{"id":73162,"date":"2018-12-03T01:00:00","date_gmt":"2018-12-07T05:13:18","guid":{"rendered":"http:\/\/www.05921.net\/index.php\/2018\/12\/07\/20e44a38db\/"},"modified":"2018-12-07T13:13:21","modified_gmt":"2018-12-07T05:13:21","slug":"20e44a38db","status":"publish","type":"post","link":"https:\/\/www.05921.net\/index.php\/73162\/","title":{"rendered":"\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5728\u8840\u6db2\u80bf\u7624\u4e2d\u7684\u5e94\u7528\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6 (2018\u5e74\u7248)"},"content":{"rendered":"
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\u70b9\u51fb\u4e0a\u65b9\u7684  \u25b2 \u6dfb\u52a0\u5173\u6ce8<\/span><\/p>\n


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\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5728\u8840\u6db2\u80bf\u7624\u4e2d\u7684\u5e94\u7528<\/strong><\/p>\n

\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u8840\u6db2\u80bf\u7624\u4e13\u4e1a\u59d4\u5458\u4f1a, \u4e2d\u534e\u533b\u5b66\u4f1a\u8840\u6db2\u5b66\u5206\u4f1a<\/p>\n

\u4e2d\u534e\u533b\u5b66\u4f1a\u75c5\u7406\u5b66\u5206\u4f1a.<\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u4e2d\u534e\u8840\u6db2\u5b66\u6742\u5fd7,2018,39( 11 ): 881-886.<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u8840\u6db2\u80bf\u7624\u4e2d\u5e38\u89c1\u7684\u5206\u5b50\u751f\u7269\u5b66\u5f02\u5e38\u4e3b\u8981\u5305\u62ec\u57fa\u56e0\u7a81\u53d8\u3001\u878d\u5408\u57fa\u56e0\u53ca\u57fa\u56e0\u5f02\u5e38\u8868\u8fbe\u3002\u76ee\u524dNGS\u5728\u57fa\u56e0\u7a81\u53d8\u7684\u68c0\u6d4b\u65b9\u9762\u5e94\u7528\u6700\u4e3a\u5e7f\u6cdb\u548c\u6210\u719f\uff0c\u672c\u5171\u8bc6\u4ec5\u6d89\u53ca\u57fa\u56e0\u7a81\u53d8\u7684\u68c0\u6d4b\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u4e00\u3001NGS\u5728\u8840\u6db2\u80bf\u7624\u8bca\u7597\u4e2d\u7684<\/strong><\/p>\n

\u5e94\u7528\u4ef7\u503c<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u8bca\u65ad\u5206\u578b\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u9884\u540e\u5224\u65ad\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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3<\/strong><\/p>\n<\/section>\n

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4<\/strong><\/p>\n<\/section>\n

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\u5fae\u5c0f\u6b8b\u7559\u75c5(<\/strong>MRD<\/strong>)\u76d1\u6d4b\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u57fa\u56e0\u7a81\u53d8\u662fMRD\u76d1\u6d4b\u7684\u5206\u5b50\u6807\u5fd7\u7269\u4e4b\u4e00\u3002\u867d\u7136\u5b9e\u65f6\u5b9a\u91cfPCR\u65b9\u6cd5\u548c\u6d41\u5f0f\u7ec6\u80de\u5b66\u662f\u76ee\u524d\u4e3b\u6d41\u7684MRD\u76d1\u6d4b\u65b9\u6cd5\uff0c\u4f46\u662f\u7531\u4e8eNGS\u7075\u654f\u5ea6\u968f\u6d4b\u5e8f\u6df1\u5ea6\u52a0\u6df1\u53ef\u8fdb\u4e00\u6b65\u63d0\u9ad8\uff0c\u5728MRD\u76d1\u6d4b\u65b9\u9762\u5177\u6709\u66f4\u5927\u7684\u4f18\u52bf\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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5<\/strong><\/p>\n<\/section>\n

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\u4e8c\u3001\u57fa\u672c\u6d41\u7a0b<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u68c0\u6d4b\u7684\u57fa\u56e0\u79cd\u7c7b\u5217\u8868\u8bbe\u8ba1<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u88ab\u68c0\u6d4b\u7684\u57fa\u56e0\u6240\u8986\u76d6\u533a\u57df\u53ef\u53c2\u8003\u4e34\u5e8a\u8bca\u7597\u6307\u5357\u3001\u6743\u5a01\u6570\u636e\u5e93\u3001\u6587\u732e\u53ca\u5b9e\u9a8c\u5ba4\u81ea\u5efa\u6570\u636e\u5e93\u7b49\u3002\u9996\u5148\u5e94\u7eb3\u5165\u57fa\u56e0\u70ed\u70b9\u7a81\u53d8\u533a\u57df\u6216\u91cd\u8981\u7ed3\u6784\u57df\u7684\u7f16\u7801\u533a\u57df\uff0c\u4f8b\u5982NPM1\u57fa\u56e0c.860_863\u4e3a\u70ed\u70b9\u7a81\u53d8\u533a\u57df\uff0cNOTCH1\u57fa\u56e0\u7a81\u53d8\u6700\u591a\u89c1\u4e8eHD\u7ed3\u6784\u57df\u53ca\u0394PEST\u7ed3\u6784\u57df\uff1b\u65e0\u660e\u786e\u70ed\u70b9\u7a81\u53d8\u533a\u57df\u6216\u7a81\u53d8\u4f4d\u70b9\u5206\u5e03\u6bd4\u8f83\u5206\u6563\u7684\u57fa\u56e0\uff0c\u5e94\u68c0\u6d4b\u5168\u90e8\u5916\u663e\u5b50\uff0c\u4f8b\u5982TP53\u3001RUNX1\u7b49\uff1b\u526a\u63a5\u4f4d\u70b9\u7a81\u53d8\u6709\u53ef\u80fd\u5bfc\u81f4\u5916\u663e\u5b50\u8df3\u8dc3\uff0c\u5f71\u54cd\u86cb\u767d\u529f\u80fd\uff0c\u5efa\u8bae\u6839\u636e\u6570\u636e\u5e93\u8bb0\u5f55\u548c\u6587\u732e\u62a5\u9053\u5c06\u526a\u63a5\u4f4d\u70b9\u00b15 bp\u7684\u533a\u57df\u7eb3\u5165\u68c0\u6d4b\u8303\u56f4\uff1b\u5bf9\u4e8e\u5b58\u5728\u975e\u7ffb\u8bd1\u533a\uff08UTR\uff09\u7a81\u53d8\u7684\u57fa\u56e0\uff0c\u4f8b\u5982BCL6\uff0c\u5219\u5e94\u7eb3\u5165\u76f8\u5e94\u533a\u57df\u68c0\u6d4b\u3002\u9700\u8981\u6ce8\u610f\u7684\u662f\uff0c\u5bf9\u4e8e\u4e0d\u80fd\u8986\u76d6\u7684\u70ed\u70b9\u7a81\u53d8\u7c7b\u578b\u6216\u91cd\u8981\u533a\u57df\u53ef\u901a\u8fc7\u5176\u4ed6\u68c0\u6d4b\u65b9\u6cd5\u8fdb\u884c\u8865\u5145\uff0c\u5e76\u5728\u68c0\u6d4b\u62a5\u544a\u4e2d\u660e\u786e\u8bf4\u660e\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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\u5b9e\u9a8c\u6d41\u7a0b<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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1<\/strong><\/p>\n<\/section>\n

