzwXDXCSZwJjls6gbNN9aH95THtqAciaUmGAWbrmgibKaxnLzc8Kuqp4ceQ\"\/<\/figure><\/div>\n\n
\u56fe\uff0c\u4e34\u5e8a\u8868\u578b\u8bb0\u5f55\u793a\u610f\u56fe\uff0c\u6765\u81ea\u6444\u56fe\u7f51<\/div>\n
\u5728\u56fd\u5185\u4e34\u5e8a\u5b9e\u8df5\u4e2d\uff0c\u4e34\u5e8a\u5de5\u4f5c\u8005\u5728\u8bb0\u5f55\u8868\u578b\u6570\u636e\u65f6\u65e0\u89c4\u8303\u53ef\u5faa\uff0c\u5b58\u5728\u8bb0\u5f55\u4e0d\u5b8c\u6574\u3001\u4e0d\u89c4\u8303\u7b49\u8bf8\u591a\u95ee\u9898\uff0c\u540c\u65f6\u533b\u7597\u4e0e\u57fa\u56e0\u68c0\u6d4b\u673a\u6784\u7684\u5bf9\u63a5\uff0c\u8868\u578b\u4e0e\u57fa\u56e0\u68c0\u6d4b\u6570\u636e\u7684\u5bf9\u5e94\u4ea6\u4ea7\u751f\u4e00\u5b9a\u56f0\u96be\uff0c\u5bf9\u4e34\u5e8a\u57fa\u56e0\u8bca\u65ad\u7ed3\u679c\u53ca\u6d41\u7a0b\u7ba1\u7406\u6709\u4e00\u5b9a\u8d1f\u9762\u5f71\u54cd\u3002<\/div>\n
\u5982\u4f55\u5efa\u7acb\u4e34\u5e8a\u8868\u578b\u89c4\u8303\uff1f\u4e0e\u4f1a\u4ee3\u8868\u4ece\u53c2\u8003HPO\u548cCHPO\u89c4\u8303\u3001\u8868\u578b\u6570\u636e\u6536\u96c6\u3001\u5927\u6570\u636e\u5f55\u5165\uff0c\u7b2c\u4e09\u65b9\u68c0\u6d4b\u673a\u6784\u548c\u4e34\u5e8a\u533b\u751f\u4e4b\u95f4\u52a0\u5f3a\u6c9f\u901a\u673a\u5236\u548c\u57f9\u8bad\u7b49\u65b9\u9762\u505a\u4e86\u6df1\u5165\u63a2\u8ba8\u3002<\/div>\n
\u00a0<\/div>\n
\u53c2\u8003HPO\u548cCHPO\u89c4\u8303<\/div>\n
\u5982\u4f55\u4ea7\u751f\u6709\u6548\u7684\u3001\u53ef\u4f9b\u4e34\u5e8a\u533b\u751f\u9075\u5faa\u7684\u4e34\u5e8a\u8868\u578b\u89c4\u8303\u5462\uff1f\u534e\u5927\u57fa\u56e0\u9996\u5e2d\u4ea7\u54c1\u5b98\u5f6d\u667a\u5b87\u8ba4\u4e3a\u53ef\u4ee5\u53c2\u8003HPO\uff08Human Phenotype Ontology\uff09\u548cCHPO\uff08\u4e2d\u6587\u4eba\u7c7b\u8868\u578b\u6807\u51c6\u7528\u8bed\u8054\u76df\uff09\u6570\u636e\u5e93\u63a8\u5e7f\u8868\u578b\u89c4\u8303\u672f\u8bed\u96c6\uff1b\u5f6d\u667a\u5b87\u5f3a\u8c03\uff0c\u89c4\u8303\u7684\u7b2c\u4e00\u6b65\u662f\u533b\u751f\u505a\u5230\u5b8c\u6574\u5730\u8bb0\u5f55\u8868\u578b\u3002\u4e91\u5eb7\u96c6\u56e2\u8fbe\u5b89\u4e34\u5e8a\u68c0\u9a8c\u4e2d\u5fc3\u6709\u9650\u516c\u53f8\u5206\u5b50\u8bca\u65ad\u5e73\u53f0\u8d1f\u8d23\u4eba\u6bb5\u5fd7\u5cf0\u4e5f\u8868\u793a\u5bf9HPO\u7684\u4e13\u4e1a\u5ea6\u7684\u8ba4\u53ef\uff0c\u540c\u65f6\u63d0\u51fa\u4e0eOMIM\u7b49\u9057\u4f20\u6570\u636e\u5e93\u5173\u8054\u3002<\/div>\n
\u00a0<\/div>\n
\u987e\u5927\u592b\u4ee5\u81ea\u5df1\u591a\u5e74\u4ece\u4e8b\u4e34\u5e8a\u4e00\u7ebf\u57fa\u56e0\u8bca\u65ad\u548c\u9057\u4f20\u79d1\u7814\u7684\u7ecf\u5386\uff0c\u63d0\u51fa\u4e34\u5e8a\u8868\u578b\u65e2\u662f\u9009\u62e9\u57fa\u56e0\u68c0\u6d4b\u65b9\u5f0f\u7684\u4f9d\u636e\uff0c\u4e5f\u662f\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u5206\u6790\u548c\u89e3\u8bfb\u7684\u91cd\u8981\u57fa\u7840\u3002CHPO\u5728\u83b7\u5f97HPO\u6388\u6743\u4e4b\u540e\uff0c\u5728\u4e2d\u56fd\u57fa\u4e8e\u4e00\u4e2a\u5f00\u653e\u7684\u5e73\u53f0\uff0c\u8054\u5408\u5404\u76f8\u5173\u9886\u57df\u4e13\u4e1a\u4eba\u58eb\uff0c\u5efa\u7acb\u4e86\u4e2d\u6587\u4e34\u5e8a\u8868\u578b\u672f\u8bed\u6807\u51c6\uff0c\u76ee\u7684\u662f\u6307\u5bfc\u5e76\u670d\u52a1\u4e8e\u4f7f\u7528\u4e2d\u6587\u7684\u4e34\u5e8a\u548c\u79d1\u7814\u5de5\u4f5c\u8005\uff0c\u56e0\u6b64\u5efa\u8bae\u4e34\u5e8a\u533b\u751f\u975e\u5e38\u8fdb\u4e00\u6b65\u4e86\u89e3\u5e76\u638c\u63e1CHPO\uff0c\u4ece\u800c\u5e2e\u52a9\u63d0\u9ad8\u4e34\u5e8a\u57fa\u56e0\u8bca\u65ad\u7684\u6548\u7387\u3002<\/div>\n
\u00a0<\/div>\n
\u00a0\u5bb6\u7cfb\u76f8\u5173\u8868\u578b\u6536\u96c6\u00a0\u00a0<\/div>\n
\u5173\u4e8e\u8868\u578b\u7684\u6536\u96c6\uff0c\u9664\u4e86\u4e2a\u4f53\u8868\u578b\u63cf\u8ff0\u672f\u8bed\u7684\u89c4\u8303\uff0c\u6bb5\u5fd7\u5cf0\u8865\u5145\u9053\uff0c\u7279\u522b\u5728\u9057\u4f20\u9886\u57df\uff0c\u5bb6\u7cfb\u56fe\u8c31\u4fe1\u606f\u662f\u4e34\u5e8a\u60a3\u8005\u8868\u578b\u6536\u96c6\u5fc5\u8981\u7ec4\u6210\u90e8\u5206\u3002\u56e0\u6b64\uff0c\u6bb5\u5fd7\u5cf0\u5efa\u8bae\u5728\u5f00\u5c55\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u65f6\uff0c\u9664\u4e86\u4e2a\u4f53\u7684\u57fa\u56e0\u4fe1\u606f\uff0c\u4e00\u5b9a\u8981\u786e\u4fdd\u5bf9\u5bb6\u7cfb\u51c6\u786e\u8868\u578b\u7684\u6536\u96c6\u3002<\/div>\n
\u00a0<\/div>\n
\u00a0\u4e2d\u56fd\u4eba\u7684\u4e34\u5e8a\u8868\u578b\u53ca\u63cf\u8ff0\u00a0<\/div>\n
