{"id":9131,"date":"2020-03-18T12:11:44","date_gmt":"2020-03-18T04:11:44","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100012955&idx=1&sn=a4293fd746b6472005391957bb6f0d30&chksm=6b71412c5c06c83a3bf46bf8e707187124658be76f593b523a0ed5196f21953faccbbe6e1409#rd"},"modified":"2026-04-02T10:12:13","modified_gmt":"2026-04-02T02:12:13","slug":"549956","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2020\/03\/18\/549956\/","title":{"rendered":"\u4e34\u5e8aNGS\u5168\u6d41\u7a0b\u5171\u8bc6\uff08\u4e8c\uff09| \u6837\u54c1\u5904\u7406\u548c\u5b9e\u9a8c\u5ba4\u68c0\u6d4b\u6d41\u7a0b"},"content":{"rendered":"
\n
\"RmFicvQBAkgC5tMD8FqE3BusSMB8iafgXtJycxI4hOiaIBPk8mpq9x3d96uzPSgmBXFfvSoRHkxaKgogWDKibV94QA\"\/<\/figure><\/div>\n\n
\u7ee7\u7b2c\u4e00\u4efd\u5171\u8bc6\u53d1\u8868\u540e\uff0c2019\u5e745\u6708\u53ec\u5f00\u7684\u7b2c\u4e8c\u5c4a\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\u4f1a\u8bae\u53ca\u4f1a\u540e\u591a\u65b9\u8ba8\u8bba\u8fbe\u6210\u300a\u9057\u4f20\u75c5\u4e8c\u4ee3\u6d4b\u5e8f\u4e34\u5e8a\u68c0\u6d4b\u5168\u6d41\u7a0b\u89c4\u8303\u5316\u5171\u8bc6\u63a2\u8ba8\u300b\uff0c\u8fd1\u65e5\u5728\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b\u56db\u7bc7\u540c\u671f\u520a\u53d1\uff0c\u57fa\u56e0\u6167\u7cfb\u5217\u62a5\u9053\u6838\u5fc3\u5185\u5bb9\u3002\u7b2c\u4e8c\u7bc7\u4e3a\uff1a\u6837\u54c1\u91c7\u96c6\u5904\u7406\u53ca\u68c0\u6d4b<\/div>\n
\u6587\u7ae0\/\u57fa\u56e0\u6167\uff08\u516c\u4f17\u53f7\uff1aGeneClub-1)<\/div>\n
\u8d44\u6599\/\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u7f16\u8f91\/Dylan<\/div>\n
\u5173\u952e\u8bcd\/\u884c\u4e1a\u5171\u8bc6\u00a0\u5c01\u9762\u56fe\/\u6742\u5fd7<\/div>\n
\u00a0<\/div>\n
\u5212\u91cd\u70b9<\/div>\n
1. \u6ca1\u6709\u7cbe\u51c6\u68c0\u6d4b\u5c31\u6ca1\u6709\u7cbe\u51c6\u533b\u7597\uff0c\u76ee\u524d\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u5c1a\u6ca1\u6709\u7edf\u4e00\u6807\u51c6\uff0c\u90e8\u5206\u4ecd\u6cbf\u7528\u79d1\u7814\u6807\u51c6\u8fdb\u884c\u4e34\u5e8a\u68c0\u6d4b\uff0c\u4e9f\u9700\u89c4\u8303\u5316\uff0c\u7279\u522b\u662f\u6280\u672f\u7ec6\u8282\u3001\u8d28\u91cf\u63a7\u5236\u3001\u8d28\u91cf\u8bc4\u4ef7\u7684\u5177\u4f53\u5185\u5bb9\uff1b<\/div>\n
2. \u5b9e\u9a8c\u5ba4\u9996\u5148\u5e94\u9075\u5b88\u4e34\u5e8a\u76f8\u5173\u56fd\u5185\u6587\u4ef6\u89c4\u8303\u8981\u6c42\uff0c\u5b9e\u884c\u5206\u533a\uff0c\u9075\u5b88\u751f\u7269\u5b89\u5168\u8981\u6c42\uff1b\u6837\u672c\u91c7\u96c6\u3001\u8fd0\u8f93\u4e0e\u5b58\u50a8\u5e94\u6839\u636e\u4e0d\u540c\u6837\u672c\u7c7b\u578b\u8fdb\u884c\u64cd\u4f5c\uff0c\u89c1\u6587\u4e2d\u8868\u683c\u5f52\u7eb3\uff1b<\/div>\n
3. \u8d28\u91cf\u63a7\u5236\u5305\u62ec\u6838\u9178\u8d28\u63a7\u3001\u6587\u5e93\u8d28\u63a7\u3001\u6d4b\u5e8f\u6570\u636e\u8d28\u63a7\uff0c\u7279\u522b\u662f\u6587\u5e93\u6784\u5efa\u9700\u8bc4\u4f30\u8bd5\u5242\u6709\u6548\u6027\uff0c\u6d4b\u5e8f\u9700\u8bc4\u4f30\u4e0d\u540c\u8bd5\u5242\u6279\u6b21\u548c\u56fa\u5b9a\u65f6\u95f4\u95f4\u9694\u4e0b\u7684\u4eea\u5668\u635f\u8017\u7684\u7a33\u5b9a\u6027\uff1b<\/div>\n
4. \u6837\u672c\u8ffd\u8e2a\u5305\u62ec\u6027\u522b\u4e00\u81f4\u6027\u9274\u5b9a\u548cSNP\u4e00\u81f4\u6027\u9274\u5b9a\uff1b\u81f3\u5c11\u6dfb\u52a0\u4e00\u4e2a\u9633\u6027\u8d28\u63a7\u3001\u4e00\u4e2a\u9634\u6027\u8d28\u63a7\u6216\u7a7a\u767d\u5bf9\u7167\u4e0e\u5e38\u89c4\u6837\u672c\u540c\u65f6\u68c0\u6d4b\u8fdb\u884c\u8d28\u91cf\u8bc4\u4ef7\u3002<\/div>\n
\u00a0<\/div>\n
\u91cd\u4e34\u5e8aNGS\u5168\u6d41\u7a0b\u5171\u8bc6\u7684\u7531\u6765<\/div>\n\n
\n
\"RmFicvQBAkgC5tMD8FqE3BusSMB8iafgXtQwwmibiagbYEQpm5z1frV9PIicaahUAV3r2K9W655qaPDNUX1I6xMFGgg\"\/<\/figure><\/div>\n\n
\n\n
\n
\"RmFicvQBAkgC5tMD8FqE3BusSMB8iafgXteDFibvlyUO3L1qbbuG9iauic9mz8gf2bcPeKTvVVibgySibKVRUTtEiawLlA\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