\n

\u6837\u672c\u91c7\u96c6\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n

\u7591\u8bca\u4e3a\u8840\u6db2\u80bf\u7624\u7684\u60a3\u8005\uff0c\u521d\u8bca\u65f6\u5e94\u7559\u5b58\u65b0\u9c9c\u9aa8\u9ad3\u3001\u5916\u5468\u8840\u6216\u7ec4\u7ec7\u6837\u672c\uff0c\u4ee5\u5907\u8fdb\u884cNGS\u68c0\u6d4b\uff0c\u672a\u7559\u5b58\u8005\u53ef\u4f7f\u7528\u521d\u8bca\u65f6\u7684\u9aa8\u9ad3\u6d82\u7247\u8fdb\u884c\u68c0\u6d4b\u3002\u9aa8\u9ad3\u91c7\u96c6\u91cf\u4ee51~3 ml\u4e3a\u5b9c\uff0c\u5916\u5468\u8840\u91c7\u96c6\u91cf3~5 ml\u4e3a\u5b9c\uff0c\u82e5\u767d\u7ec6\u80de\u8ba1\u6570\u504f\u9ad8\u6216\u504f\u4f4e\uff0c\u5e94\u9002\u5f53\u8c03\u6574\u91c7\u96c6\u91cf\uff0c\u4f7f\u5355\u4e2a\u6838\u7ec6\u80de\u603b\u6570\u8fbe\u52301\u00d710^7\u4ee5\u4e0a\u3002\u6297\u51dd\u5242\u9996\u9009EDTA\u6297\u51dd\u5242\u6216\u67b8\u6a7c\u9178\u94a0\u6297\u51dd\u5242\uff0c\u7981\u6b62\u4f7f\u7528\u809d\u7d20\u6297\u51dd\uff0c\u63a8\u835024 h\u51854 \u2103\u51b7\u85cf\u8fd0\u9001\u3002\u798f\u5c14\u9a6c\u6797\u56fa\u5b9a\u540e\u7684\u7ec4\u7ec7\u6807\u672c\u9700\u9009\u62e9\u80bf\u7624\u6210\u5206\uff0c\u5207\u7247\u539a\u5ea68~10 \u00b5m\uff0c5~8\u7247\u4e3a\u5b9c\uff0c\u5e38\u6e29\u8fd0\u8f93\u3002\u5df2\u67d3\u8272\u6807\u672c\u4e0d\u63a8\u8350\u8fdb\u884cNGS\u68c0\u6d4b\u3002\u6761\u4ef6\u5141\u8bb8\u7684\u75c5\u4f8b\uff0c\u53ef\u4ece\u540c\u4e00\u60a3\u8005\u91c7\u53d6\u6b63\u5e38\u7ec4\u7ec7\u4f5c\u4e3a\u80da\u7cfb\u7a81\u53d8\u5bf9\u7167\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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2<\/strong><\/p>\n<\/section>\n

\n

DNA\u63d0\u53d6\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
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\n

DNA\u8d28\u91cf\u662fNGS\u68c0\u6d4b\u6210\u529f\u7684\u5173\u952e\u56e0\u7d20\uff0c\u540c\u4e00\u60a3\u8005\u7684\u4e0d\u540c\u75c5\u7076\u7ec4\u7ec7\u3001\u4e0d\u540c\u7ec4\u7ec7\u5207\u7247\u5e94\u5206\u522b\u5355\u72ec\u8fdb\u884cDNA\u63d0\u53d6\uff0c\u5e76\u5bf9DNA\u8d28\u91cf\u8fdb\u884c\u8bc4\u4f30\uff0c\u5305\u62ec\u6d53\u5ea6\u3001\u7eaf\u5ea6\u548c\u5b8c\u6574\u6027\u5206\u6790\u3002\u7531\u4e8eFFPE\u7ec4\u7ec7\u6807\u672c\u4ee5\u53ca\u9aa8\u9ad3\u6d82\u7247\u6240\u63d0\u53d6\u7684DNA\u6613\u7247\u6bb5\u5316\uff0c\u4e14\u56e0\u4fdd\u5b58\u73af\u5883\u53ca\u4fdd\u5b58\u65f6\u95f4\u4e0d\u540c\uff0c\u5bfc\u81f4DNA\u7247\u6bb5\u5316\u7684\u7a0b\u5ea6\u53c2\u5dee\u4e0d\u9f50\uff0c\u56e0\u6b64\u5404\u5b9e\u9a8c\u5ba4\u5e94\u5177\u6709\u76f8\u5e94\u7684\u65b9\u6cd5\u68c0\u6d4bDNA\u7684\u5b8c\u6574\u6027\u6216\u964d\u89e3\u7a0b\u5ea6\uff0c\u5e76\u8bbe\u7acb\u660e\u786e\u7684\u5408\u683c\u6837\u672c\u6807\u51c6\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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3<\/strong><\/p>\n<\/section>\n

\n

\u6587\u5e93\u5236\u5907\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n

\u6587\u5e93\u5236\u5907\u7528\u4e8e\u76ee\u6807\u533a\u57df\u7684\u5bcc\u96c6\uff0c\u4e3b\u8981\u6709\u6742\u4ea4\u6355\u83b7\u6cd5\u548c\u6269\u589e\u5b50\u5efa\u5e93\u6cd5\uff0c\u65e0\u8bba\u91c7\u7528\u4f55\u79cd\u65b9\u6cd5\u5236\u5907\u6587\u5e93\uff0c\u5747\u9700\u4f7f\u7528\u5df2\u9a8c\u8bc1\u8fc7\u7684\u5efa\u5e93\u8bd5\u5242\u3002\u591a\u6807\u672c\u540c\u65f6\u6d4b\u5e8f\u5e94\u6709\u76f8\u5e94\u7684\u5206\u5b50\u6807\u7b7e\u7528\u4e8e\u533a\u5206\u4e0d\u540c\u7684\u6d4b\u5e8f\u6807\u672c\uff0c\u660e\u786e\u4e0d\u540c\u7684\u68c0\u6d4b\u6807\u672c\u548c\u5206\u5b50\u6807\u7b7e\u7684\u4e00\u4e00\u5bf9\u5e94\u5173\u7cfb\uff1b\u5fc5\u8981\u65f6\uff0c\u53ef\u5bf9\u52a0\u6807\u7b7e\u7684\u65b9\u6cd5\u53ca\u8bd5\u5242\u8fdb\u884c\u8bf4\u660e\u3002\u6587\u5e93\u6d53\u5ea6\u8fc7\u9ad8\u4f1a\u5bfc\u81f4\u591a\u514b\u9686\u6570\u636e\u7684\u4ea7\u751f\uff0c\u964d\u4f4e\u6709\u6548\u6d4b\u5e8f\u6570\u636e\u91cf\uff1b\u8fc7\u4f4e\u4f1a\u5bfc\u81f4\u6574\u4f53\u6d4b\u5e8f\u6570\u636e\u7684\u51cf\u5c11\uff0c\u56e0\u6b64\u5728\u6d4b\u5e8f\u4e4b\u524d\u63a8\u8350\u4f7f\u7528\u5b9e\u65f6\u5b9a\u91cfPCR\u6216\u5176\u4ed6\u65b9\u6cd5\u5bf9\u6587\u5e93\u8fdb\u884c\u5b9a\u91cf\uff0c\u5c06\u6587\u5e93\u6d53\u5ea6\u8c03\u6574\u81f3\u5408\u9002\u7684\u6c34\u5e73\u3002\u6bcf\u4e2a\u68c0\u6d4b\u9879\u76ee\u5e94\u8bbe\u5b9a\u5176\u6587\u5e93\u8d28\u91cf\u7684\u8981\u6c42\uff0c\u5e76\u8bbe\u7acb\u660e\u786e\u7684\u5408\u683c\u6587\u5e93\u6807\u51c6\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
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4<\/strong><\/p>\n<\/section>\n