\u5728\u8c08\u5230CHPO\u7684\u4f7f\u7528\u65f6\uff0c\u534e\u5927\u57fa\u56e0\u9996\u5e2d\u4ea7\u54c1\u5b98\u5f6d\u667a\u5b87\u63d0\u51fa\u6839\u636e\u4e2d\u56fd\u7684\u5b9e\u9645\u60c5\u51b5\u8fdb\u884c\u5b8c\u5584\uff0c\u6bd4\u5982\u6dfb\u52a0\u540c\u4e49\u8bcd\u7b49\uff1b\u54c8\u4f5b\u5927\u5b66\u533b\u5b66\u9662\u6c88\u4ea6\u5e73\u6559\u6388\u8ba4\u4e3a\uff0c\u6211\u4eec\u6240\u8ba4\u77e5\u5230\u7684\u4e2d\u56fd\u4eba\u4e34\u5e8a\u8868\u578b\u8fdc\u8fdc\u4e0d\u591f\uff0c\u4e9f\u5f85\u540e\u7eed\u7684\u4e30\u5bcc\u548c\u8865\u5145\u3002\u8fd9\u91cc\u9700\u8981\u8ba9\u4e34\u5e8a\u533b\u751f\u610f\u8bc6\u5230\u4e34\u5e8a\u8868\u578b\u89c4\u8303\u771f\u6b63\u7684\u91cd\u8981\u610f\u4e49\u3002<\/div>\n
\u00a0<\/div>\n
\u00a0\u4e34\u5e8a\u533b\u751f\u3001\u9057\u4f20\u5b66\u5bb6\u548c\u7b2c\u4e09\u65b9\u68c0\u6d4b\u673a\u6784\u7684\u7d27\u5bc6\u534f\u4f5c\u00a0<\/div>\n
\u5982\u4f55\u8ba9\u4e34\u5e8a\u533b\u751f\u8ba4\u8bc6\u5230\u8868\u578b\u89c4\u8303\u7684\u610f\u4e49\uff1f\u8d1d\u745e\u57fa\u56e0\u533b\u5b66\u4e8b\u4e1a\u90e8\u603b\u7ecf\u7406\u5468\u53ef\u8ba4\u4e3a\u53ef\u4ee5\u501f\u52a9\u8054\u76df\uff0c\u5bf9\u57fa\u5c42\u533b\u751f\u8fdb\u884c\u5e7f\u6cdb\u3001\u7ec6\u81f4\u3001\u4e13\u4e1a\u7684\u57f9\u8bad\uff0c\u5728\u4e00\u7ebf\u63a8\u5e7f\u4e34\u5e8a\u8868\u578b\u89c4\u8303\u548c\u672f\u8bed\u5728\u4e34\u5e8a\u5b9e\u8df5\u7aef\u7684\u6b63\u786e\u7406\u89e3\u548c\u4f7f\u7528\uff0c\u540c\u65f6\u5b9e\u73b0\u6570\u636e\u4e0d\u65ad\u79ef\u7d2f\uff0c\u624d\u80fd\u9002\u7528\u4e8e\u4e2d\u56fd\u4e34\u5e8a\u5e94\u7528\u3002<\/div>\n
\u5bf9\u4e8e\u8fd9\u70b9\uff0c\u4e2d\u79d1\u9662\u8ba1\u7b97\u6240\u4e2d\u79d1\u6676\u4e91CEO\u8d75\u5c79\u8865\u5145\u9053\uff0c\u5efa\u7acb\u8054\u76df\uff0c\u5bf9\u533b\u751f\uff0c\u5c24\u5176\u662f\u513f\u79d1\u7684\u533b\u751f\u7684\u57f9\u8bad\uff0c\u5145\u5206\u8c03\u52a8\u4e00\u7ebf\u533b\u751f\u5e94\u7528\u8868\u578b\u5c5e\u4e8e\u7b49\u89c4\u8303\u7684\u79ef\u6781\u6027\u662f\u91cd\u4e2d\u4e4b\u91cd\u3002<\/div>\n
\u00a0<\/div>\n
\u9664\u4e86\u57f9\u8bad\uff08\u57f9\u8bad\u7684\u90e8\u5206\u5728\u201c\u6559\u5b66\u57f9\u8bad\u89c4\u8303\u8ba8\u8bba\u201d\u7ae0\u8282\u4f1a\u505a\u65b0\u4e00\u6b65\u5ef6\u4f38\uff09\uff0c\u4e34\u5e8a\u533b\u751f\u3001\u9057\u4f20\u5b66\u5bb6\u548c\u7b2c\u4e09\u65b9\u68c0\u6d4b\u673a\u6784\u7684\u6c9f\u901a\u534f\u4f5c\u9700\u8981\u63d0\u9ad8\u3002\u987e\u5927\u592b\u8868\u793a\uff0c\u4e34\u5e8a\u533b\u751f\u56ff\u4e8e\u591a\u79cd\u56e0\u7d20\uff0c\u4e0d\u80fd\u7acb\u9a6c\u5b9e\u73b0\u7406\u60f3\u5316\u7684\u6539\u89c2\uff0c\u53ef\u4ee5\u4ece\u53d1\u5c55\u8f83\u5feb\u7684\u7b2c\u4e09\u65b9\u68c0\u6d4b\u673a\u6784\u7aef\u53d1\u529b\uff0c\u63a8\u52a8\u4e34\u5e8a\u65b9\u7684\u534f\u540c\u548c\u5e94\u7528\u3002<\/div>\n
\u00a0<\/div>\n
\u8fbe\u5b89\u57fa\u56e0\u5206\u5b50\u8bca\u65ad\u5e73\u53f0\u8d1f\u8d23\u4eba\u6bb5\u5fd7\u5cf0\u4e5f\u8ba4\u4e3a\uff0c\u9662\u5916\u7684\u7b2c\u4e09\u65b9\u57fa\u56e0\u68c0\u6d4b\u673a\u6784\u4f5c\u4e3a\u57fa\u56e0\u68c0\u6d4b\u7684\u4e3b\u4f53\u73af\u8282\uff0c\u5e94\u8be5\u627f\u62c5\u534f\u8c03\u548c\u63a8\u8fdb\u7684\u5de5\u4f5c\uff0c\u534f\u52a9\u9662\u5185\u7684\u4e34\u5e8a\u533b\u751f\u8fdb\u884c\u884c\u4e1a\u6807\u51c6\u5316\u7684\u5e94\u7528\u3002\u5efa\u8bae\u6bcf\u4e00\u4efd\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u7531\u4e34\u5e8a\u8868\u578b\u6536\u96c6\u7684\u4eba\u5458\uff0c\u5982\u9057\u4f20\u54a8\u8be2\u5e08\uff0c\u8fdb\u884c\u5b8c\u6574\u6d41\u7a0b\u7684\u628a\u63a7\uff0c\u534f\u8c03\u9662\u5185\u533b\u751f\u7684\u6c9f\u901a\u4ee5\u53ca\u6570\u636e\u5206\u6790\u5404\u73af\u8282\u3002<\/div>\n
\u57fa\u4e91\u60e0\u5eb7CEO\u90dd\u5411\u7a33\u8865\u5145\uff0c\u5728\u505a\u8868\u578b\u91c7\u96c6\u65f6\uff0c\u4e00\u5b9a\u8981\u4fdd\u6301\u4e0e\u8001\u5e08\u6216\u533b\u751f\u7d27\u5bc6\u7684\u6c9f\u901a\uff0c\u5efa\u8bae\u57fa\u56e0\u68c0\u6d4b\u516c\u53f8\u90fd\u80fd\u719f\u6089CHPO\u8fd9\u6837\u89c4\u8303\u5316\u7684\u672f\u8bed\uff0c\u5c06\u89c4\u8303\u5316\u672f\u8bed\u4f20\u64ad\u5f00\u6765\u3002<\/div>\n
\u00a0<\/div>\n