\n
\"RmFicvQBAkgC5tMD8FqE3BusSMB8iafgXtHZSaC8qLKH3Knlzso7wxvaY0f6oXGO8GWDXm6msB6xwrAQA1WsMLmA\"\/<\/figure><\/div>\n\n
\u25b3\u00a0\u56fe\uff1a\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\uff08\u7b79\uff09\u5386\u5c4a\u4f1a\u8bae\u5408\u5f71\uff08\u6765\u6e90\/\u57fa\u56e0\u6167\uff09<\/div>\n
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\u00a0<\/div>\n
\u4e3a\u63a8\u8fdb\u57fa\u56e0\u68c0\u6d4b\u884c\u4e1a\u7684\u5065\u5eb7\u6709\u5e8f\u53d1\u5c55\uff0c\u914d\u5408\u76f8\u5173\u90e8\u95e8\u548c\u4e34\u5e8a\u9057\u4f20\u4e13\u5bb6\u7ec4\u5236\u8ba2\u89c4\u8303\u5e76\u843d\u5730\u5b9e\u65bd\uff0c\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\uff08\u7b79\uff09\u7ec4\u7ec7\u4e34\u5e8a\u4e13\u5bb6\u3001\u9057\u4f20\u5b66\u5bb6\u4ee5\u53ca\u7b2c\u4e09\u65b9\u57fa\u56e0\u68c0\u6d4b\u673a\u6784\u5f00\u5c55\u7814\u8ba8\u4f1a\u548c\u6307\u5b9a\u884c\u4e1a\u5171\u8bc6\u3002<\/div>\n
\u00a0<\/div>\n
2017\u5e7410\u6708\u5728\u6df1\u5733\u53ec\u5f00\u9996\u5c4a\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u6807\u51c6\u548c\u89c4\u8303\u7814\u8ba8\u4f1a\uff0c\u4f1a\u540e\u53c2\u4f1a\u4e13\u4e1a\u4eba\u58eb\u5171\u540c\u7f16\u5199\u300a\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u89c4\u8303\u4e0e\u57fa\u56e0\u68c0\u6d4b\u884c\u4e1a\u5171\u8bc6\u63a2\u8ba8\u300b\uff0c\u4e8e2018\u5e742\u6708\u53d1\u8868\u5728\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b\uff08\u70b9\u51fb\u8be6\u60c5<\/a>\uff09\u30022019\u5e745\u6708\u5728\u4e0a\u6d77\u53ec\u5f00\u7b2c\u4e8c\u5c4a\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\u4f1a\u8bae\uff0c\u4f1a\u540e\u5f62\u6210\u300a\u9057\u4f20\u75c5\u4e8c\u4ee3\u6d4b\u5e8f\u4e34\u5e8a\u68c0\u6d4b\u5168\u6d41\u7a0b\u89c4\u8303\u5316\u5171\u8bc6\u63a2\u8ba8\u300b\uff08\u7b80\u79f0\u201c\u4e34\u5e8aNGS\u5168\u6d41\u7a0b\u5171\u8bc6\u201d\uff09\u53d1\u8868\u5728\u8fd1\u671f\u7684\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b\uff08\u70b9\u51fb\u8be6\u60c5<\/a>\uff09\u3002<\/div>\n
\u4e34\u5e8aNGS\u5168\u6d41\u7a0b\u5171\u8bc6\u6db5\u76d6\u6280\u672f\u8981\u70b9\u548c\u8d28\u91cf\u63a7\u5236\u7b49\uff0c\u5206\u4e3a\u56db\u4e2a\u90e8\u5206\uff1a1\uff09\u9057\u4f20\u68c0\u6d4b\u524d\u6d41\u7a0b<\/a>\uff1b2\uff09\u6837\u54c1\u91c7\u96c6\u5904\u7406\u53ca\u68c0\u6d4b\uff1b3\uff09\u6570\u636e\u5206\u6790\u6d41\u7a0b\uff1b4\uff09\u68c0\u6d4b\u62a5\u544a\u89e3\u8bfb\u548c\u9057\u4f20\u54a8\u8be2\u3002<\/div>\n
\u00a0<\/div>\n
\u672c\u6587\u4e3a\u5171\u8bc6\u7684\u7b2c\u4e8c\u90e8\u5206\u300a\u6837\u54c1\u91c7\u96c6\u5904\u7406\u53ca\u68c0\u6d4b\u300b\u7684\u6838\u5fc3\u5185\u5bb9\u3002\u4f5c\u8005\u4ecb\u7ecd\u89c1\u4e0b\u56fe\u3002<\/div>\n\n
\n
\"RmFicvQBAkgCPyHEHoD4lAaIN69Cos4AwARanskHZbBB6sxHDMRkhFh964lUq5Vm1gNACSSkAabvreGckLiamAyA\"\/<\/figure><\/div>\n\n
\u25b3\u56fe\uff1a\u00a0\u5171\u8bc6\u7b2c\u4e8c\u90e8\u5206\u4f5c\u8005\u53ca\u4f5c\u8005\u5355\u4f4d<\/div>\n
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\u5171\u8bc6\u300a\u6837\u54c1\u91c7\u96c6\u5904\u7406\u53ca\u68c0\u6d4b\u300b\u5185\u5bb9<\/div>\n
1. \u5171\u8bc6\u300a\u6837\u54c1\u91c7\u96c6\u5904\u7406\u53ca\u68c0\u6d4b\u300b\u7684\u80cc\u666f<\/div>\n
\u8fd1\u5e74\u6765\uff0c\u56fd\u5185\u5916\u4e8c\u4ee3\u6d4b\u5e8f\u5e02\u573a\u7ade\u4e89\u7684\u53c2\u4e0e\u8005\u4e0d\u65ad\u51fa\u73b0\uff0c\u4e0d\u5c11\u516c\u53f8\u5747\u5f00\u5c55\u4e86\u57fa\u4e8e\u4e8c\u4ee3\u6d4b\u5e8f\u7684\u4e34\u5e8a\u68c0\u6d4b\u670d\u52a1\uff0c\u5982\u7b5b\u67e5\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u7684\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff08non-invasive prenatal testing\uff0cNIPT\uff09\u3001\u80bf\u7624\u7684\u4e2a\u4f53\u5316\u6cbb\u7597\u7b49\u3002\u76f8\u5173\u884c\u4e1a\u89c4\u8303\u548c\u6cd5\u89c4\u7684\u51fa\u53f0\uff0c\u76f4\u63a5\u4fc3\u8fdb\u4e86NIPT\u68c0\u6d4b\u5e02\u573a\u7684\u6709\u5e8f\u53d1\u5c55\u548c\u7e41\u8363\u3002<\/div>\n