\n

\u4e0a\u673a\u68c0\u6d4b\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n

\u76ee\u524d\u6d4b\u5e8f\u4e3b\u8981\u6709\u7535\u4f4d\u68c0\u6d4b\u548c\u5149\u5b66\u68c0\u6d4b\u4e24\u79cd\u57fa\u672c\u539f\u7406\uff0c\u68c0\u6d4bDNA\u5408\u6210\u8fc7\u7a0b\u4e2d\u91ca\u653e\u7684\u6c22\u79bb\u5b50\u6216\u8367\u5149\u4fe1\u53f7\u3002\u4e3a\u4fdd\u8bc1\u6d4b\u5e8f\u8d28\u91cf\u3001\u68c0\u6d4b\u533a\u57df\u8986\u76d6\u6df1\u5ea6\u53ca\u62a5\u544a\u65f6\u6548\u6027\uff0c\u9700\u8981\u6839\u636e\u6837\u672c\u6570\u91cf\u548c\u8d28\u91cf\u9009\u53d6\u9002\u5f53\u7684\u6d4b\u5e8f\u5e73\u53f0\u548c\u82af\u7247\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u6d41\u7a0b<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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1<\/strong><\/p>\n<\/section>\n

\n

\u8d28\u63a7\u5206\u6790\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
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\u7531\u6d4b\u5e8f\u5e73\u53f0\u4ea7\u751f\u7684\u539f\u59cb\u6570\u636e\u901a\u5e38\u4f1a\u5b58\u5728\u78b1\u57fa\u53ec\u56de\u9519\u8bef\u3001\u63d2\u5165\u5220\u9664\u9519\u8bef\u3001\u4f4e\u8d28\u91cf\u8bfb\u6bb5(reads<\/span>)\u53ca\u63a5\u5934\u6c61\u67d3\u7b49\u95ee\u9898\uff0c\u4f1a\u5728\u4e00\u5b9a\u7a0b\u5ea6\u4e0a\u5f71\u54cd\u4e0b\u6e38\u7684\u5206\u6790\u8fc7\u7a0b\u3002\u56e0\u6b64\uff0c\u5728\u5bf9\u6d4b\u5e8f\u7ed3\u679c\u8fdb\u884c\u5177\u4f53\u7684\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u4e4b\u524d\uff0c\u8981\u5148\u5bf9\u4e0b\u673a\u6570\u636e\u8fdb\u884c\u8d28\u91cf\u8bc4\u4f30\uff0c\u5236\u5b9a\u6709\u6548\u7684\u8d28\u91cf\u63a7\u5236\u6807\u51c6\uff0c\u5305\u62ec\u78b1\u57fa\u7684\u8d28\u91cfQ20\u3001\u76ee\u6807\u533a\u57df\u5e73\u5747\u6d4b\u5e8f\u6df1\u5ea6\u3001\u5747\u4e00\u6027\u7b49\u8bc4\u4ef7\u53c2\u6570\u3002\u8840\u6db2\u80bf\u7624\u7684\u57fa\u56e0\u7a81\u53d8\u68c0\u6d4b\uff0c\u6d4b\u5e8f\u6df1\u5ea6\u5e94\u2265500\u00d7\uff0c\u5e73\u5747\u6d4b\u5e8f\u8986\u76d6\u5ea6\u3001\u5747\u4e00\u6027\u4ee5\u53ca\u5728\u9776\u7387\u5747\u226590%\u3002<\/span><\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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2<\/strong><\/p>\n<\/section>\n

\n

\u6570\u636e\u8fc7\u6ee4\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n

\u4f4e\u8d28\u91cf\u8bfb\u6bb5\u4f1a\u5f71\u54cd\u4e0b\u6e38\u7684\u5e8f\u5217\u5904\u7406\u548c\u5206\u6790\uff0c\u56e0\u6b64\u9700\u8981\u5bf9\u6d4b\u5e8f\u6570\u636e\u8fdb\u884c\u8fc7\u6ee4\u5904\u7406\u3002\u6570\u636e\u8fc7\u6ee4\u6240\u9488\u5bf9\u7684\u8bfb\u6bb5\u4e3b\u8981\u6709\u56db\u79cd\uff1a\u6d4b\u5e8f\u8d28\u91cf\u4f4e\u7684\u8bfb\u6bb5(low quality reads<\/span>)\uff0c\u91cd\u590d\u8bfb\u6bb5(<\/span>duplicate reads<\/span>)\uff0c\u542b\u6709\u6838\u82f7\u9178\u7684\u63d2\u5165\u3001\u5220\u9664\u548c\u66ff\u6362\u7b49\u9519\u8bef\u7684\u8bfb\u6bb5(<\/span>insertion \/ deletion \/ mismatch<\/span>)\u548c\u5e26\u6709\u4eba\u5de5\u6c61\u67d3\u7684\u8bfb\u6bb5(<\/span>adaptor<\/span>)<\/span>\u7b49<\/span>\u3002\u5e38\u7528\u7684\u6570\u636e\u8fc7\u6ee4\u8f6f\u4ef6\u6709Trimmomatic\u3001Fastx_toolkit\u3001NGS QC Toolkit\u7b49\u3002<\/span><\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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3<\/strong><\/p>\n<\/section>\n