\u5965\u7ef4\u68ee\u57fa\u56e0CEO\u5f20\u65ed\u5efa\u8bae\u5728\u9001\u68c0\u5355\u4e0a\u5c06\u76f8\u5173\u75be\u75c5\u7684\u5178\u578b\u8868\u578b\u7f57\u5217\uff0c\u8ba9\u533b\u751f\u65b9\u4fbf\u52fe\u9009\u3002\u672a\u5217\u4e3e\u7684\u8868\u578b\u518d\u7531\u533b\u751f\u586b\u5199\uff0c\u5c3d\u91cf\u89c4\u8303\u5316\u8868\u578b\u63cf\u8ff0\u3002\u533b\u751f\u63d0\u4f9b\u7684\u8868\u578b\u8d8a\u8be6\u7ec6\uff0c\u53ef\u80fd\u68c0\u51fa\u7387\u5c31\u4f1a\u8d8a\u9ad8\uff0c\u4e5f\u5e0c\u671b\u901a\u8fc7\u8054\u76df\u8ba9\u533b\u751f\u7fa4\u4f53\u8fbe\u6210\u5171\u8bc6\u3002<\/div>\n
\u00a0<\/div>\n
\u5e94\u7528\u5927\u6570\u636e\u6280\u672f\u5bf9\u8868\u578b\u4fe1\u606f\u7684\u91c7\u96c6\u00a0\u00a0<\/div>\n
\u8868\u578b\u4fe1\u606f\u7684\u91c7\u96c6\uff0c\u9664\u4e86\u4eba\u5de5\u5f55\u5165\uff0c\u805a\u9053\u79d1\u6280CEO\u674e\u53a6\u620e\u63d0\u5230\uff0c\u91c7\u7528IT\u4fe1\u606f\u5316\u548c\u5927\u6570\u636e\u6280\u672f\u4e5f\u53ef\u4ee5\u63d0\u9ad8\u5f55\u5165\u548c\u7ba1\u7406\u6548\u7387\u3002\u4e2d\u79d1\u9662\u8ba1\u7b97\u6240\u4e2d\u79d1\u6676\u4e91CEO\u8d75\u5c79\u5efa\u8bae\u901a\u8fc7\u4eba\u5de5\u667a\u80fd\u6216\u8005\u6570\u636e\u6316\u6398\u7b49\u65b0\u5174\u6280\u672f\uff0c\u53ef\u4ee5\u5feb\u901f\u627e\u5230\u6838\u5fc3\u7684\u8868\u578b\u672f\u8bed\uff0c\u5b9e\u73b0\u66f4\u4fbf\u6377\u7684\u5f55\u5165\u3002\u00a0<\/div>\n
\u00a0<\/div>\n
\u7efc\u4e0a\u6240\u8ff0\uff0c\u4e34\u5e8a\u8868\u578b\u7684\u89c4\u8303\u5316\u662f\u9009\u62e9\u57fa\u56e0\u68c0\u6d4b\u65b9\u5f0f\u7684\u4f9d\u636e\uff0c\u4e5f\u662f\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u5206\u6790\u548c\u89e3\u8bfb\u7684\u91cd\u8981\u57fa\u7840\u3002\u53c2\u8003HPO\u3001CHPO\u7b49\u4e34\u5e8a\u8868\u578b\u672f\u8bed\u6570\u636e\u5e93\u540c\u65f6\uff0c\u9700\u8981\u5b8c\u5584\u4e2d\u56fd\u4eba\u7684\u8868\u578b\uff0c\u5e76\u5bf9\u5df2\u6709\u6570\u636e\u5e93\u8fdb\u884c\u8fdb\u4e00\u6b65\u8003\u8bc1\u548c\u8865\u5145\u3002\u4e34\u5e8a\u8868\u578b\u7684\u89c4\u8303\u5f55\u5165\u662f\u76ee\u524d\u5de5\u4f5c\u7684\u91cd\u96be\u70b9\uff0c\u4e00\u65b9\u9762\u9700\u57f9\u8bad\u4e34\u5e8a\u533b\u751f\uff0c\u53e6\u4e00\u65b9\u9762\u53ef\u501f\u52a9\u5927\u6570\u636e\u7b49\u6280\u672f\u5e2e\u52a9\u5f55\u5165\u8868\u578b\u548c\u6570\u636e\u6316\u6398\u3002<\/div>\n
\u00a0<\/div>\n
2\u3001\u6570\u636e\u5e93\u89c4\u8303\u8ba8\u8bba<\/div>\n\n
\n
\"RmFicvQBAkgDbSqOEDVU88pcFj9mmWWzwP6Pk0ZGfDXwL4EEz34RdbsPKwR8JcIa3jkSOqZHDAZJMXRlFGbqm7g\"\/<\/figure><\/div>\n\n
\u56fe\uff0c\u6570\u636e\u5e93\u793a\u610f\u56fe\uff0c\u6765\u81ea\u6444\u56fe\u7f51<\/div>\n
\u5982\u4f55\u5c06\u83b7\u5f97\u7684\u4e34\u5e8a\u8868\u578b\u4e0e\u57fa\u56e0\u578b\u6570\u636e\u8fdb\u884c\u89c4\u8303\u5316\u5b58\u50a8\u548c\u5171\u4eab\uff0c\u66f4\u4fbf\u6377\u7684\u8fd0\u7528\u4e8e\u4e34\u5e8a\u5b9e\u8df5\u548c\u79d1\u7814\uff1f\u5982\u4f55\u89e3\u51b3\u56fd\u5185\u5c1a\u7f3a\u4e4f\u5e7f\u6cdb\u5e94\u7528\u7684\u57fa\u56e0\u6570\u636e\u5e93\uff1f\u5404\u4f4d\u4e0e\u4f1a\u4ee3\u8868\u7eb7\u7eb7\u63d0\u51fa\u4e86\u5efa\u8bae\u548c\u60f3\u6cd5\u3002<\/div>\n
\u00a0<\/div>\n
\u5efa\u7acb\u591a\u6837\u6027\u7684\u57fa\u56e0\u6570\u636e\u5e93\u00a0\u00a0<\/div>\n
\uff08\u7f16\u8005\uff1a\u57fa\u56e0\u6570\u636e\u5e93\u4e0d\u4ec5\u662f\u57fa\u56e0\u6570\u636e\u7684\u7ed3\u5408\uff0c\u5305\u62ec\u7ed3\u6784\u5316\u7684\u6570\u636e\u7ba1\u7406\u3001\u4e0d\u540c\u6570\u636e\u7c7b\u578b\u7684\u8d28\u63a7\uff0c\u6bd4\u5bf9\u6ce8\u91ca\u8868\u578b\u7b49\u4e0d\u540c\u5e94\u7528\u5c42\u9762\u6570\u636e\u5e93\u7684\u6784\u5efa\u7b49\uff09\u5317\u4eac\u5e0c\u671b\u7ec4CEO\u6c6a\u5fb7\u9e4f\u63d0\u51fa\u5efa\u7acb\u4e34\u5e8a\u610f\u4e49\u672a\u660e\u7a81\u53d8\uff08Variant of Undetermined Significance\uff0cVUS\uff09\u6570\u636e\u5e93\uff0c\u5176\u4e2d\u4e0d\u4ec5\u5305\u62ecSNP\u3001InDel\u7b49\u77ed\u5e8f\u5217\u7a81\u53d8\uff0c\u4e5f\u5305\u62ecCNV\u3001SV\u7b49\u5927\u7247\u6bb5\u7ed3\u6784\u53d8\u5f02\uff0c\u8fd9\u5c06\u4e3a\u672a\u6765\u5f88\u591a\uff08\u8bca\u65ad\u672a\u660e\u7684\uff09\u9057\u4f20\u75c5\u548c\u80bf\u7624\u7684\u6ce8\u91ca\u548c\u8bca\u65ad\u6253\u597d\u575a\u5b9e\u7684\u57fa\u7840\u3002<\/div>\n
\u00a0<\/div>\n