\u00a0<\/div>\n
\u9057\u4f20\u75c5\u7684\u4ea7\u524d\u8bca\u65ad\u53ca\u7b5b\u67e5\u3001\u5355\u57fa\u56e0\u548c\u591a\u57fa\u56e0\u9057\u4f20\u75c5\u7684\u68c0\u6d4b\u548c\u54a8\u8be2\u7b49\u4e5f\u5728\u6210\u4e3a\u4e00\u4e2a\u91cd\u8981\u7684\u5e94\u7528\u65b9\u5411\uff0c\u56e0\u6b64\u4e5f\u4e9f\u9700\u4e00\u5957\u8986\u76d6\u5b9e\u9a8c\u5ba4\u68c0\u6d4b\u6807\u51c6\u548c\u7ba1\u7406\u89c4\u8303\u7684\u884c\u4e1a\u89c4\u8303\u5171\u8bc6\uff0c\u6307\u5bfc\u5c06\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u7528\u4e8e\u9057\u4f20\u75c5\u7684\u4e34\u5e8a\u8bca\u65ad\u6216\u7b5b\u67e5\u5b9e\u9a8c\u5ba4\uff0c\u4ee5\u63d0\u4f9b\u7a33\u5b9a\u3001\u53ef\u9760\u3001\u6709\u6548\u7684\u68c0\u6d4b\u6570\u636e\uff0c\u7528\u4e8e\u4e34\u5e8a\u8f85\u52a9\u8bca\u65ad\u6216\u7b5b\u67e5\u5de5\u4f5c\u3002<\/div>\n
\u672c\u5171\u8bc6\u65e8\u5728\u4e3a\u4ece\u4e8b\u9057\u4f20\u75c5\u4e8c\u4ee3\u6d4b\u5e8f\u68c0\u6d4b\u7684\u5b9e\u9a8c\u5ba4\u5efa\u7acb\u4ece\u6837\u672c\u91c7\u96c6\u5230\u4ea7\u751f\u4e8c\u4ee3\u6d4b\u5e8f\u6570\u636e\u7684\u5168\u6d41\u7a0b\u89c4\u8303\u5316\u7ba1\u7406\u63d0\u4f9b\u6307\u5bfc\u3002<\/div>\n
\u00a0<\/div>\n
2. \u5171\u8bc6\u5185\u5bb9\uff1a\u9057\u4f20\u75c5\u4e8c\u4ee3\u6d4b\u5e8f\u4e34\u5e8a\u68c0\u6d4b\u6d41\u7a0b<\/div>\n
1\uff09\u5e94\u9075\u5b88\u7684\u6587\u4ef6\u8981\u6c42\uff1a<\/div>\n
\u25a1\u00a0\u603b\u4f53\u8bbe\u7f6e\u4e0e\u8fd0\u884c\u6807\u51c6\u5e94\u7b26\u5408\uff1a\u300a\u4e34\u5e8a\u673a\u6784\u5b9e\u9a8c\u5ba4\u7ba1\u7406\u89c4\u8303\u300b\uff08\u536b\u59d4\u53d1[2006]73\u53f7\uff09\u3002<\/div>\n
\u25a1\u00a0\u8bbe\u8ba1\u6807\u51c6\u3001\u5de5\u4f5c\u57fa\u672c\u539f\u5219\u4ee5\u53ca\u6ce8\u610f\u4e8b\u9879\u5e94\u7b26\u5408\u300a\u533b\u7597\u673a\u6784\u4e34\u5e8a\u57fa\u56e0\u6269\u589e\u68c0\u9a8c\u5b9e\u9a8c\u5ba4\u7ba1\u7406\u529e\u6cd5\u300b\uff08\u536b\u529e\u533b\u653f\u53d1[2010]10\u53f7\uff09\u53ca\u5176\u9644\u4ef6\u300a\u533b\u7597\u673a\u6784\u4e34\u5e8a\u57fa\u56e0\u6269\u589e\u68c0\u9a8c\u5b9e\u9a8c\u5ba4\u5de5\u4f5c\u5bfc\u5219\u300b\u7684\u8981\u6c42\u3002<\/div>\n
\u25a1\u00a0\u5b9e\u9a8c\u5ba4\u5b89\u5168\u5de5\u4f5c\u5236\u5ea6\u6216\u5b89\u5168\u6807\u51c6\u64cd\u4f5c\u7a0b\u5e8f\u5e94\u7b26\u5408\u300a\u5b9e\u9a8c\u5ba4\u751f\u7269\u5b89\u5168\u901a\u7528\u8981\u6c42\u300b\uff08GB19489-2008\uff09\u3002<\/div>\n
\u00a0<\/div>\n
2\uff09\u5b9e\u9a8c\u5ba4\u5206\u533a\u539f\u5219<\/div>\n
\u539f\u5219\u4e0a\uff0c\u4e34\u5e8a\u4e8c\u4ee3\u6d4b\u5e8f\u5b9e\u9a8c\u5ba4\u5e94\u8bbe\u7f6e\u4ee5\u4e0b\u533a\u57df\uff1a\u6837\u672c\u63a5\u6536\u4e0e\u5b58\u50a8\u533a\u3001\u8bd5\u5242\u5b58\u50a8\u4e0e\u51c6\u5907\u533a\u57df\u3001\u6837\u672c\u5236\u5907\u533a\u3001\u6587\u5e93\u5236\u5907\u533a\u3001\u6269\u589e\u53ca\u6d4b\u5e8f\u533a\u3002\u8fd95\u4e2a\u533a\u57df\u5728\u7a7a\u95f4\u4e0a\u5fc5\u987b\u5b8c\u5168\u76f8\u4e92\u72ec\u7acb\uff0c\u62e5\u6709\u4e25\u683c\u7684\u5de5\u4f5c\u533a\u7a7a\u6c14\u53ca\u4eba\u5458\u6d41\u5411\uff0c\u4ee5\u6709\u6548\u9632\u6b62\u6837\u672c\u6838\u9178\u63d0\u53d6\u53ca\u5efa\u5e93\u6269\u589e\u7b49\u8fc7\u7a0b\u6240\u53d1\u751f\u7684\u6c61\u67d3\u3002<\/div>\n
3\uff09\u751f\u7269\u5b89\u5168\u57fa\u672c\u8981\u6c42<\/div>\n
\u4e34\u5e8a\u6837\u672c\u5904\u7406\u53ca\u5236\u5907\u533a\u5e94\u7b26\u5408\u751f\u7269\u5b89\u5168\u4e8c\u7ea7\u5b9e\u9a8c\u5ba4\u5bf9\u4e8e\u9632\u62a4\u8bbe\u5907\u3001\u4e2a\u4eba\u9632\u62a4\u548c\u64cd\u4f5c\u89c4\u8303\u7684\u8981\u6c42\u3002\u5373\u4f7f\u662f\u666e\u901a\u7684\u75c5\u7406\u7ec4\u7ec7\u6216\u8840\u6db2\u6837\u672c\uff0c\u4e5f\u53ef\u80fd\u5b58\u5728\u75c5\u539f\u4f53\uff08\u5982HIV\u3001HBV\u3001HCV\u7b49\uff09\uff0c\u5b58\u5728\u5bfc\u81f4\u64cd\u4f5c\u4eba\u5458\u88ab\u611f\u67d3\u7684\u98ce\u9669\u3002<\/div>\n