\n

\u5e8f\u5217\u6bd4\u5bf9\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n

\u5f53\u8bfb\u6bb5\u7ecf\u8fc7\u8d28\u63a7\u4e0e\u8fc7\u6ee4\u7b49\u6b65\u9aa4\u8fbe\u5230\u4e00\u5b9a\u7684\u8d28\u91cf\u6807\u51c6\u4e4b\u540e\uff0c\u9700\u8981\u5c06\u5176\u6bd4\u5bf9\u5230\u53c2\u8003\u57fa\u56e0\u7ec4\u4e0a\u3002\u76ee\u524d\u666e\u904d\u53c2\u8003\u7684\u4eba\u7c7b\u57fa\u56e0\u7ec4\u53c2\u8003\u5e8f\u5217\u4e3aHuman hg19\u3002\u4e0d\u540c\u7684\u6bd4\u5bf9\u65b9\u6cd5\u6839\u636e\u4e0d\u540c\u7684\u6bd4\u5bf9\u7b56\u7565\u8bbe\u8ba1\u4e86\u4e0d\u540c\u7684\u7b97\u6cd5\uff0c\u5e38\u7528\u7684\u6bd4\u5bf9\u7a0b\u5e8f\u8f6f\u4ef6\u6709MAQ\u3001BWA\u3001Bowtie\/Bowtie2\u3001SOAP\/SOAP2\u3001mrFAST\u548cStampy\u7b49\uff0c\u5b9e\u9a8c\u5ba4\u5e94\u5f53\u9009\u53d6\u5408\u9002\u7684\u6bd4\u5bf9\u8f6f\u4ef6\uff0c\u5efa\u7acb\u5b8c\u5584\u7684\u5b9e\u9a8c\u5ba4\u6bd4\u5bf9\u6d41\u7a0b\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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4<\/strong><\/p>\n<\/section>\n

\n

\u7a81\u53d8\u4f4d\u70b9\u6ce8\u91ca\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
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\u7a81\u53d8\u4f4d\u70b9\u8bc6\u522b\u5e38\u501f\u52a9\u4e8eSamtools\u3001GATK\u7b49\u8bc6\u522b\u5de5\u5177\u3002\u5bf9\u7a81\u53d8\u4f4d\u70b9\u7684\u6ce8\u91ca\u5185\u5bb9\u5305\u62ec\u529f\u80fd\u4fe1\u606f\u3001\u9891\u7387\u4fe1\u606f\u3001\u8f6f\u4ef6\u9884\u6d4b\u7ed3\u679c\u4fe1\u606f\u4ee5\u53ca\u75be\u75c5\u6570\u636e\u5e93\u4fe1\u606f\uff0c\u5e38\u7528\u7684\u5305\u62ecEnsembl\u3001RefSeq\u3001GENCODE\u3001dbSNP\u30011000genomes\u3001ESP\u3001ExAC\u3001COSMIC\u3001HGMD\u3001Clinvar\u3001polyphen\u548cSIFT\u7b49\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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5<\/strong><\/p>\n<\/section>\n

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\u7a81\u53d8\u4f4d\u70b9\u7b5b\u9009\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u7b5b\u9009\u4e0e\u9274\u522b\u75be\u75c5\u76f8\u5173\u7a81\u53d8\u4f4d\u70b9\u9700\u8981\u7ecf\u8fc7\u4e25\u683c\u7684\u7b5b\u9009\u6d41\u7a0b\uff0c\u81f3\u5c11\u9700\u8981\u6392\u9664\u4f4e\u8d28\u91cf\u53d8\u5f02\u3001\u672a\u6709\u660e\u786e\u610f\u4e49\u7684\u975e\u7f16\u7801\u533a\u53d8\u5f02\u3001\u540c\u4e49\u5355\u6838\u82f7\u9178\u53d8\u5f02\uff08SNV\uff09\u53ca\u5df2\u77e5\u5065\u5eb7\u4eba\u7fa4\u4e2d\u7684\u57fa\u56e0\u591a\u6001\u6027\u4f4d\u70b9\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u62a5\u544a\u5185\u5bb9<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n

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1<\/strong><\/p>\n<\/section>\n

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\u57fa\u56e0\u4fe1\u606f\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u62a5\u544a\u4e2d\u9664\u60a3\u8005\u4fe1\u606f\u3001\u6807\u672c\u4fe1\u606f\u3001\u9001\u68c0\u65e5\u671f\u3001\u62a5\u544a\u7f72\u540d\u53ca\u65e5\u671f\u7b49\u4e00\u822c\u8d44\u6599\u5916\uff0c\u8fd8\u5e94\u5305\u62ec\uff1a\u68c0\u6d4b\u57fa\u56e0\u5217\u8868\u3001\u68c0\u6d4b\u533a\u57df\u53ca\u7a81\u53d8\u7c7b\u578b\uff1b\u4f7f\u7528\u7684\u68c0\u6d4b\u5e73\u53f0\u3001\u76ee\u6807\u533a\u57df\u7684\u5bcc\u96c6\u65b9\u6cd5\u3001\u5e73\u5747\u6d4b\u5e8f\u6df1\u5ea6\u3001\u6570\u636e\u5206\u6790\u8f6f\u4ef6\u540d\u79f0\u53ca\u7248\u672c\u53f7\uff1b\u5bf9\u76f8\u5173\u4e13\u4e1a\u672f\u8bed\u8fdb\u884c\u89e3\u91ca\u8bf4\u660e\uff1b\u672c\u5b9e\u9a8c\u5ba4\u62a5\u544a\u7a81\u53d8\u4f4d\u70b9\u7684\u89c4\u5219\u3001\u68c0\u6d4b\u65b9\u6cd5\u7684\u5c40\u9650\u6027\u3001\u68c0\u6d4b\u7075\u654f\u5ea6\u548c\u51c6\u786e\u5ea6\u7b49\uff1b\u6ce8\u660e\u662f\u5426\u901a\u8fc7\u5176\u4ed6\u65b9\u6cd5\u8865\u5145\u4e86NGS\u672a\u8986\u76d6\u6216\u8986\u76d6\u4e0d\u4f73\u7684\u68c0\u6d4b\u533a\u57df\u7b49\u3002
<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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2<\/strong><\/p>\n<\/section>\n

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\u7a81\u53d8\u4f4d\u70b9\u7684\u63cf\u8ff0\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u7a81\u53d8\u4f4d\u70b9\u4fe1\u606f\u5e94\u8be5\u5305\u62ec\u57fa\u56e0\u540d\u79f0\u3001\u7a81\u53d8\u7684\u7269\u7406\u5750\u6807\u3001cDNA\u7684\u8f6c\u5f55\u672c\u53f7\u3001\u5916\u663e\u5b50\u4f4d\u7f6e\u3001\u7b26\u5408\u4eba\u7c7b\u57fa\u56e0\u7ec4\u53d8\u5f02\u534f\u4f1a(HGVS<\/span>)\u4e66\u5199\u89c4\u8303\u7684\u7a81\u53d8\u7c7b\u578b\u3001\u6c28\u57fa\u9178\u7a81\u53d8\u7c7b\u578b\u3001\u53d8\u5f02\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\u4ee5\u53ca\u8be5\u7a81\u53d8\u4f4d\u70b9\u7684\u6d4b\u5e8f\u6df1\u5ea6\u7b49\u3002\u53c2\u8003\u5e8f\u5217\u63a8\u8350\u4f7f\u7528\u7f8e\u56fd\u56fd\u7acb\u751f\u7269\u6280\u672f\u4fe1\u606f\u4e2d\u5fc3(<\/span>National Center of Biotechnology Information<\/span>)\u6536\u5f55\u7684\u53c2\u8003\u5e8f\u5217\u3002\u5f53\u4f7f\u7528\u5404\u57fa\u56e0\u7f16\u7801DNA\u53c2\u8003\u5e8f\u5217\u63cf\u8ff0\u7a81\u53d8\u65f6\uff0c\u63a8\u8350\u6700\u5e38\u4f7f\u7528\u7684\u7ecf\u5178\u8f6c\u5f55\u672c(<\/span>canonical sequence<\/span>)\u3002<\/span><\/p>\n<\/section>\n<\/section>\n<\/section>\n