\u9664\u4e86VUS\u6570\u636e\u5e93\uff0c\u8fc8\u57fa\u8bfaCEO\u4f0d\u5efa\u8ba4\u4e3a\u8981\u5efa\u7acb\u4e09\u7c7b\u6570\u636e\u5e93\uff1a1\uff09\u672a\u7ecf\u8fc7\u6ee4\u7684\u57fa\u56e0\u6570\u636e\uff1b2\uff09\u7ecf\u8fc7\u751f\u7269\u4fe1\u606f\u79d1\u5b66\u5bb6\u3001\u9057\u4f20\u5b66\u5bb6\u3001\u4e34\u5e8a\u533b\u751f\u5ba1\u6838\u540e\u7684\u6570\u636e\uff1b3\uff09\u4e34\u5e8a\u57fa\u56e0\u6570\u636e\u5e93\u3002\u8fd9\u5c06\u5bf9\u81f4\u75c5\u4f4d\u70b9\u548c\u672a\u660e\u4f4d\u70b9\u7684\u5206\u6790\u4ea7\u751f\u91cd\u8981\u4f5c\u7528\u3002<\/div>\n
\u5bf9\u4e8e\u5927\u5bb6\u5e38\u7528\u7684HGMD\uff08\u4eba\u7c7b\u57fa\u56e0\u7a81\u53d8\u6570\u636e\u5e93\uff0cThe Human Gene Mutation Database\uff09\uff0c\u5955\u771f\u751f\u7269VP Medical\u5f6d\u5d4b\u8ba4\u4e3a\u5176\u9633\u6027\u7387\u5f88\u4f4e\uff08\u5927\u7ea610%\u201420%\uff09\uff0c\u4e0d\u591f\u53ef\u9760\uff0c\u505a\u597d\u9057\u4f20\u75c5\u5206\u5b50\u8bca\u65ad\u5fc5\u987b\u8981\u5efa\u7acb\u66f4\u52a0\u7fd4\u5b9e\u3001\u51c6\u786e\u7684\u672c\u571f\u6570\u636e\u5e93\u3002<\/div>\n
\u5317\u4eac\u805a\u9053\u79d1\u6280CEO\u674e\u53a6\u620e\u4e5f\u8ba4\u540cHGMD\u5f88\u591a\u516c\u5f00\u7684\u6570\u636e\u5b58\u5728\u5927\u91cf\u95ee\u9898\uff0c\u540c\u65f6\u53ef\u4ee5\u90e8\u5206\u6570\u636e\u8fdb\u884c\u673a\u5668\u5b66\u4e60\uff0c\u5e2e\u52a9\u63d0\u5347\u9009\u70b9\u7684\u53ef\u9760\u6027\u3002<\/div>\n
\u00a0<\/div>\n
\u5efa\u7acb\u6570\u636e\u5e93\u7684\u5173\u952e\u56e0\u7d20\u00a0\u00a0<\/div>\n
\u5168\u9762\u4e14\u51c6\u786e\u7684\u6570\u636e\u5e93\u662f\u57fa\u56e0\u68c0\u6d4b\u548c\u5e94\u7528\u8bca\u7597\u7684\u57fa\u77f3\u3002\u5955\u771f\u751f\u7269VP Medical\u5f6d\u5d4b\u8ba4\u4e3a\u5efa\u7acb\u75be\u75c5\u53ca\u57fa\u56e0\u53d8\u5f02\u6570\u636e\u5e93\uff0c\u7279\u522b\u5728\u5e94\u7528\u75be\u75c5\u7b5b\u67e5\u65f6\uff0c\u9996\u5148\u8981\u5bf9\u75be\u75c5\u3001\u57fa\u56e0\u548c\u53d8\u5f02\u505a\u8bc4\u4f30\u548c\u5206\u7c7b\uff0c\u6bd4\u5982\u9700\u8981\u660e\u786e\u60a3\u75c5\u4e25\u91cd\u7a0b\u5ea6\u3001\u53d8\u5f02\u7684\u81f4\u75c5\u6027\u548c\u4eba\u7fa4\u5206\u5e03\uff0c\u8fd9\u6837\u624d\u80fd\u591f\u4ea7\u751f\u7b5b\u67e5\u7684\u7edf\u4e00\u6807\u51c6\u3002\u540c\u65f6\uff0c\u5efa\u7acb\u5b8c\u5907\u7684\u4e2d\u56fd\u4eba\u7fa4\u9057\u4f20\u75c5\u6570\u636e\u5e93\u624d\u662f\u4e2d\u56fd\u4eba\u7fa4\u7b5b\u67e5\u7684\u57fa\u7840\u3002<\/div>\n
\u00a0<\/div>\n
\u5bf9\u4e8e\u6570\u636e\u5e93\u7684\u5185\u5bb9\uff0c\u57fa\u4e8e\u591a\u5e74\u5efa\u7acb\u4eba\u7fa4\u6570\u636e\u5e93\u7684\u7ecf\u9a8c\u89d2\u5ea6\uff0c\u5317\u4eac\u536b\u5409\u5c14\u751f\u7269\u79d1\u6280\u8463\u4e8b\u957f\u5218\u957f\u80dc\uff0c\u63d0\u51fa\u6570\u636e\u5e93\u4e00\u5b9a\u8981\u4eceFASTQ\u6587\u4ef6\uff08\u6d4b\u5e8f\u6240\u5f97\u539f\u59cb\u57fa\u56e0\u5e8f\u5217\uff09\u8d77\u5efa\u7acb\uff0c\u4e0d\u80fd\u4eceVCF\u6587\u4ef6\u5efa\u7acb\uff1b\u6570\u636e\u5e93\u8981\u5c06\u540c\u7c7b\uff08\u6bd4\u5982\u540c\u79d1\u5ba4\uff09\u75c5\u4eba\u5206\u5728\u4e00\u8d77\uff1b\u6536\u96c6\u6c11\u65cf\u4e0e\u5730\u57df\u7684\u4fe1\u606f\uff1b\u5236\u5b9a\u4e25\u683c\u7684\u6837\u672c\u548c\u57fa\u56e0\u53d8\u5f02\u5165\u5e93\u7684\u6761\u4ef6\uff1b\u6570\u636e\u5e93\u5fc5\u987b\u62a5\u544a\u91cd\u590d\u5e8f\u5217\u533a\u57df\u548c\u53ef\u9760\u6027\u533a\u57df\u7b49\uff1b\u5e94\u5efa\u7acb\u534e\u4eba\u7684\u8f83\u9a8c\u7a81\u53d8\u5e93\uff0c\u53ef\u53c2\u7167Clingen \u548c Clinvar\u3002<\/div>\n
\u00a0<\/div>\n
\u5982\u4f55\u4ece\u51c6\u786e\u6027\u4e0a\u63d0\u9ad8\u6570\u636e\u5e93\u89c4\u8303\uff1f\u5965\u7ef4\u68ee\u57fa\u56e0CEO\u5f20\u65ed\u4ece\u56db\u4e2a\u65b9\u9762\u63d0\u51fa\u5efa\u7acb\u6570\u636e\u5e93\u7684\u5173\u952e\u56e0\u7d20\uff0c\u5305\u62ec\u6536\u5f55\u6837\u672c\u7684\u4fe1\u606f\u89c4\u8303\u5316\uff0c\u5373\uff0c\u5c3d\u53ef\u80fd\u5168\u5730\u8bb0\u5f55\u60a3\u8005\u7684\u4e34\u5e8a\u8868\u578b\u4ee5\u53ca\u5bb6\u65cf\u53f2\u7b49\uff1b\u6570\u636e\u5e93\u6837\u672c\u6d4b\u5e8f\u6570\u636e\u8d28\u63a7\u6807\u51c6\u89c4\u8303\u5316\uff0c\u5373\uff0c\u5e94\u660e\u786e\u8981\u6c42\u6536\u5f55\u6837\u672c\u6d4b\u5e8f\u6570\u636e\u8d28\u91cf\u6807\u51c6\uff0c\u6700\u597d\u80fd\u591f\u4e0a\u4f20\u539f\u59cb\u6570\u636e\uff0c\u517c\u5177\u53ef\u8ffd\u6eaf\u6027\uff1b\u6570\u636e\u5e93\u6ce8\u91ca\u7a81\u53d8\u6240\u7528\u8f6c\u5f55\u672c\u4fe1\u606f\u7684\u89c4\u8303\u5316\uff0c\u5373\uff0c\u7531\u4e8e\u57fa\u56e0\u5927\u591a\u5177\u6709\u591a\u4e2a\u8f6c\u5f55\u672c\uff0c\u4e0d\u540c\u8f6c\u5f55\u672c\u6ce8\u91ca\u5f97\u5230\u7684\u53d8\u5f02\u53ef\u80fd\u5dee\u5f02\u8f83\u5927\uff0c\u6240\u4ee5\u6570\u636e\u5e93\u6ce8\u91ca\u7a81\u53d8\u6240\u7528\u8f6c\u5f55\u672c\u5e94\u660e\u786e\uff0c\u5efa\u8bae\u4f7f\u7528\u5e38\u7528\u8f6c\u5f55\u672c\u8fdb\u884c\u7edf\u4e00\u6ce8\u91ca\uff1b\u6570\u636e\u5171\u4eab\uff0c\u5373\uff0c\u5927\u578b\u6d4b\u5e8f\u516c\u53f8\u5df2\u7ecf\u62e5\u6709\u6837\u672c\u91cf\u53ef\u89c2\u7684\u672c\u5730\u6570\u636e\u5e93\uff0c\u901a\u8fc7\u5408\u7406\u673a\u5236\u5171\u4eab\uff0c\u5bf9\u4e8e\u6574\u4e2a\u884c\u4e1a\u7684\u53d1\u5c55\u90fd\u5177\u6709\u91cd\u8981\u610f\u4e49\u3002<\/div>\n
\u6613\u5f97\u597d\u5eb7CEO\u9648\u6770\u8868\u793a\u9664\u4e86\u6570\u636e\u672c\u8eab\u7684\u6807\u51c6\u4e4b\u5916\uff0c\u8fd8\u9700\u5173\u6ce8\u5230\u6570\u636e\u7ba1\u7406\u548c\u4f7f\u7528\u7684\u6280\u672f\u6807\u51c6\uff0c\u4ee5\u53ca\u5e94\u7528\u5c42\u9762\u4e0a\u7684\u5171\u4eab\u673a\u5236\u3002<\/div>\n
\u00a0<\/div>\n
\uff08\u7f16\u8005\uff1a\u6570\u636e\u5e93\u4e0d\u662f\u5b64\u7acb\u7684\uff0c\u662f\u60a3\u8005\u5e94\u7528\u57fa\u56e0\u5927\u6570\u636e\u7684\u5206\u5b50\u4fe1\u606f\u4f53\u7cfb\uff0c\u4e5f\u662f\u884c\u4e1a\u89c4\u8303\u5316\u548c\u6807\u51c6\u5316\u7684\u4f53\u7cfb\uff0c\u5171\u4eab\u662f\u8d8b\u52bf\uff0c\u4e5f\u662f\u76ee\u524d\u5b58\u5728\u7684\u6311\u6218\uff09\u5b89\u8bfa\u4f18\u8fbe\u9057\u4f20\u54a8\u8be2\u603b\u76d1\u738b\u5a1f\u5bf9\u4e8e\u8fd9\u70b9\u8865\u5145\u9053\uff0c\u5404\u4e2a\u68c0\u6d4b\u673a\u6784\u5efa\u7acb\u81ea\u8eab\u6570\u636e\u5e93\u7684\u6807\u51c6\u4e0d\u4e00\u81f4\uff0c\u91c7\u7528\u4e0d\u540c\u7684\u5de5\u5177\u548c\u53c2\u6570\u53bb\u6784\u5efa\u6570\u636e\u5e93\uff0c\u56e0\u6b64\u5efa\u8bae\u9996\u5148\u5236\u5b9a\u7edf\u4e00\u7684\u89c4\u8303\u548c\u6807\u51c6\uff0c\u7136\u540e\u5efa\u8bbe\u901a\u7528\u6570\u636e\u5e93\u3002<\/div>\n
\u00a0<\/div>\n
\u7efc\u4e0a\u6240\u8ff0\uff0c\u4e34\u5e8a\u57fa\u56e0\u548c\u8868\u578b\u6570\u636e\u5e93\u662f\u4e34\u5e8a\u57fa\u56e0\u8bca\u65ad\u7684\u91cd\u8981\u57fa\u77f3\uff0c\u5e2e\u52a9\u4e34\u5e8a\u533b\u751f\u5206\u6790\u81f4\u75c5\u4f4d\u70b9\u548c\u673a\u7406\u3002\u6570\u636e\u5e93\u7684\u5efa\u8bbe\u9700\u8981\u5404\u5bb6\u57fa\u56e0\u68c0\u6d4b\u673a\u6784\u548c\u533b\u7597\u673a\u6784\u9075\u5b88\u4e00\u5b9a\u89c4\u5219\uff0c\u5305\u62ec\u4fe1\u606f\u6536\u5f55\u6d41\u7a0b\u3001\u8d28\u63a7\u548c\u534f\u4f5c\u7b49\u65b9\u9762\uff0c\u624d\u80fd\u5efa\u7acb\u8d77\u5168\u9762\u7684\u3001\u9ad8\u8d28\u91cf\u3001\u89c4\u8303\u7684\u6570\u636e\u5e93\u3002\u518d\u8005\uff0c\u6570\u636e\u5e93\u662f\u4f53\u7cfb\uff0c\u901a\u8fc7\u5171\u4eab\u5f62\u6210\u5927\u6570\u636e\u4f53\u7cfb\u4ea7\u751f\u66f4\u5927\u7684\u4ef7\u503c\u548c\u6218\u7565\u610f\u4e49\uff0c\u4e00\u65b9\u9762\u9700\u8981\u6269\u5145\u4e2a\u4eba\u5ef6\u4f38\u81f3\u5bb6\u7cfb\u7684\u8868\u578b\u3001\u57fa\u56e0\u578b\u4ee5\u53ca\u66f4\u591a\u7684\u533b\u7597\u5065\u5eb7\u4fe1\u606f\u5316\u6570\u636e\uff0c\u53e6\u4e00\u65b9\u9762\u8054\u5408\u5404\u5355\u4f4d\uff0c\u5c24\u5176\u662f\u7b2c\u4e09\u65b9\u57fa\u56e0\u68c0\u6d4b\u673a\u6784\u5171\u4eab\u6570\u636e\uff0c\u662f\u884c\u4e1a\u8d8b\u52bf\u6240\u5728\uff0c\u4e5f\u662f\u9700\u8981\u5efa\u7acb\u673a\u5236\u63a8\u52a8\u5404\u65b9\u5171\u4eab\u5171\u5efa\u3002<\/div>\n
\u00a0<\/div>\n
3\u3001\u751f\u7269\u4fe1\u606f\u53ca\u5b9e\u9a8c\u5ba4\u8d28\u91cf\u89c4\u8303\u8ba8\u8bba<\/div>\n\n
\n
\"RmFicvQBAkgDbSqOEDVU88pcFj9mmWWzwJdIg3Adq3ibVQTSFkMrvtlfGgLqQYteqDvgVibZBUXkznVnZUOpooUZg\"\/<\/figure><\/div>\n\n
\u56fe\uff0c\u5b9e\u9a8c\u5ba4\u64cd\u4f5c\u793a\u610f\u56fe\uff0c\u6765\u81ea\u6444\u56fe\u7f51<\/div>\n
\u5728\u5bf9\u4e34\u5e8a\u8868\u578b\u6709\u4e86\u51c6\u786e\u7684\u8bb0\u5f55\u3001\u5efa\u7acb\u8d77\u57fa\u672c\u7684\u53c2\u8003\u6570\u636e\u5e93\u540e\uff0c\u63a5\u4e0b\u6765\u6211\u4eec\u6765\u8c08\u8c08\u4ece\u6837\u672c\u5230\u6570\u636e\u7684\u8fc7\u7a0b\uff0c\u4e5f\u5c31\u662f\u57fa\u56e0\u6d4b\u5e8f\u7684\u5b9e\u9a8c\u5ba4\u9636\u6bb5\u548c\u751f\u7269\u4fe1\u606f\u6570\u636e\u5206\u6790\u9636\u6bb5\u7684\u6807\u51c6\u548c\u89c4\u8303\u3002<\/div>\n