4\uff09\u4e8c\u4ee3\u6d4b\u5e8f\u5b9e\u9a8c\u5ba4\u6d41\u7a0b<\/div>\n\n
\n
\"RmFicvQBAkgCPyHEHoD4lAaIN69Cos4Aw0S5lQOuqfEKG8qSKjQib8o5FAe2OPuflTsX0qoqtUibvT9WTVMxyFRBw\"\/<\/figure><\/div>\n\n<\/div>\n
\u4e8c\u4ee3\u6d4b\u5e8f\u68c0\u6d4b\u7684\u5b9e\u9a8c\u6280\u672f\u6b65\u9aa4\u5305\u62ec\u60a3\u8005\u6837\u672c\u7684\u91c7\u96c6\u4e0e\u8fd0\u8f93\u3001\u6837\u672c\u63a5\u6536\u4e0e\u5b58\u50a8\uff0c\u6838\u9178\u63d0\u53d6\uff0c\u6dfb\u52a0\u4e2a\u6027\u5316\u5206\u5b50\u6807\u7b7e\uff0c\u6587\u5e93\u6784\u5efa\uff08\u5305\u62ec\u6838\u9178\u6837\u672c\u5747\u4e00\u5316\u3001\u7247\u6bb5\u5316\u3001\u5916\u663e\u5b50\u7ec4\u6216\u7279\u5b9a\u533a\u57df\u9776\u5411\u5bcc\u96c6\u3001\u63a5\u5934\u8fde\u63a5\u3001\u6269\u589e\u3001\u6587\u5e93\u5747\u4e00\u5316\uff09\u548c\u4e0a\u673a\u6d4b\u5e8f\uff0c\u5982\u56fe1\u793a\u4f8b\u3002<\/div>\n
2.1\u00a0\u4e34\u5e8a\u6837\u672c\u91c7\u96c6\u4e0e\u8f6c\u8fd0<\/div>\n
1\uff09\u6837\u672c\u91c7\u96c6\u6ce8\u610f\u4e8b\u9879<\/div>\n
\u5bf9\u4e0d\u540c\u7684\u6837\u672c\u5e94\u91c7\u53d6\u4e0d\u540c\u7684\u8981\u6c42\u548c\u6807\u51c6\u6765\u91c7\u96c6\u5305\u542b\u57fa\u56e0\u7ec4DNA\u7684\u751f\u7269\u6837\u672c\uff0c\u5305\u62ec\u4f46\u4e0d\u9650\u4e8e\u5168\u8840\u3001\u553e\u6db2\u3001\u5e72\u8840\u7247\u3001\u7ec4\u7ec7\u548c\u5df2\u63d0\u53d6\u7684DNA\u7b49\u3002<\/div>\n
<\/div>\n
\u5728\u6837\u672c\u91c7\u96c6\u524d\uff0c\u5e94\u5411\u53d7\u68c0\u8005\u6216\u5176\u76d1\u62a4\u4eba\u4ecb\u7ecd\u68c0\u6d4b\u77e5\u60c5\u540c\u610f\u4e66\u7684\u6761\u6b3e\uff0c\u6307\u5bfc\u5176\u7b7e\u7f72\u77e5\u60c5\u540c\u610f\u4e66\u3002\u4e4b\u540e\u5e2e\u52a9\u6216\u6307\u5bfc\u53d7\u68c0\u8005\u6216\u5176\u76d1\u62a4\u4eba\u586b\u5199\u68c0\u6d4b\u7533\u8bf7\u5355\uff0c\u6838\u5bf9\u7533\u8bf7\u5355\u4e0e\u53d7\u68c0\u8005\u7684\u57fa\u672c\u4fe1\u606f\u662f\u5426\u4e00\u81f4\uff0c\u68c0\u67e5\u53d7\u68c0\u8005\u662f\u5426\u6309\u7167\u533b\u5631\u51c6\u5907\uff0c\u5e76\u5411\u5176\u89e3\u91ca\u64cd\u4f5c\u7684\u76ee\u7684\u4ee5\u53d6\u5f97\u914d\u5408\u3002<\/div>\n
<\/div>\n
\u91c7\u96c6\u6837\u672c\u65f6\uff0c\u5219\u9700\u786e\u8ba4\u91c7\u8840\u7ba1\u4e0a\u7684\u53d7\u68c0\u8005\u4fe1\u606f\u6e05\u695a\uff0c\u4e14\u4e0e\u68c0\u6d4b\u7533\u8bf7\u5355\u4e0a\u7684\u4fe1\u606f\u4e00\u81f4\u3002\u5e76\u6807\u660e\u53d7\u68c0\u8005\u59d3\u540d\u3001\u5e74\u9f84\u3001\u68c0\u6d4b\u9879\u76ee\u7b49\u4fe1\u606f\u3002<\/div>\n
<\/div>\n
<\/div>\n
2\uff09\u6837\u672c\u7684\u91c7\u96c6\u3001\u8fd0\u8f93\u4e0e\u5b58\u50a8\u53c2\u8003<\/div>\n
\n\n
\n
\"RmFicvQBAkgCPyHEHoD4lAaIN69Cos4AwZERhiaNxBZ9R7D4FRCbxdabySnR16QWTFkIo7tic92joVQP5fN2xg1IA\"\/<\/figure><\/div>\n\n
\u25b3\u56fe\uff1a\u00a0\u6837\u672c\u7684\u91c7\u96c6\u3001\u8fd0\u8f93\u4e0e\u5b58\u50a8\u53c2\u8003<\/div>\n
\uff08\u6765\u6e90\/\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b\uff0c\u5236\u8868\/\u57fa\u56e0\u6167\uff09<\/div>\n
2.2\u00a0\u6837\u672c\u63a5\u6536\u4e0e\u4fdd\u5b58<\/div>\n
\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u7684\u6837\u672c\u63a5\u6536\u4eba\u5458\u8d1f\u8d23\u68c0\u67e5\u6837\u672c\u91cf\u3001\u6837\u672c\u7c7b\u578b\u662f\u5426\u7b26\u5408\u68c0\u6d4b\u8981\u6c42\uff0c\u5e76\u6838\u67e5\u968f\u6837\u672c\u5bc4\u9001\u7684\u68c0\u6d4b\u7533\u8bf7\u5355\u4fe1\u606f\u662f\u5426\u5b8c\u6574\uff0c\u5e76\u6838\u5bf9\u5176\u4e0e\u7535\u5b50\u7248\u672c\u7684\u4e00\u81f4\u6027\u3002\u5efa\u8bae\u4e00\u5bf9\u4e00\u751f\u6210\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u5185\u90e8\u7f16\u53f7\uff0c\u7528\u4e8e\u540e\u7eed\u7684\u5b9e\u9a8c\u6d41\u8f6c\uff0c\u4ee5\u4fdd\u62a4\u53d7\u68c0\u8005\u7684\u9690\u79c1\u4fe1\u606f\u3002<\/div>\n
\u7528\u4e8e\u57fa\u56e0\u68c0\u6d4b\u7684\u6837\u672c\u5e94\u7531\u533b\u9662\u957f\u671f\u4fdd\u5b58\uff08\u5efa\u8bae\u81f3\u5c11\u4fdd\u5b582\u5e74\uff09\u3002<\/div>\n
\u00a0<\/div>\n
2.3\u00a0\u5b9e\u9a8c\u5ba4NGS\u68c0\u6d4b\u6d41\u7a0b\u4e2d\u7684\u8d28\u91cf\u63a7\u5236<\/div>\n
1\uff09DNA\u63d0\u53d6\u3001\u8d28\u63a7\u3001\u4fdd\u5b58\u4e0e\u5185\u90e8\u8f6c\u8fd0<\/div>\n
\u5bf9\u4e8e\u5e38\u89c4\u7684\u4e8c\u4ee3\u6d4b\u5e8f\u68c0\u6d4b\uff0c\u6838\u9178\u62bd\u63d0\u73af\u8282\u7684\u8d28\u91cf\u63a7\u5236\u9700\u8981\u8003\u8651\uff1aDNA\u7684A260\/A280<\/div>\n
\u503c\u5e94\u57281.6~2.2\u4e4b\u95f4\uff0c\u743c\u8102\u7cd6\u51dd\u80f6\u7535\u6cf3\u7ed3\u679cDNA\u4e3b\u5e26\u660e\u663e\uff0c\u65e0\u660e\u663e\u964d\u89e3\uff0c\u65e0\u660e\u663e\u7684\u86cb\u767d\u8d28\u3001\u591a\u7cd6\u548cRNA\u6c61\u67d3\uff0c\u8fd9\u4e9b\u662fDNA\u5b9a\u6027\u5206\u6790\u7ed3\u8bba\u6700\u57fa\u672c\u7684\u8981\u6c42\u3002<\/div>\n
\u00a0<\/div>\n
\u6838\u9178\u62bd\u53d6\u5269\u4f59\u90e8\u5206\u7684DNA\uff0c\u82e5\u5ba2\u6237\u77ed\u671f\u5185\u6ca1\u6709\u8fd4\u8fd8\u6837\u672c\u7684\u9700\u6c42\uff0c\u5efa\u8bae\u68c0\u6d4b\u673a\u6784\u5bf9\u5176\u59a5\u5584\u4fdd\u7ba1\u3002DNA\u53ef\u77ed\u671f\u4fdd\u5b58\u57284\u2103\uff084\u5468\uff09\u6216-20\u2103\uff081\u5e74\uff09\uff0c\u957f\u671f\u4fdd\u5b58\u4e8e-80\u2103\uff087\u5e74\uff09\uff0c\u4e14\u53cd\u590d\u51bb\u878d\u4e0d\u8d85\u8fc73\u6b21\u3002<\/div>\n
\u6837\u672c\u5728\u5b9e\u9a8c\u5ba4\u5185\u90e8\u7684\u8f6c\u8fd0\uff0c\u5efa\u8bae\u4fdd\u8bc1\u6807\u7b7e\u7684\u4e00\u81f4\u6027\u548c\u53ef\u6eaf\u6e90\u6027\uff0c\u91c7\u53d6\u53ef\u8bc6\u522b\u7684\u7f16\u53f7\uff0c\u540c\u65f6\u53cd\u6620\u6837\u672c\u7684\u4e0d\u540c\u72b6\u6001<\/div>\n
\u00a0<\/div>\n
2\uff09\u6587\u5e93\u6784\u5efa\u53ca\u8d28\u63a7<\/div>\n
\u6587\u5e93\u6784\u5efa\u662f\u6574\u4e2a\u4e8c\u4ee3\u6d4b\u5e8f\u8fdb\u7a0b\u4e2d\u6781\u4e3a\u91cd\u8981\u7684\u4e00\u73af\uff0c\u5176\u8d28\u91cf\u7684\u597d\u574f\u5c06\u76f4\u63a5\u5f71\u54cd\u540e\u7eed\u7684\u6d4b\u5e8f\u6570\u636e\u8d28\u91cf\u3002\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5c3d\u7ba1\u53d1\u5c55\u8fc5\u901f\uff0c\u4f46\u57fa\u56e0\u6587\u5e93\u7684\u6784\u5efa\u4ecd\u662f\u4e00\u9879\u5341\u5206\u8017\u65f6\u4e14\u590d\u6742\u7684\u5de5\u4f5c\uff0c\u65e0\u8bba\u4f7f\u7528\u54ea\u79cd\u8bd5\u5242\u7528\u4e8e\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\uff0c\u9996\u5148\u90fd\u5e94\u8be5\u6709\u4e00\u5957\u53ef\u9760\u7684\u5b9e\u9a8c\u65b9\u6cd5\u6765\u8bc4\u4f30\u5176\u6709\u6548\u6027\uff0c\u4e14\u9700\u8981\u7ecf\u8fc7\u4e00\u6bb5\u65f6\u95f4\u7684\u8bd5\u7528\u671f\u6765\u590d\u9a8c\u3002<\/div>\n
\u00a0<\/div>\n
\u6587\u5e93\u6784\u5efa\u8fc7\u7a0b\u7684\u8d28\u63a7\u5305\u62ec\uff1a<\/div>\n
\uff081\uff09\u6309\u5df2\u9a8c\u8bc1\u7684\u68c0\u6d4b\u6d41\u7a0b\u5b9e\u65bd\u6587\u5e93\u7684\u6784\u5efa\u3002\u9996\u5148\u5e94\u63a2\u7d22\u51fa\u6709\u6548\u4e14\u6ee1\u8db3\u5efa\u5e93\u9700\u6c42\u7684\u6700\u4f4e\u8d77\u59cb\u5efa\u5e93DNA\u8f93\u5165\u503c\uff0c\u5373\u68c0\u6d4b\u9650\u5ea6\u3002\u8fd0\u7528\u6db2\u76f8\u6742\u4ea4\u6355\u83b7\u7684\u65b9\u6cd5\uff0c\u5efa\u8bae\u7684\u6837\u672c\u8d77\u59cb\u91cf\u4e3a200 ng\uff1b\u5bf9\u4e8e\u6269\u589e\u5b50\u6355\u83b7\u5b9e\u9a8c\uff0c\u5219\u5efa\u8bae\u4ee510 ng\u4e3a\u8d77\u59cb\u91cf\uff1b<\/div>\n
\uff082\uff09\u5efa\u8bae\u5728\u5efa\u5e93\u8fc7\u7a0b\u4e2d\u540c\u65f6\u8bbe\u7f6e\u7a7a\u767d\u9634\u6027\u5bf9\u7167\u5e76\u4f7f\u7528\u6807\u51c6\u54c1\u4f5c\u4e3a\u9633\u6027\u5bf9\u7167\u3002\u6807\u51c6\u54c1\u53ef\u4ee5\u9009\u7528\u5546\u54c1\u5316\u7684\u7ec6\u80de\u7cfb\u6807\u51c6\u6837\u672c\u6216\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u5df2\u9a8c\u8bc1\u8fc7\u7684\u6837\u672c\uff0c\u7528\u4e8e\u76d1\u6d4b\u5b9e\u9a8c\u5ba4\u65e5\u5e38\u68c0\u6d4b\u7684\u53ef\u91cd\u590d\u6027\u548c\u518d\u73b0\u6027\uff0c\u4ee5\u53ca\u5f53\u6279\u6b21\u4e34\u5e8a\u6837\u672c\u68c0\u6d4b\u7684\u6709\u6548\u6027\uff1b<\/div>\n