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3<\/strong><\/p>\n<\/section>\n

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\u7a81\u53d8\u4f4d\u70b9\u5206\u7ea7\u62a5\u544a\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u4e0d\u63a8\u8350\u5c06\u826f\u6027\u6216\u53ef\u80fd\u826f\u6027\u7a81\u53d8\u5728\u62a5\u544a\u4e2d\u62a5\u9053\u3002\u5efa\u8bae\u7a81\u53d8\u4f4d\u70b9\u6839\u636e\u4e34\u5e8a\u610f\u4e49\u7684\u660e\u786e\u6027\u8fdb\u884c\u5206\u7ea7\u62a5\u544a\uff1a<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u2460 \u4e00\u7ea7\u53d8\u5f02\uff1a\u5177\u6709\u660e\u786e\u4e34\u5e8a\u610f\u4e49\u7684\u7a81\u53d8\uff0c\u5305\u62ec\uff1a\u56fd\u5bb6\u98df\u54c1\u836f\u54c1\u76d1\u7763\u7ba1\u7406\u603b\u5c40(CFDA<\/span>)\u3001\u7f8e\u56fd\u98df\u54c1\u836f\u54c1\u7ba1\u7406\u5c40(<\/span>FDA<\/span>)\u7b49\u673a\u6784\u6279\u51c6\u7684\u7528\u836f\u6cbb\u7597\u9776\u70b9\uff1b\u8840\u6db2\u80bf\u7624\u8bca\u7597\u6307\u5357\u6216\u4e13\u5bb6\u5171\u8bc6\u4e2d\u6709\u660e\u786e\u8bca\u65ad\u3001\u6cbb\u7597\u3001\u9884\u540e\u610f\u4e49\u7684\u7a81\u53d8\uff1b\u5c1a\u672a\u8fdb\u5165\u8bca\u7597\u6307\u5357\u6216\u4e13\u5bb6\u5171\u8bc6\uff0c\u4f46\u6709\u6743\u5a01\u6587\u732e\u6216\u5927\u89c4\u6a21\u62a5\u9053\u5728\u8840\u6db2\u80bf\u7624\u4e2d\u5177\u6709\u8bca\u7597\u610f\u4e49\u7684\u7a81\u53d8\u3002<\/span><\/p>\n

\u2461 \u4e8c\u7ea7\u53d8\u5f02\uff1a\u5177\u6709\u6f5c\u5728\u4e34\u5e8a\u610f\u4e49\u7684\u7a81\u53d8\uff0c\u5305\u62ec\uff1a\u57fa\u4e8e\u591a\u4e2a\u5c0f\u89c4\u6a21\u7814\u7a76\u62a5\u9053\u5728\u8840\u6db2\u80bf\u7624\u4e2d\u5177\u6709\u8bca\u65ad\u3001\u6cbb\u7597\u6216\u9884\u540e\u610f\u4e49\uff0c\u4f46\u5c1a\u672a\u8fbe\u6210\u5171\u8bc6\u7684\u7a81\u53d8\uff1b\u65b0\u53d1\u73b0\u7684\u75be\u75c5\u76f8\u5173\u57fa\u56e0\u91cd\u8981\u7ed3\u6784\u57df\u7684\u4f53\u7ec6\u80de\u7a81\u53d8\u3002<\/p>\n

\u2462 \u4e09\u7ea7\u53d8\u5f02\uff1a\u4e34\u5e8a\u610f\u4e49\u672a\u660e\u7684\u7a81\u53d8\uff0c\u5bf9\u4e8e\u5c1a\u6709\u4e89\u8bae\u7684\u7a81\u53d8\u4f4d\u70b9\uff0c\u5b9e\u9a8c\u5ba4\u5fc5\u987b\u5236\u5b9a\u76f8\u5173\u89c4\u5219\uff0c\u53ef\u4ee5\u53d1\u73b0\u7a81\u53d8\u5373\u62a5\u544a\uff0c\u5e76\u9644\u4e0a\u8bf4\u660e\u548c\u610f\u4e49\uff1b\u4e5f\u53ef\u4ee5\u4e0d\u62a5\u544a\u6216\u53ea\u62a5\u544a\u5c0f\u90e8\u5206\u7a81\u53d8\u7ed3\u679c\uff0c\u5e76\u9644\u4e0a\u8bf4\u660e\u3001\u53c2\u8003\u6587\u732e\u53ca\u6570\u636e\u5e93\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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4<\/strong><\/p>\n<\/section>\n