\u8c08\u5230\u57fa\u56e0\u6d4b\u5e8f\uff0c\u5f88\u591a\u4eba\u60f3\u5230\u7684\u4e8c\u4ee3\u6d4b\u5e8f\u3002\u6211\u4eec\u77e5\u9053\u57fa\u56e0\u5206\u6790\u4e0d\u6b62\u662f\u6d4b\u5e8f\uff0c\u6d4b\u5e8f\u4e5f\u4e0d\u6b62\u4e8c\u4ee3\u6d4b\u5e8f\uff08\u51c6\u786e\u7ffb\u8bd1\u5e94\u8be5\u662f\u4e0b\u4e00\u4ee3\u9ad8\u901a\u91cf\u6d4b\u5e8f\uff09\u3002\u5bf9\u4e8e\u8fd9\u70b9\u826f\u57f9\u57fa\u56e0\u603b\u76d1\u8c2d\u704f\u6587\u8c08\u5230\uff0c\u57fa\u56e0\u68c0\u6d4b\u4ece\u65b9\u6cd5\u5b66\u4e0a\u4e3b\u6d41\u6709qPCR\u7b49\u57fa\u4e8emarker\uff08\u751f\u7269\u6807\u8bb0\uff09\u7684\u68c0\u6d4b\u3001\u4e00\u4ee3\u6d4b\u5e8f\u3001\u98de\u884c\u8d28\u8c31\u3001\u57fa\u56e0\u82af\u7247\u3001\u4e8c\u4ee3\u6d4b\u5e8f\u3001\u4e09\u4ee3\u6d4b\u5e8f\u7b49\u3002NGS\u662f\u8fd9\u4e9b\u6280\u672f\u4e2d\u5e94\u7528\u8303\u56f4\u6700\u591a\u3001\u901a\u91cf\u6700\u5927\u7684\u6280\u672f\uff0c\u76f8\u5bf9\u800c\u8a00\u5176\u8d28\u91cf\u89c4\u8303\u4f1a\u590d\u6742\u5f88\u591a\u3002\u5305\u62ec1\uff09\u6d4b\u5e8f\u5e73\u53f0\u7684\u9009\u62e9\uff1b\u91c7\u7528\u6269\u589e\u5b50\u8fd8\u662f\u6db2\u76f8\u6355\u83b7\u30022\uff09\u8986\u76d6\u7684\u5b9a\u4e49\uff1a\u5168\u57fa\u56e0\u7ec4\u8986\u76d6\u3001\u57fa\u56e0\u7f16\u7801\u533a\u5168\u8986\u76d6\u8fd8\u662f\u53ea\u8986\u76d6\u70ed\u70b9\u533a\u57df\uff1b\u8f6c\u5f55\u672c\u7684\u7248\u672c\u63a7\u5236\u30023\uff09\u6d4b\u5e8f\u6df1\u5ea6\u662f\u5e73\u5747\u6df1\u5ea6\u3001\u4e2d\u4f4d\u6570\u6df1\u5ea6\u8fd8\u662f20X\u8986\u76d6\u5ea6\u7b49\u30024\uff09\u8d28\u63a7\u54c1\u3001\u4e0d\u540c\u6d4b\u5e8f\u6df1\u5ea6\u7684\u5206\u6790\u7075\u654f\u5ea6\u3001\u5b9a\u91cf\u7ebf\u6027\u8303\u56f4\u7b49\u989d\u5916\u7684\u6280\u672f\u6027\u80fd\u53c2\u6570\u7b49\u3002<\/div>\n
\u00a0<\/div>\n
\u57fa\u56e0\u6d4b\u5e8f\u8fc7\u7a0b\u7684\u6838\u5fc3\u770b\u5b9e\u9a8c\u5ba4\u7684\u8d28\u91cf\u7ba1\u7406\u4f53\u7cfb\uff0c\u7f8e\u56fd\u6709CLIA\uff08Clinical Laboratory Improvement Amendments\uff09\u548cCAP\uff08\u7f8e\u56fd\u75c5\u7406\u5bb6\u534f\u4f1a\uff09\u8ba4\u8bc1\u4f53\u7cfb\uff0c\u56fd\u5bb6\u76f8\u5173\u90e8\u59d4\u4e5f\u51fa\u53f0\u4e00\u7cfb\u5217\u5bf9\u4e8e\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u89c4\u8303\u548c\u8d28\u91cf\u63a7\u5236\u7684\u76d1\u7ba1\u653f\u7b56\uff0c\u4f46\u4ecd\u7f3a\u4e4f\u4e00\u5b9a\u7684\u8ba4\u8bc1\u548c\u6301\u7eed\u6027\u8bc4\u4f30\u4f53\u7cfb\u3002\u5982\u4f55\u4ece\u4e0b\u5f80\u4e0a\uff0c\u79ef\u7d2f\u7ecf\u9a8c\u5e76\u63a8\u52a8\u4e2d\u56fd\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u6807\u51c6\uff0c\u5bf9\u6b64\u8bfa\u79be\u81f4\u6e90\u9057\u4f20\u4e8b\u4e1a\u90e8\u603b\u7ecf\u7406\u738b\u5927\u4f1f\u8868\u793a\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u7684\u8d28\u91cf\u7ba1\u7406\u4f53\u7cfb\u5305\u5b9e\u9a8c\u5ba4\u7684\u8d44\u8d28\u3001\u751f\u4ea7\u6d41\u7a0b\u6d41\u7a0b\u3001\u4eba\u5458\u8ba4\u8bc1\u7b49\u3002\u4e00\u65b9\u9762\u9700\u8981\u5efa\u7acb\u4fe1\u606f\u5316\u7ba1\u7406\u7cfb\u7edf\uff0c\u5b9e\u73b0\u6837\u672c\u3001\u539f\u59cb\u6570\u636e\u548c\u8fc7\u7a0b\u7684\u6eaf\u6e90\uff1b\u53e6\u4e00\u65b9\u9762\u9700\u8981\u5efa\u7acb\u4e00\u5957\u81ea\u52a8\u5316\u7ba1\u7406\u7cfb\u7edf\uff0c\u907f\u514d\u4eba\u4e3a\u8bef\u5dee\u5bfc\u81f4\u7684\u7ed3\u679c\u53c2\u5dee\u4e0d\u9f50\u3002\u6b64\u5916\u5bf9\u5b9e\u9a8c\u5ba4\u4eba\u5458\u8fdb\u884c\u96c6\u4e2d\u57f9\u8bad\u7684\u8ba4\u8bc1\u3002<\/div>\n
\u00a0<\/div>\n
\u4e1a\u5185\u4e00\u76f4\u6bd4\u8f83\u4fe1\u5949\u7684\u7f8e\u56fdCLIA\u548cCAP\u5b9e\u9a8c\u5ba4\u8ba4\u8bc1\u4f53\u7cfb\u662f\u5b8c\u7f8e\u7684\u5417\uff1f\u6b63\u5219\u7cbe\u51c6\u533b\u5b66\u68c0\u9a8c\u751f\u7269\u4fe1\u606f\u603b\u76d1\u3001\u7f8e\u56fd\u8d39\u57ce\u513f\u7ae5\u533b\u9662\u751f\u7269\u4fe1\u606f\u4e3b\u4efb\u7530\u7acb\u5cf0\u6559\u6388\u8868\u793a\uff0c\u5728\u7f8e\u56fd\u540c\u6837\u7f3a\u5c11\u884c\u4e1a\u6807\u51c6\uff0cCAP\u5728\u67d0\u4e9b\u65b9\u9762\u4e5f\u6ca1\u6709\u5177\u4f53\u89c4\u5b9a\uff0c\u6bd4\u5982VCF\u6570\u636e\u7b49\u3002\u5f88\u591a\u7ec6\u8282\u7531\u5404\u4e2a\u5b9e\u9a8c\u5ba4\u5177\u4f53\u843d\u5b9e\uff0c\u6bd4\u5982\u6d4b\u5e8f\u673a\u6784\u548c\u533b\u9662\u5bf9\u63a5\u8fc7\u7a0b\u4e2d\u7684\u6570\u636e\u4ea4\u6362\u7684\u63a5\u53e3\u3001\u8f6f\u4ef6\u7684API\u7b49\uff0c\u6bcf\u4e2a\u5408\u4f5c\u5355\u4f4d\u90fd\u4e0d\u4e00\u6837\uff0c\u8fd9\u90fd\u9700\u8981\u91cd\u590d\u7684\u5efa\u8bbe\u3002\u56fd\u5185\u7684\u6d4b\u5e8f\u6837\u672c\u96c6\u4e2d\u5728\u51e0\u4e2a\u4e3b\u8981\u7684\u6d4b\u5e8f\u4e2d\u5fc3\uff0c\u8fd9\u4e9b\u6d4b\u5e8f\u5de8\u5934\u4e4b\u95f4\u8fbe\u6210\u4e00\u4e2a\u53ef\u4ee5\u5b9e\u65bd\u7684\u8d28\u91cf\u6807\u51c6\uff0c\u662f\u6211\u4eec\u5171\u540c\u7684\u52aa\u529b\u65b9\u5411\u3002<\/div>\n