\uff083\uff09\u5bf9\u6784\u5efa\u597d\u7684\u6587\u5e93\u8fdb\u884c\u8d28\u63a7\u65f6\uff0c\u9700\u8981\u6839\u636e\u4e0d\u540c\u9879\u76ee\u7684\u8981\u6c42\u6765\u76d1\u63a7\u6587\u5e93\u7684\u6d53\u5ea6\u6216\u603b\u91cf\u3001\u4ea7\u7269\u7247\u6bb5\u7684\u957f\u5ea6\u53ca\u5206\u5e03\u3001\u9634\u6027\u53ca\u9633\u6027\u5bf9\u7167\u7684\u6587\u5e93\u8d28\u68c0\u60c5\u51b5\uff0c\u5e76\u5236\u5b9a\u63a5\u53d7\u6216\u62d2\u7edd\u7684\u6807\u51c6\uff0c\u4ee5\u5224\u5b9a\u6279\u6b21\u5efa\u5e93\u7684\u6210\u529f\u4e0e\u5426\u3002\u6587\u5e93\u8d28\u63a7\u7684\u5177\u4f53\u6807\u51c6\u9700\u6839\u636e\u68c0\u6d4b\u7b56\u7565\u7684\u4e0d\u540c\u5236\u5b9a\u51fa\u7279\u5f02\u6027\u7684\u6807\u51c6\uff0c\u4e0d\u80fd\u4e00\u6982\u800c\u8bba\u3002\u6b64\u5916\uff0c\u5efa\u8bae\u5c06\u6587\u5e93\u6784\u5efa\u5b9e\u9a8c\u7684\u4e2d\u95f4\u4ea7\u7269\u4fdd\u5b581\u4e2a\u6708\u3002<\/div>\n
\u00a0<\/div>\n
3\uff09\u4e0a\u673a\u6d4b\u5e8f\u4e0e\u8d28\u63a7<\/div>\n
\u6d4b\u5e8f\u4eea\u662f\u57fa\u56e0\u6d4b\u5e8f\u7684\u91cd\u8981\u5de5\u5177\uff0c\u76ee\u524d\u5e02\u573a\u4e0a\u7684\u4e8c\u4ee3\u6d4b\u5e8f\u4eea\u4e3b\u8981\u5305\u62ecIllumina\u3001Thermo Fisher\u53ca\u534e\u5927\u667a\u9020\u7b49\u5382\u5546\u63d0\u4f9b\u7684\u5177\u6709\u4e0d\u540c\u901a\u91cf\u3001\u8bfb\u957f\u53ca\u7814\u7a76\u9002\u914d\u7684\u6d4b\u5e8f\u4eea\u5668\u3002<\/div>\n
\u6d4b\u5e8f\u65f6\u5e94\u6839\u636e\u68c0\u6d4b\u7684\u6837\u672c\u91cf\u548c\u8d28\u91cf\u8981\u6c42\uff0c\u786e\u5b9a\u9002\u5b9c\u7684\u6d4b\u5e8f\u5e73\u53f0\u4e0e\u65b9\u6848\uff0c\u4ee5\u4fdd\u8bc1\u4e34\u5e8a\u9057\u4f20\u75c5\u7684\u4e8c\u4ee3\u6d4b\u5e8f\u6570\u636e\u80fd\u591f\u6ee1\u8db3\u6570\u636e\u8d28\u91cf\u53ca\u9776\u5411\u533a\u57df\u8986\u76d6\u5ea6\u7b49\u9700\u6c42\u3002\u5b9e\u9a8c\u5ba4\u5e94\u5177\u5907\u6ee1\u8db3\u6d4b\u5e8f\u4eea\u7684\u6b63\u5e38\u8fd0\u884c\u6240\u5fc5\u9700\u7684\u5b9e\u9a8c\u5ba4\u6d01\u51c0\u5ea6\u3001\u6e29\/\u6e7f\u5ea6\u3001\u9632\u9707\u548c\u5149\u7167\u7b49\u6761\u4ef6\u3002<\/div>\n
\u00a0<\/div>\n
\u6d4b\u5e8f\u8d28\u91cf\u7684\u53c2\u8003\u503c\u4e3a\uff1a\u6d4b\u5e8f\u6570\u636e\u7684\u5355\u78b1\u57fa\u8d28\u91cf\u8bc4\u4f30\u6307\u6570\uff08Q30\uff09\u2265 70%\uff0c\u540c\u65f6\u6587\u5e93\u590d\u6742\u5ea6\u7684\u6307\u793a\u503c\u91cd\u590d\u8bfb\u6570\u767e\u5206\u6bd4\uff08duplication reads rate\uff09\u4e5f\u9700\u8981\u63a7\u5236\u5728\u4e00\u5b9a\u7684\u8303\u56f4\u5185\uff0c\u76ee\u6807\u533a\u57df\u7684\u5e73\u5747\u6df1\u5ea6\u5e94\u6839\u636e\u68c0\u6d4b\u7b56\u7565\u5bf9\u57fa\u56e0\u53d8\u5f02\u5224\u5b9a\u6240\u9700\u7684\u6570\u636e\u6df1\u5ea6\u7684\u9700\u6c42\u800c\u5b9a\u3002<\/div>\n
\u00a0<\/div>\n
\u56e0\u6d89\u53ca\u4eea\u5668\u635f\u8017\u4e0e\u8bd5\u5242\u6279\u6b21\u95f4\u7684\u5dee\u5f02\uff0c\u5efa\u8bae\u5728\u4e8c\u4ee3\u6d4b\u5e8f\u8fc7\u7a0b\u4e2d\u4ee5\u56fa\u5b9a\u7684\u65f6\u95f4\u95f4\u9694\u6216\u5728\u66f4\u6362\u8bd5\u5242\u6279\u6b21\u65f6\uff0c\u52a0\u5165\u6807\u51c6\u54c1\u6587\u5e93\u7684\u6d4b\u5e8f\u4e0e\u6570\u636e\u8d28\u91cf\u8bc4\u4f30\uff0c\u5bf9\u6d4b\u5e8f\u8bd5\u5242\u4e0e\u4eea\u5668\u7684\u7a33\u5b9a\u6027\u8fdb\u884c\u8bc4\u4f30\u3002<\/div>\n