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\u62a5\u544a\u89e3\u8bfb\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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\u7a81\u53d8\u4f4d\u70b9\u7684\u4e34\u5e8a\u610f\u4e49\u89e3\u8bfb\u8981\u5e73\u5b9e\u5ba2\u89c2\u3001\u6e05\u6670\u6613\u61c2\u3002\u63a8\u8350\u5199\u660e\u7a81\u53d8\u4f4d\u70b9\u7684\u4eba\u7fa4\u7a81\u53d8\u9891\u7387\u3001\u86cb\u767d\u529f\u80fd\u5371\u5bb3\u6027\u9884\u6d4b\u548c\u75be\u75c5\u6570\u636e\u5e93\u7684\u8bb0\u5f55\uff0c\u6839\u636e\u75be\u75c5\u8bca\u7597\u6307\u5357\u3001\u4e13\u5bb6\u5171\u8bc6\u548c\u65e2\u5f80\u7814\u7a76\u8bf4\u660e\u7a81\u53d8\u4f4d\u70b9\u5728\u4e34\u5e8a\u8bca\u65ad\u3001\u6cbb\u7597\u548c\u9884\u540e\u8bc4\u4f30\u4e2d\u7684\u610f\u4e49\uff0c\u6ce8\u660e\u5176\u76f8\u5173\u836f\u7269\u53ca\u6b63\u5728\u5f00\u5c55\u7684\u72b6\u6001\u4fe1\u606f\uff0c\u5e76\u9644\u4e0a\u6570\u636e\u5e93\u548c\u53c2\u8003\u6587\u732e\u6765\u6e90\u3002\u5bf9\u4e8e\u80da\u7cfb\u7a81\u53d8\uff0c\u9664\u4e86\u75be\u75c5\u8bca\u7597\u6307\u5357\u53ca\u91cd\u8981\u53c2\u8003\u6587\u732e\u5916\uff0c\u63a8\u8350\u53c2\u8003OMIM\u3001HGMD\u548cACMG\u7b49\u6570\u636e\u5e93\u6216\u5b66\u672f\u673a\u6784\u4e2d\u9057\u4f20\u75be\u75c5\u53d8\u5f02\u5206\u7c7b\u6307\u5bfc\u6ce8\u91ca\u4e34\u5e8a\u610f\u4e49\uff0c\u5e76\u9644\u4e0a\u6570\u636e\u5e93\u548c\u53c2\u8003\u6587\u732e\u6765\u6e90\u3002\u9634\u6027\u7ed3\u679c\u5e76\u4e0d\u80fd\u5b8c\u5168\u6392\u9664\u60a3\u8005\u4e0d\u5b58\u5728\u57fa\u56e0\u7a81\u53d8\uff0c\u53ef\u80fd\u662f\u7531\u4e8e\u68c0\u51fa\u7075\u654f\u5ea6\u6216\u68c0\u6d4b\u533a\u57df\u5c40\u9650\u6027\u6240\u81f4\uff0c\u62a5\u544a\u4e2d\u5e94\u5f53\u4ee5\u533b\u5e08\u53ef\u4ee5\u7406\u89e3\u7684\u65b9\u5f0f\u5bf9\u6b64\u4e88\u4ee5\u8bf4\u660e\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u4e09\u3001\u8d28\u91cf\u7ba1\u7406\u4e0e\u63a7\u5236<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\u5b9e\u9a8c\u5ba4\u8981\u6c42\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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NGS\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u7684\u603b\u4f53\u8bbe\u8ba1\u4e0e\u8981\u6c42\u5e94\u53c2\u8003\u300a\u5206\u5b50\u75c5\u7406\u8bca\u65ad\u5b9e\u9a8c\u5ba4\u5efa\u8bbe\u6307\u5357\uff08\u8bd5\u884c\uff09\u300b\u3001\u300a\u533b\u7597\u673a\u6784\u4e34\u5e8a\u57fa\u56e0\u6269\u589e\u68c0\u9a8c\u5b9e\u9a8c\u5ba4\u5de5\u4f5c\u5bfc\u5219\u300b\u7b49\u884c\u4e1a\u6587\u732e\u548c\u8981\u6c42\u3002\u68c0\u6d4b\u4eba\u5458\u3001\u751f\u7269\u4fe1\u606f\u5206\u6790\u4eba\u5458\u3001\u62a5\u544a\u5206\u6790\u4eba\u5458\u548c\u63d0\u4f9b\u54a8\u8be2\u4eba\u5458\u5e94\u5177\u5907\u76f8\u5e94\u4e13\u4e1a\u80cc\u666f\u4e14\u7ecf\u8fc7\u76f8\u5e94\u57f9\u8bad\u53d6\u5f97\u4e0a\u5c97\u8d44\u8d28\u3002\u5b9e\u9a8c\u5ba4\u533a\u57df\u8bbe\u7f6e\u548c\u73af\u5883\u9700\u8981\u6ee1\u8db3\u5b9e\u9a8c\u73af\u8282\u548c\u4eea\u5668\u8981\u6c42\u3002NGS\u68c0\u6d4b\u8bd5\u5242\u53ca\u6d4b\u5e8f\u5e73\u53f0\u5e94\u9996\u9009CFDA\u8ba4\u53ef\u7684\u4ea7\u54c1\u3002\u6d89\u53ca\u5b9e\u9a8c\u5ba4\u81ea\u914d\u8bd5\u5242\u3001\u63a2\u9488\u7b49\uff0c\u5e94\u8be5\u6709\u4e25\u683c\u7684\u8bd5\u5242\u5236\u5907\u6807\u51c6\u64cd\u4f5c\u89c4\u7a0b\uff08SOP\uff09\uff0c\u5e76\u7ecf\u8fc7\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u81ea\u5efa\u9879\u76ee(LDT<\/span>)\u9a8c\u8bc1\u5408\u683c\u540e\u65b9\u53ef\u4f7f\u7528<\/span><\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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2<\/strong><\/p>\n<\/section>\n

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\u8d28\u91cf\u63a7\u5236\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

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NGS\u5b9e\u9a8c\u5ba4\u5e94\u5efa\u7acb\u8d28\u91cf\u7ba1\u7406\u4f53\u7cfb\uff0c\u5bf9\u4e8e\u6807\u672c\u91c7\u96c6\u548c\u5904\u7406\u3001\u5b9e\u9a8c\u64cd\u4f5c\u3001\u751f\u7269\u4fe1\u606f\u5206\u6790\u548c\u62a5\u544a\u5206\u6790\u5404\u4e2a\u73af\u8282\u5747\u9700\u8981\u5efa\u7acbSOP\u6587\u4ef6\uff0c\u5b9e\u9a8c\u64cd\u4f5c\u7a0b\u5e8f\u548c\u751f\u7269\u4fe1\u606f\u5206\u6790\u987b\u7ecf\u8fc7\u6027\u80fd\u9a8c\u8bc1\u6216\u786e\u8ba4.<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\"\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5728\u8840\u6db2\u80bf\u7624\u4e2d\u7684\u5e94\u7528\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6<\/section>\n<\/section>\n<\/section>\n
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\"\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5728\u8840\u6db2\u80bf\u7624\u4e2d\u7684\u5e94\u7528\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6<\/section>\n<\/section>\n<\/section>\n
\n
\n
\"\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5728\u8840\u6db2\u80bf\u7624\u4e2d\u7684\u5e94\u7528\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6<\/section>\n<\/section>\n<\/section>\n
\n
\n
\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n

\u5b9e\u9a8c\u73af\u8282\u9700\u8981\u8bbe\u7f6e\u9634\/\u9633\u6027\u5bf9\u7167\u3002\u9633\u6027\u5bf9\u7167\u4e00\u822c\u91c7\u7528\u5305\u542b\u5df2\u77e5\u7a81\u53d8\u4fe1\u606f\u7684\u6df7\u5408\u6837\u672c\u4f5c\u4e3a\u8d28\u63a7\u6750\u6599\uff0c\u5e76\u4e14\u5176\u4e2d\u5e94\u5f53\u5305\u542b\u6700\u4f4e\u68c0\u6d4b\u9650\u7684\u7a81\u53d8\u4f4d\u70b9\uff0c\u5b9e\u9a8c\u65f6\u540c\u65f6\u8fdb\u884c\u68c0\u6d4b\uff0c\u4ee5\u786e\u4fdd\u5176\u68c0\u51fa\u80fd\u529b\u3002\u9634\u6027\u5bf9\u7167\u4e00\u822c\u91c7\u7528\u660e\u786e\u65e0\u7a81\u53d8\u6216\u65e0\u6838\u9178\u7684\u6837\u672c\u4f5c\u4e3a\u8d28\u63a7\u6750\u6599\uff0c\u5b9e\u9a8c\u65f6\u540c\u65f6\u8fdb\u884c\u68c0\u6d4b\uff0c\u4ee5\u786e\u4fdd\u5b9e\u9a8c\u8fc7\u7a0b\u4e2d\u65e0\u6c61\u67d3\u53ca\u65e0\u975e\u7279\u5f02\u6027\u3002
<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\n