\u00a0<\/div>\n
\u5177\u4f53\u5982\u4f55\u5efa\u7acb\u53ef\u4ee5\u5b9e\u65bd\u7684\u5b9e\u9a8c\u5ba4\u8d28\u91cf\u6807\u51c6\uff1f\u4f18\u4e50\u590d\u751fCTO\u5f20\u7ffc\u63d0\u51fa\u4e00\u4e9b\u5177\u4f53\u7684\u70b9\u4f9b\u53c2\u8003\uff0c\u6bd4\u5982\u8ffd\u8e2a\u8bb0\u5f55\u5b9e\u9a8c\u5ba4\u7684\u201c\u4eba\u3001\u673a\u3001\u6599\u3001\u6cd5\u3001\u73af\u201d\uff0c\u5efa\u7acb\u4e2d\u56fd\u7279\u5f02\u7684\u6807\u51c6\u54c1\uff0c\u533a\u5206\u5206\u6e05\u6280\u672f\u4e2d\u95f4\u6807\u51c6\uff08\u5197\u4f59\u5ea6\u3001\u8986\u76d6\u5ea6\u3001\u5747\u4e00\u6027\u7b49\uff09\u548c\u7ec8\u7aef\u7528\u6237\u6807\u51c6\uff08\u5f02\u6027\u3001\u654f\u611f\u5ea6\u3001\u51c6\u786e\u7387\u3001PPV\u7b49\uff09\uff0c\u79ef\u7d2f\u53ef\u4ee5\u76f4\u63a5\u8f6c\u6362\u4e3a\u9057\u4f20\u54a8\u8be2\u7684\u6848\u4f8b\uff0c\u540c\u65f6\u5173\u6ce8\u4e0d\u80fd\u76f4\u63a5\u88ab\u666e\u901a\u8d28\u63a7\u6807\u51c6\u8986\u76d6\u7684\u70b9\uff08\u5047\u57fa\u56e0\u3001\u6d4b\u5e8f\u8d28\u91cf\u3001\u6c61\u67d3\u3001\u5efa\u5e93\u8d77\u59cb\u8f6c\u6362\u7387\u7b49\uff09\u3002<\/div>\n
\u00a0<\/div>\n
\u9664\u4e86\u5b9e\u9a8c\u5ba4\u6d4b\u5e8f\u8fc7\u7a0b\u7684\u89c4\u8303\uff0c\u9488\u5bf9\u504f\u4e0a\u6e38\u7684\u6d4b\u5e8f\u6280\u672f\uff0c\u827e\u5409\u6cf0\u5eb7COO\u5c48\u6b66\u658c\u4f5c\u51fa\u51e0\u70b9\u8bf4\u660e\uff1a\u9009\u62e9\u4e0d\u540c\u6d4b\u5e8f\u5e73\u53f0\u548c\u6d4b\u5e8f\u8bfb\u957f\u5e26\u6765\u7684\u5dee\u5f02\u6027\uff1b\u9009\u62e9\u6db2\u76f8\u63a2\u9488\u6742\u4ea4\u6280\u672f\u6216\u8005\u591a\u91cd PCR \u6269\u589e\u6280\u672f\u4ee5\u53ca\u4e0d\u540c\u6355\u83b7\u6280\u672f\uff0c\u4f1a\u6709\u4e0d\u540c\u7684\u751f\u7269\u4fe1\u606f\u5206\u6790\u89c4\u5219\u7b49\u3002\u540c\u65f6\u63d0\u51fa\u73b0\u6709\u7684\u6d4b\u5e8f\u4ee5\u53ca\u6355\u83b7\u6280\u672f\u6709\u4e00\u5b9a\u5c40\u9650\uff0c\u4e0d\u662f\u6bcf\u4e2a\u533a\u57df\u90fd\u5bb9\u6613\u88ab\u6355\u83b7\u5230\u5e76\u6d4b\u5e8f\uff0c\u6bd4\u5982\u9ad8 GC \u53ca\u4f4e GC \u533a\uff0c\u4f4e\u590d\u6742\u5ea6\u533a\uff0c\u9ad8\u5ea6\u76f8\u4f3c\u5e8f\u5217\uff0cSTR\u533a\u7b49\u3002<\/div>\n
\u00a0<\/div>\n
\u5b9e\u9a8c\u540e\u5e94\u7528\u524d\u7684\u9a8c\u8bc1\u548c\u8d28\u63a7\u516c\u5f00\uff0c\u662f\u4e0a\u6d77\u771f\u56fa\u751f\u7269\u8fd0\u8425\u603b\u76d1\u5eb7\u723d\u660e\u5728\u4f1a\u4e0a\u63d0\u5021\u7684\uff0c\u5eb7\u723d\u660e\u8ba4\u4e3aLDT\uff08\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u81ea\u5236\u9879\u76ee\uff09\u5728\u63a8\u5411\u4e34\u5e8a\u670d\u52a1\u4e4b\u524d\u6ca1\u6709\u8fdb\u884c\u5927\u6837\u672c\u7684\u9a8c\u8bc1\u7814\u7a76\uff0c\u8d28\u91cf\u65b9\u9762\u5b58\u5728\u98ce\u9669\u548c\u9690\u60a3\uff0c\u56e0\u6b64\u9700\u8981\u52a0\u5f3a\u5145\u5206\u7684\u9a8c\u8bc1\uff1b\u540c\u65f6\u5efa\u8bae\u5404\u5bb6\u5b9e\u9a8c\u65b9\u6cd5\u548c\u6570\u636e\u7684\u8d28\u63a7\u4fe1\u606f\u516c\u5f00\uff0c\u4fbf\u4e8e\u884c\u4e1a\u76d1\u7763\u548c\u6807\u51c6\u5efa\u7acb\u3002<\/div>\n
\u00a0<\/div>\n
\u5bf9\u4e8e\u901a\u8fc7CLIA\u548cCAP\u53cc\u91cd\u9a8c\u8bc1\u7684\u836f\u660e\u660e\u7801\u5b9e\u9a8c\u5ba4\uff0c\u8d1f\u8d23\u4eba\u5b59\u4e50\u4e50\u8868\u793a\u4e00\u4e2a\u8fd0\u8425\u826f\u597d\u7684\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\uff0c\u5176\u6574\u4f53\u8d28\u91cf\u7ba1\u7406\u4f53\u7cfb\u5e94\u5305\u542b10\u4e2a\u65b9\u9762\u3002\u53ef\u53c2\u8003CLIA\/CAP\/ISO15189\u8d28\u91cf\u7ba1\u7406\u6807\u51c6\u548c\u89c4\u8303\uff0c\u5305\u62ec\uff1a1\uff09\u6587\u4ef6\u7ba1\u7406\uff1b2\uff09\u4eba\u5458\u57f9\u8bad\u548c\u8003\u6838\uff1b3\uff09\u5b89\u5168\u57f9\u8bad\uff1b4\uff09\u4eea\u5668\u7ba1\u7406\uff1b5\uff09\u8bd5\u5242\u7ba1\u7406\uff1b6\uff09\u6837\u672