\u4e8c\u4ee3\u6d4b\u5e8f\u7684\u4e0b\u673a\u539f\u59cb\u6570\u636e\uff08BCL\u6587\u4ef6\uff09\u5efa\u8bae\u4fdd\u5b580.5 ~ 1\u4e2a\u6708\u3002FASTQ\u6587\u4ef6\u683c\u5f0f\u7684\u6570\u636e\u4fdd\u5b58\u7684\u8003\u91cf\u5e94\u5305\u62ec\u539f\u59cb\u6570\u636e\u7684\u53ef\u6eaf\u6e90\u6027\u3001\u73b0\u6709\u6280\u672f\uff08\u5305\u62ec\u6d4b\u5e8f\u6280\u672f\u3001\u9057\u4f20\u53d8\u5f02\u4f4d\u70b9\u5904\u7406\u6280\u672f\uff09\u7684\u7248\u672c\u53ef\u6eaf\u6e90\u6027\u3001\u57fa\u4e8e\u76ee\u524d\u77e5\u8bc6\u6ce8\u91ca\u89e3\u8bfb\u7684\u53ef\u6eaf\u6e90\u6027\u53ca\u60a3\u8005\u5728\u4e00\u5b9a\u65f6\u9650\u5185\u5bf9\u6570\u636e\u7684\u7d22\u53d6\u6743\uff0c\u4fdd\u5b58\u7684\u65f6\u95f4\u548c\u65b9\u5f0f\u53ef\u89c6\u4e0d\u540c\u68c0\u6d4b\u673a\u6784\u7684\u60c5\u51b5\u800c\u5b9a\uff0c\u5efa\u8bae\u81f3\u5c11\u4fdd\u5b585\u5e74\u3002\u540c\u65f6\uff0c\u57fa\u4e8e\u6570\u636e\u5b89\u5168\u7684\u8003\u8651\uff0c\u5e94\u8003\u8651\u5b9e\u65bd\u5fc5\u8981\u7684\u9632\u706b\u5899\u3001\u52a0\u5bc6\u548c\u7ba1\u7406\u3002<\/div>\n
\u00a0<\/div>\n
2.4\u00a0\u9057\u4f20\u75c5NGS\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u68c0\u6d4b\u4e2d\u7684\u6837\u672c\u8ffd\u8e2a<\/div>\n
\u4e3a\u786e\u4fdd\u5728\u68c0\u6d4b\u8fc7\u7a0b\u4e2d\u6837\u672c\u65e0\u6df7\u6dc6\u6216\u6c61\u67d3\uff0c\u5efa\u8bae\u68c0\u6d4b\u673a\u6784\u8bbe\u7f6e\u6837\u672c\u8ffd\u8e2a\u6d41\u7a0b\u3002\u5728\u4e0a\u4f20\u6570\u636e\u524d\uff0c\u5bf9\u6570\u636e\u4e0e\u539f\u59cb\u6837\u672c\u505a\u5f3a\u5236\u6027\u4e00\u81f4\u6027\u5206\u6790\uff0c\u901a\u8fc7\u540e\u65b9\u53ef\u4e0a\u4f20\u6570\u636e\u7528\u4e8e\u540e\u7eed\u7684\u751f\u7269\u4fe1\u606f\u53ca\u9057\u4f20\u4fe1\u606f\u5206\u6790\u3002<\/div>\n
\u6837\u672c\u8ffd\u8e2a\u6d41\u7a0b\u5305\u62ec\u4e24\u4e2a\u65b9\u9762\uff1a<\/div>\n
1\uff09\u6027\u522b\u4e00\u81f4\u6027\u9274\u5b9a\uff1a\u5c06\u5ba2\u6237\u5728\u4e34\u5e8a\u4fe1\u606f\u4e2d\u63d0\u4f9b\u7684\u6027\u522b\u4fe1\u606f\u4e0e\u6570\u636e\u7684\u6027\u522b\u5206\u6790\u5f97\u51fa\u7684\u7ed3\u679c\u8fdb\u884c\u5bf9\u6bd4\u3002\u5982\u679c\u7ed3\u679c\u4e0d\u4e00\u81f4\uff0c\u5219\u5efa\u8bae\u8054\u7cfb\u9001\u68c0\u5355\u4f4d\u6216\u4e2a\u4eba\u6765\u786e\u5b9a\u6027\u522b\u4fe1\u606f\uff0c\u540c\u65f6\u68c0\u6d4b\u673a\u6784\u5e94\u79ef\u7d2f\u6027\u67d3\u8272\u4f53\u591a\u500d\u6027\u7ecf\u9a8c\u7528\u4e8e\u5904\u7406\u6837\u672c\u4e3a\u975e\u6b63\u5e38\u6027\u67d3\u8272\u4f53\u500d\u6027\u76f8\u5173\u7684\u60c5\u51b5\u3002<\/div>\n
2\uff09\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\uff08single nucleotide polymorphism\uff0cSNP\uff09\u4e00\u81f4\u6027\u9274\u5b9a\uff1a\u5efa\u8bae\u9009\u7528\u591a\u4e2aSNP\u4f4d\u70b9\u6216\u5176\u4ed6\u6807\u7b7e\u4f5c\u4e3a\u6837\u672c\u7684\u8eab\u4efd\u6807\u8bc6\u3002\u9996\u5148\u901a\u8fc7\u8bbe\u8ba1\u7684\u5f15\u7269\u505aDNA\u6837\u672c\u7684SNP\u4f4d\u70b9\u68c0\u6d4b\uff0c\u5f85\u4e8c\u4ee3\u6d4b\u5e8f\u68c0\u6d4b\u540e\u5bf9\u8be5\u6837\u672c\u6570\u636e\u4e2d\u4e0a\u8ff0\u4f4d\u70b9\u7684SNP\u60c5\u51b5\u8fdb\u884c\u8ffd\u8e2a\u6bd4\u5bf9\uff0c\u8bc1\u660eDNA\u6837\u672c\u4e0e\u5176\u4ea7\u751f\u7684\u6570\u636e\u4e2dSNP\u4f4d\u70b9\u7684\u4e00\u81f4\u6027\u3002<\/div>\n
\u00a0<\/div>\n
\u9488\u5bf9\u6837\u672c\u6570\u636e\u7684\u6c61\u67d3\u95ee\u9898\uff0c\u540c\u65f6\u5efa\u8bae\u5728\u751f\u7269\u4fe1\u606f\u5206\u6790\u9636\u6bb5\u5bf9\u6570\u636e\u7684\u4f4e\u9891\u7a81\u53d8\u9891\u7387\uff08low call variant ratio\uff09\u8fdb\u884c\u76d1\u63a7\u3002\u8be5\u6307\u6807\u82e5\u5f02\u5e38\u5347\u9ad8\uff0c\u4e5f\u80fd\u591f\u63d0\u793a\u6570\u636e\u5b58\u5728\u6c61\u67d3\u3002\u9488\u5bf9\u4e0a\u8ff0\u8ffd\u8e2a\u6d41\u7a0b\u4e2d\u5f02\u5e38\u7ed3\u679c\u7684\u62a5\u544a\uff0c\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u5e94\u5728\u7b2c\u4e00\u65f6\u95f4\u5bf9\u5931\u8bef\u8fdb\u884c\u539f\u56e0\u5206\u6790\uff0c\u5e76\u53ca\u65f6\u91c7\u53d6\u5e94\u5bf9\u63aa\u65bd\u6216\u5907\u9009\u65b9\u6848\u3002<\/div>\n
\u00a0<\/div>\n
2.5 \u4e34\u5e8a\u5b9e\u9a8c\u5ba4NGS\u68c0\u6d4b\u7684\u8d28\u91cf\u8bc4\u4ef7<\/div>\n