\u6837\u672c\u8d28\u91cf\u95ee\u9898\u3001\u68c0\u6d4b\u8fc7\u7a0b\u7684\u4e0d\u786e\u5b9a\u56e0\u7d20\u4ee5\u53ca\u6570\u636e\u5206\u6790\u53ef\u80fd\u5b58\u5728\u7684\u6f0f\u6d1e\uff0c\u90fd\u53ef\u80fd\u5bfc\u81f4\u68c0\u6d4b\u7ed3\u679c\u4e2d\u5b58\u5728\u5047\u9633\u6027\u6216\u8005\u5047\u9634\u6027\u3002\u5b9e\u9a8c\u5ba4\u9700\u8981\u786e\u5b9a\u9002\u5b9c\u7684cut off\u503c\uff0c\u5728cut off\u503c\u4ee5\u4e0a\u7684\u7ed3\u679c\u53ef\u4ee5\u91c7\u7528\u81ea\u52a8\u5316\u7ed3\u679c\uff0c\u4f46\u82e5\u51fa\u73b0\u6bd4\u8f83\u7591\u4f3c\u5355\u78b1\u57fa\u63d2\u5165\u6216\u7f3a\u5931\u7684\u672a\u77e5\u7a81\u53d8\uff0c\u5efa\u8bae\u8fdb\u884c\u4eba\u5de5\u6838\u5bf9\uff0c\u5e76\u91c7\u7528Sanger\u6d4b\u5e8f\u3001ARMS-PCR\u3001\u6570\u5b57PCR\u7b49\u65b9\u6cd5\u8fdb\u884c\u9a8c\u8bc1\u3002\u800c\u5bf9\u4e8ecut off\u503c\u4ee5\u4e0b\u7684\u6709\u610f\u4e49\u4f4d\u70b9\u5fc5\u987b\u8fdb\u884c\u4eba\u5de5\u6838\u5bf9\uff0c\u540c\u65f6\u91c7\u7528ARMS-PCR\u3001\u6570\u5b57PCR\u6216\u4e8c\u6b21\u5efa\u5e93\/\u6d4b\u5e8f\u65b9\u6cd5\u8fdb\u884c\u9a8c\u8bc1\u3002\u5f88\u591a\u5b9e\u9a8c\u5ba4\u7684NGS\u6d4b\u5e8f\u5e73\u53f0\u90fd\u53ef\u80fd\u4f1a\u51fa\u73b0\u4e00\u5b9a\u6570\u91cf\u7684”\u5b9e\u9a8c\u5ba4\u7279\u5f02\u6027”\u7684\u7a81\u53d8\uff0c\u6b64\u7c7b\u7a81\u53d8\u662f\u8be5\u68c0\u6d4b\u7cfb\u7edf\u7279\u6709\u7684\u5047\u9633\u6027\u7a81\u53d8\uff0c\u5e94\u5728\u62a5\u544a\u65f6\u4e88\u4ee5\u5254\u9664\u3002<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n
\n

3<\/strong><\/p>\n<\/section>\n

\n

\u4fe1\u606f\u7cfb\u7edf\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n

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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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\n
\n

4<\/strong><\/p>\n<\/section>\n

\n

\u6837\u672c\u7ba1\u7406\uff1a<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
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\n
\n
\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
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\n

\u56db\u3001\u603b\u7ed3<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

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\n

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\n
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\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
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<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
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\n
\n
\n

\u59d4\u5458\u4f1a\u6210\u5458<\/strong><\/p>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n<\/section>\n

\n
\n
\n


<\/p>\n<\/section>\n<\/section>\n<\/section>\n

\n
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[1] <\/span>National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology-Acute Myeloid Leukemia \uff08Version 2.2018\uff09[S\/OL].(2018-08-01)[2018-09-18]. https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/aml.pdf.<\/span>
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[2] <\/span>National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology-Myelodysplastic Syndromes \uff08Version 1.2019\uff09[S\/OL].(2018-07-16)[2018-09-18]. https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/mds.pdf.<\/span><\/p>\n

[3] <\/span>National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology-T- Lymphomas\uff08Version 5.2018\uff09[S\/OL].(2018-08-13)[2018-09-18]. https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/t-cell.pdf.<\/span><\/p>\n

[4] <\/span>SwerdlowSH,CampoE,HarrisNL, et al. WHO classification of tumours of haematopoietic and lymphoid tissues\uff08Revised 4th edition\uff09. Lyon: IARC Press, 2017.<\/span><\/p>\n

[5] <\/span>\u4e2d\u534e\u533b\u5b66\u4f1a\u8840\u6db2\u5b66\u5206\u4f1a\u767d\u8840\u75c5\u6dcb\u5df4\u7624\u5b66\u7ec4.\u6210\u4eba\u6025\u6027\u9ad3\u7cfb\u767d\u8840\u75c5\uff08\u975e\u6025\u6027\u65e9\u5e7c\u7c92\u7ec6\u80de\u767d\u8840\u75c5\uff09\u4e2d\u56fd\u8bca\u7597\u6307\u5357\uff082017\u5e74\u7248\uff09[J].\u4e2d\u534e\u8840\u6db2\u5b66\u6742\u5fd7, 2017, 38(3):177-182. DOI: 10.3760\/cma.j.issn.0253-2727.2017.03.001.<\/span><\/p>\n

[6] <\/span>\u4e2d\u534e\u533b\u5b66\u4f1a\u8840\u6db2\u5b66\u5206\u4f1a\u767d\u8840\u75c5\u6dcb\u5df4\u7624\u5b66\u7ec4,\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u8840\u6db2\u80bf\u7624\u4e13\u4e1a\u59d4\u5458\u4f1a,\u4e2d\u56fd\u6162\u6027\u6dcb\u5df4\u7ec6\u80de\u767d\u8840\u75c5\u5de5\u4f5c\u7ec4. B\u7ec6\u80de\u6162\u6027\u6dcb\u5df4\u589e\u6b96\u6027\u75be\u75c5\u8bca\u65ad\u4e0e\u9274\u522b\u8bca\u65ad\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6\uff082018\u5e74\u7248\uff09[J].\u4e2d\u534e\u8840\u6db2\u5b66\u6742\u5fd7, 2018, 39(5):359-365. DOI: 10.3760\/cma.j.issn.0253-2727.2018.05.002.<\/span><\/p>\n

[7] <\/span>\u4e2d\u534e\u533b\u5b66\u4f1a\u8840\u6db2\u5b66\u5206\u4f1a\u767d\u8840\u75c5\u6dcb\u5df4\u7624\u5b66\u7ec4,\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u8840\u6db2\u80bf\u7624\u4e13\u4e1a\u59d4\u5458\u4f1a,\u4e2d\u56fd\u6162\u6027\u6dcb\u5df4\u7ec6\u80de\u767d\u8840\u75c5\u5de5\u4f5c\u7ec4.\u4e2d\u56fd\u6162\u6027\u6dcb\u5df4\u7ec6\u80de\u767d\u8840\u75c5\/\u5c0f\u6dcb\u5df4\u7ec6\u80de\u6dcb\u5df4\u7624\u7684\u8bca\u65ad\u4e0e\u6cbb\u7597\u6307\u5357\uff082018\u5e74\u7248\uff09[J].\u4e2d\u534e\u8840\u6db2\u5b66\u6742\u5fd7, 2018, 39(5): 353-358. DOI: 10.3760\/cma.j.issn.0253-2727.2018.05.001.<\/span><\/p>\n