c\u7ba1\u7406\uff1b7\uff09\u65b9\u6cd5\u5b66\u9a8c\u8bc1\uff1b8\uff09\u5bf9\u7167\u6837\u672c\uff1b9\uff09\u5185\u5916\u90e8\u5ba1\u8ba1\uff1b10\uff09\u6301\u7eed\u6539\u8fdb\u8ba1\u5212\uff08CAPA\uff09\u7b49\u3002\u5176\u4e2d\u91cd\u70b9\u662f\u65b9\u6cd5\u5b66\u9a8c\u8bc1\uff08\u9a8c\u8bc1\u8981\u7d20\u5305\u62ec\u6837\u672c\u7c7b\u578b\u548c\u6d4b\u5e8f\u5e73\u53f0\u7684\u9009\u7528\uff0c\u51c6\u786e\u5ea6\uff0c\u7cbe\u786e\u5ea6\uff0c\u91cd\u590d\u6027\uff0c\u6d4b\u91cf\u4e0b\u9650\uff0c\u5b9a\u91cf\u6216\u5b9a\u6027\u65b9\u6cd5\uff0c\u6837\u672c\u8d77\u59cb\u91cf\u63a5\u53d7\u8303\u56f4\u7b49\uff09\u3001\u6280\u672f\u4eba\u5458\u7684\u4e25\u683c\u57f9\u8bad\uff0c\u6837\u672c\u63a5\u6536\u548c\u5f55\u5165\u7684\u53cc\u4eba\u6838\u67e5\u673a\u5236\u7b49\u3002\u540c\u65f6\u7531\u4e8eNGS\u65b9\u6cd5\u5b66\u548c\u64cd\u4f5c\u4e0a\u7684\u590d\u6742\u6027\uff0c\u5efa\u8bae\u91c7\u53d6\u4e00\u4e9b\u6d41\u7a0b\u7ba1\u63a7\u548c\u7279\u6b8a\u65b9\u6cd5\u5b66\uff0c\u53ef\u4ee5\u6709\u6548\u7684\u964d\u4f4e\u548c\u68c0\u67e5\u5b9e\u9a8c\u8fc7\u7a0b\u4e2d\u7684\u51fa\u9519\u7387\u3002<\/div>\n
\u00a0<\/div>\n
\u7efc\u4e0a\u6240\u8ff0\uff0c\u751f\u7269\u4fe1\u606f\u53ca\u5b9e\u9a8c\u5ba4\u8d28\u91cf\u89c4\u8303\u5efa\u7acb\u4e00\u65b9\u9762\u53ef\u4ee5\u501f\u9274CLIA\/CAP\/ISO15189 \u7684\u8d28\u91cf\u7ba1\u7406\u6807\u51c6\u548c\u89c4\u8303\uff0c\u4ece\u6837\u672c\u5f55\u5165\u3001\u4e0a\u673a\u6d4b\u5e8f\u3001\u751f\u7269\u4fe1\u606f\u5206\u6790\u7b49\u8fc7\u7a0b\u6280\u672f\u6807\u51c6\u548c\u7ec8\u7aef\u8d28\u91cf\u6807\u51c6\u8fdb\u884c\u5145\u5206\u7684\u89c4\u8303\uff1b\u53e6\u4e00\u65b9\u9762\uff0c\u6211\u4eec\u4ecd\u9700\u8ba4\u8bc6\u5230\u57fa\u56e0\u68c0\u6d4b\u6280\u672f\u7684\u590d\u6742\u6027\uff0c\u5355\u5355\u5c31\u4e0d\u540c\u6837\u672c\u590d\u6742\u5ea6\u3001\u6d4b\u5e8f\u5e73\u53f0\u3001\u6d4b\u5e8f\u65b9\u6cd5\u3001\u6355\u83b7\u6280\u672f\u7c7b\u578b\u7b49\uff0c\u5373\u53ef\u884d\u751f\u4e0d\u540c\u7684\u89c4\u5219\u3002\u9700\u5404\u57fa\u56e0\u68c0\u6d4b\u65b9\u79ef\u7d2f\u5e76\u5206\u4eab\u7ecf\u9a8c\u3001\u5c55\u793a\u5e76\u7edf\u4e00\u5316\u6807\u51c6\uff0c\u4ecd\u9700\u843d\u5b9e\u5230\u8fd9\u70b9\uff0c\u65b9\u80fd\u63a8\u52a8\u884c\u4e1a\u524d\u884c\u3002<\/div>\n
\u00a0<\/div>\n
\u6b22\u8fce\u5173\u6ce8\u57fa\u56e0\u6167\u516c\u4f17\u53f7\uff08GeneClub-1\uff09\uff0c\u5373\u5c06\u53d1\u5e03\u4e0b\u96c6\uff1a<\/div>\n
\u8bae\u9898\u56db\uff1a\u57fa\u56e0\u53d8\u5f02\u5206\u6790\u89c4\u8303\u8ba8\u8bba<\/div>\n
\u8bae\u9898\u4e94\uff1a\u77e5\u8bc6\u5e93\u5efa\u8bbe\u89c4\u8303\u8ba8\u8bba<\/div>\n
\u8bae\u9898\u516d\uff1a\u6559\u5b66\u57f9\u8bad\u89c4\u8303\u8ba8\u8bba<\/div>\n
\u8bae\u9898\u4e03\uff1a\u653f\u7b56\u53ca\u4f26\u7406\u89c4\u8303\u8ba8\u8bba<\/div>\n
\u00a0<\/div>\n
\u66f4\u591a\u9605\u8bfb<\/div>\n
\u25c6\u00a0 \u00a0\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\u7b79\u59d4\u4f1a\u4f1a\u8bae\u7b2c\u4e8c\u8f6e\u901a\u77e5<\/a><\/div>\n
\u25c6\u00a0 \u00a0\u6167\u8bae\u7b14\u8bb0 | \u9996\u5c4a\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u6807\u51c6\u548c\u89c4\u8303\u4e13\u9898\u7814\u8ba8\u4f1a<\/a><\/div>\n\n
\n
\"RmFicvQBAkgB2Wkia2jicswicwcVoFyjgcfggACN9HiaErH4gXdhT1rGjXrGOpcGb2yWwKlF3VO9l7Dz9E2OP70O2iag\"\/<\/figure><\/div>","protected":false},"excerpt":{"rendered":"

\u57fa\u56e0\u6167\u3010\u6167\u8bae\u7b14\u8bb0\u3011<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"close","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[1820,1932],"class_list":["post-9710","post","type-post","status-publish","format-standard","hentry","category-thinktank","tag-1820","tag-1932"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9710","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/comments?post=9710"}],"version-history":[{"count":3,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9710\/revisions"}],"predecessor-version":[{"id":14223,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9710\/revisions\/14223"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=9710"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=9710"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=9710"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}