\u901a\u5e38\u60c5\u51b5\u4e0b\uff0c\u6bcf\u6b21\u68c0\u6d4b\u5e94\u81f3\u5c11\u6dfb\u52a0\u4e00\u4e2a\u9633\u6027\u8d28\u63a7\u3001\u4e00\u4e2a\u9634\u6027\u8d28\u63a7\u6216\u7a7a\u767d\u5bf9\u7167\u4e0e\u5e38\u89c4\u6837\u672c\u540c\u65f6\u68c0\u6d4b\uff0c\u5e76\u8bbe\u5b9a\u8d28\u63a7\u6807\u51c6\uff0c\u4fdd\u7559\u8d28\u63a7\u8bb0\u5f55\u3002<\/div>\n
\u540c\u65f6\uff0c\u5e94\u8be5\u6709\u8ba1\u5212\u5730\u91c7\u7528\u7559\u6837\u590d\u6d4b\u3001\u76f8\u540c\u6837\u672c\u76f8\u540c\u4eba\u5458\u4e0d\u540c\u65f6\u95f4\u91cd\u590d\u5b9e\u9a8c\u3001\u76f8\u540c\u6837\u672c\u4e0d\u540c\u4eba\u5458\u76f8\u540c\u65f6\u95f4\u91cd\u590d\u5b9e\u9a8c\u3001\u4e0d\u540c\u65b9\u6cd5\u76f8\u540c\u6837\u672c\u7684\u6bd4\u5bf9\u3001\u8bbe\u5907\u5b9a\u671f\u6838\u67e5\u7b49\u65b9\u5f0f\u5b9a\u671f\u5bf9\u68c0\u6d4b\u7cfb\u7edf\u7684\u7a33\u5b9a\u6027\u3001\u4eea\u5668\u8bbe\u5907\u3001\u4eba\u5458\u7b49\u73af\u8282\u8fdb\u884c\u5185\u90e8\u8d28\u63a7\u3002\u00a0<\/div>\n
\u00a0<\/div>\n
\u6b64\u5916\uff0c\u5f00\u5c55\u9057\u4f20\u75c5\u4e8c\u4ee3\u6d4b\u5e8f\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u5e94\u6bcf\u5e74\u6216\u6bcf\u4e24\u5e74\u53c2\u52a0\u7531\u536b\u5065\u59d4\u6216\u7f8e\u56fd\u75c5\u7406\u5b66\u5bb6\u534f\u4f1a\uff08College of American Pathologists\uff0cCAP\uff09\u7ec4\u7ec7\u7684\u57fa\u56e0\u68c0\u6d4b\u80fd\u529b\u8bc4\u4f30\u8003\u6838\u3002\u4f5c\u4e3a\u5ba4\u95f4\u8d28\u91cf\u8bc4\u4ef7\u7684\u53c2\u8003\uff0c\u5982\u7ed3\u679c\u4e0d\u5408\u683c\uff0c\u5e94\u5f53\u5206\u6790\u539f\u56e0\uff0c\u5e76\u91c7\u53d6\u76f8\u5e94\u7684\u9884\u9632\u6216\u7ea0\u6b63\u63aa\u65bd\u3002<\/div>\n
\u00a0<\/div>\n
3. \u603b\u7ed3<\/div>\n
\u672c\u5171\u8bc6\u8ba8\u8bba\u6db5\u76d6\u4e86\u5c06\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5e94\u7528\u4e8e\u9057\u4f20\u75c5\u57fa\u56e0\u68c0\u6d4b\u7684\u6574\u4e2a\u6d41\u7a0b\u3002\u76ee\u524d\u56fd\u5185\u5df2\u6709\u8bb8\u591a\u4e8c\u4ee3\u6d4b\u5e8f\u516c\u53f8\u8bd5\u6c34\u4e34\u5e8a\u9057\u4f20\u75c5\u7684\u68c0\u6d4b\uff0c\u800c\u5bf9\u4e8e\u6d89\u53ca\u4e34\u5e8a\u68c0\u6d4b\u7684\u5b9e\u9a8c\u5ba4\u64cd\u4f5c\u5c1a\u65e0\u7edf\u4e00\u7684\u6807\u51c6\u3002<\/div>\n
\u00a0<\/div>\n
\u5728\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u8fdb\u884c\u7684\u89c4\u8303\u5316\u4e0e\u6807\u51c6\u5316\u7684\u68c0\u6d4b\u4e0e\u8d28\u63a7\uff0c\u6709\u52a9\u4e8e\u4f7f\u9057\u4f20\u5b66\u4e13\u5bb6\u6216\u533b\u5e08\u5f97\u5230\u7cbe\u786e\u53ef\u9760\u3001\u51c6\u786e\u6709\u6548\u7684\u68c0\u6d4b\u6570\u636e\u8fdb\u884c\u5206\u6790\uff0c\u751f\u6210\u5177\u6709\u4e34\u5e8a\u6307\u5bfc\u610f\u4e49\u7684\u9057\u4f20\u68c0\u6d4b\u62a5\u544a\uff0c\u8fdb\u884c\u51c6\u786e\u7684\u8bca\u65ad\u5e76\u5b9e\u65bd\u6b63\u786e\u7684\u6cbb\u7597\u5e72\u9884\u548c\u4ea7\u524d\u8bca\u65ad\u7b49\u3002<\/div>\n
\u00a0<\/div>\n
\u5c3d\u7ba1\u56fd\u9645\u4e0a\u53d1\u5e03\u4e86\u4e00\u4e9b\u4e8c\u4ee3\u6d4b\u5e8f\u7684\u6307\u5357\u548c\u6307\u5bfc\u610f\u89c1\uff0c\u6211\u56fd\u4e5f\u51fa\u53f0\u4e86\u76f8\u5173\u7684\u8bca\u7597\u89c4\u8303\u3001\u5171\u8bc6\uff0c\u5f88\u591a\u5b9e\u9a8c\u5ba4\u4e5f\u5728\u9075\u4eceISO 15189\u8d28\u91cf\u7ba1\u7406\u4f53\u7cfb\u6807\u51c6\u5bf9\u5b9e\u9a8c\u5ba4\u8fdb\u884c\u8d28\u91cf\u7ba1\u7406\uff0c\u4f46\u8fd9\u4e9b\u6307\u5357\u548c\u610f\u89c1\u5f80\u5f80\u5e76\u672a\u6d89\u53ca\u6280\u672f\u7684\u5177\u4f53\u64cd\u4f5c\u4ee5\u53ca\u5982\u4f55\u505a\u597d\u8d28\u91cf\u63a7\u5236\u7684\u7ec6\u8282\u5185\u5bb9\u3002\u5728\u6211\u56fd\uff0c\u4e8c\u4ee3\u6d4b\u5e8f\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u7684\u8d28\u91cf\u7ba1\u7406\u4ecd\u6709\u5f88\u591a\u7ec6\u8282\u6709\u5f85\u4e8e\u5b8c\u5584\u3002<\/div>\n
\u00a0<\/div>\n
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