[8] <\/span>HallekM,ChesonBD,CatovskyD, et al. iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL[J]. Blood, 2018, 131(25):2745-2760. DOI: 10.1182\/blood-2017-09-806398.<\/span><\/p>\n

[9] <\/span>Kr\u00f6nkeJ,SchlenkRF,JensenKO, et al. Monitoring of minimal residual disease in NPM1-mutated acute myeloid leukemia: a study from the German-Austrian acute myeloid leukemia study group[J]. J Clin Oncol, 2011, 29(19):2709-2716. DOI: 10.1200\/JCO.2011.35.0371.<\/span><\/p>\n

[10] <\/span>DingL,LeyTJ,LarsonDE, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing[J]. Nature, 2012, 481(7382):506-510. DOI: 10.1038\/nature10738.<\/span><\/p>\n

[11] <\/span>\u300a\u4e34\u5e8a\u5206\u5b50\u75c5\u7406\u5b9e\u9a8c\u5ba4\u4e8c\u4ee3\u57fa\u56e0\u6d4b\u5e8f\u68c0\u6d4b\u4e13\u5bb6\u5171\u8bc6\u300b\u7f16\u5199\u7ec4.\u4e34\u5e8a\u5206\u5b50\u75c5\u7406\u5b9e\u9a8c\u5ba4\u4e8c\u4ee3\u57fa\u56e0\u6d4b\u5e8f\u68c0\u6d4b\u4e13\u5bb6\u5171\u8bc6[J].\u4e2d\u534e\u75c5\u7406\u5b66\u6742\u5fd7, 2017, 46(3):145-148. DOI: 10.3760\/cma.j.issn.0529-5807.2017.03.001.<\/span><\/p>\n

[12] <\/span>JenningsLJ,ArcilaME,CorlessC, et al. Guidelines for validation of next-generation sequencing-based oncology panels: a joint consensus recommendation of the Association for Molecular Pathology and College of American Pathologists[J]. J Mol Diagn, 2017, 19(3): 341-365. DOI: 10.1016\/j.jmoldx.2017.01.011.<\/span><\/p>\n

[13] <\/span>FerrandoAA. The role of NOTCH1 signaling in T-ALL[J]. Hematology Am Soc Hematol Educ Program, 2009:353-361. DOI: 10.1182\/asheducation-2009.1.353.<\/span><\/p>\n

[14] <\/span>LossosIS,LevyR. Mutation analysis of the 5′ noncoding regulatory region of the BCL-6 gene in non-Hodgkin lymphoma: evidence for recurrent mutations and intraclonal heterogeneity[J]. Blood.2000, 95(4):1400-1405.<\/span><\/p>\n

[15] <\/span>\u4e2d\u56fd\u4e34\u5e8a\u80bf\u7624\u5b66\u4f1a\u80bf\u7624\u6807\u5fd7\u7269\u4e13\u5bb6\u59d4\u5458\u4f1a,\u4e2d\u56fd\u80bf\u7624\u9a71\u52a8\u57fa\u56e0\u5206\u6790\u8054\u76df.\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5728\u80bf\u7624\u7cbe\u51c6\u533b\u5b66\u8bca\u65ad\u4e2d\u7684\u5e94\u7528\u4e13\u5bb6\u5171\u8bc6[J].\u4e2d\u534e\u533b\u5b66\u6742\u5fd7, 2018, 98(26):2057-2065. DOI: 10.3760\/cma.j.issn.0376-2491.2018.26.001.<\/span><\/p>\n

[16] <\/span>MatthijsG,SoucheE,AldersM, et al. Guidelines for diagnostic next-generation sequencing[J]. Eur J Hum Genet, 2016, 24(1):2-5. DOI: 10.1038\/ejhg.2015.226.<\/span><\/p>\n

[17] <\/span>LiMM,DattoM,DuncavageEJ, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists[J]. J Mol Diagn, 2017, 19(1):4-23. DOI: 10.1016\/j.jmoldx.2016.10.002.<\/span><\/p>\n

[18] <\/span>\u4e2d\u534e\u4eba\u6c11\u5171\u548c\u56fd\u536b\u751f\u90e8.\u80bf\u7624\u4e2a\u4f53\u5316\u6cbb\u7597\u68c0\u6d4b\u6280\u672f\u6307\u5357\uff08\u8bd5\u884c\uff09[S]. 2015-7-31.<\/span><\/p>\n

[19] <\/span>\u4e2d\u56fd\u533b\u5e08\u534f\u4f1a\u68c0\u9a8c\u533b\u5e08\u5206\u4f1a\u5206\u5b50\u8bca\u65ad\u4e13\u5bb6\u59d4\u5458\u4f1a.\u4e34\u5e8a\u57fa\u56e0\u68c0\u9a8c\u8bca\u65ad\u62a5\u544a\u6a21\u5f0f\u4e13\u5bb6\u5171\u8bc6[J].\u4e2d\u534e\u533b\u5b66\u6742\u5fd7, 2016, 96(14):1087-1090. DOI: 10.3760\/cma.j.issn.0376-2491.2016.14.005.<\/span><\/p>\n

[20] <\/span>\u9ec4\u8f89,\u6c88\u4ea6\u5e73,\u987e\u536b\u7ea2,\u7b49.\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u89c4\u8303\u4e0e\u57fa\u56e0\u68c0\u6d4b\u884c\u4e1a\u5171\u8bc6\u63a2\u8ba8[J].\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7, 2018, 38(1):1-8. DOI: 10.3760\/cma.j.issn.1003-9406.2018.01.001.<\/span><\/p>\n

[21] <\/span>\u4e2d\u534e\u533b\u5b66\u4f1a\u75c5\u7406\u5b66\u5206\u4f1a,\u4e2d\u56fd\u533b\u5e08\u534f\u4f1a\u75c5\u7406\u79d1\u533b\u5e08\u5206\u4f1a,\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u80bf\u7624\u75c5\u7406\u4e13\u4e1a\u59d4\u5458\u4f1a,\u7b49.\u5206\u5b50\u75c5\u7406\u8bca\u65ad\u5b9e\u9a8c\u5ba4\u5efa\u8bbe\u6307\u5357\uff08\u8bd5\u884c\uff09[J].\u4e2d\u534e\u75c5\u7406\u5b66\u6742\u5fd7, 2015, 44(6): 369-371. DOI: 10.3760\/cma.j.issn.0529-5807.2015.06.001.<\/span><\/p>\n

[22] <\/span>\u4e2d\u534e\u4eba\u6c11\u5171\u548c\u56fd\u536b\u751f\u90e8.\u533b\u7597\u673a\u6784\u4e34\u5e8a\u57fa\u56e0\u6269\u589e\u68c0\u9a8c\u5b9e\u9a8c\u5ba4\u7ba1\u7406\u529e\u6cd5[S]. 2010-12-06.<\/span><\/p>\n<\/section>\n<\/section>\n<\/section>\n


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