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\u00a0<\/div>\n
\u7f55\u89c1\u75c5\u662f\u8fd1\u5e74\u6765\u57fa\u56e0\u7ec4\u533b\u5b66\u7684\u4e00\u4e2a\u70ed\u70b9\u3002\u5927\u90e8\u5206\u7f55\u89c1\u75c5\u5c5e\u4e8e\u5b5f\u5fb7\u5c14\u9057\u4f20\u75c5\uff0c\u4e5f\u79f0\u5355\u57fa\u56e0\u75c5\uff0c\u65e2\u7531\u5355\u4e2a\u57fa\u56e0\u53d8\u5f02\u6240\u5bfc\u81f4\u3002\u636e\u4f30\u7b97\u76ee\u524d\u7ea6\u67096000\uff5e8000\u79cd\u7f55\u89c1\u75c5\uff0c\u53d7\u7d2f\u4eba\u6570\u7ea6\u5360\u4eba\u53e3\u76846\uff5e8%\uff0c\u5176\u4e2d3600\u79cd\u53ef\u4ee5\u8fdb\u884c\u9057\u4f20\u8bca\u65ad\uff082010\u5e74\u65f6\u662f2200\u79cd\uff093\uff0c4\u3002\u65b0\u4e00\u4ee3\u9ad8\u901a\u91cf\u6d4b\u5e8f\u6280\u672f\u62d3\u5c55\u4e86\u7f55\u89c1\u75c5\u7684\u7814\u7a76\u624b\u6bb5\uff0c\u52a0\u5feb\u4e86\u81f4\u75c5\u57fa\u56e0\u7684\u53d1\u73b0\u901f\u5ea6\uff08\u5e73\u5747\u6bcf\u5e74\u65b0\u53d1\u73b0\u75be\u75c5260\uff5e280\u79cd\uff09\uff0c\u63d0\u9ad8\u4e86\u75be\u75c5\u8bca\u65ad\u7387\uff08\u8bca\u65ad\u7387\u4ece10% \u63d0\u9ad8\u523030-50%\uff093\uff0c4\u3002<\/div>\n
\u00a0<\/div>\n
\u5728\u6b64\u5f62\u52bf\u4e0b\uff0c\u56fd\u9645\u4e0a\u4e00\u4e9b\u673a\u6784\u4e0e\u5b66\u672f\u7ec4\u7ec7\u9646\u7eed\u542f\u52a8\u4e86\u7f55\u89c1\u75c5\u76f8\u5173\u7684\u7814\u7a76\u8ba1\u5212\uff0c\u4ee5\u6c47\u96c6\u79d1\u7814\u3001\u4e34\u5e8a\u3001\u836f\u4f01\u3001\u60a3\u8005\u7ec4\u7ec7\u7b49\u529b\u91cf\u5728\u77ed\u65f6\u95f4\u5185\u653b\u514b\u8fd9\u4e00\u533b\u5b66\u96be\u9898\u3002\u7f55\u89c1\u75c5\u4e5f\u662f\u4e00\u4e9b\u5927\u578b\u57fa\u56e0\u7ec4\u9879\u76ee\uff08\u5982\u82f1\u56fd10\u4e07\u57fa\u56e0\u7ec4\u8ba1\u5212\uff09\u7684\u5de5\u4f5c\u91cd\u70b9\u3002<\/div>\n
2011\u5e74\u6210\u7acb\u7684\u56fd\u9645\u7f55\u89c1\u75c5\u7814\u7a76\u534f\u4f5c\u7ec4\uff08IRDiRC\uff09\u662f\u8fd9\u4e00\u9886\u57df\u6700\u6709\u5f71\u54cd\u529b\u7684\u7ec4\u7ec7\u4e4b\u4e00\uff0c\u5176\u8fdb\u5c55\u5728\u4e00\u5b9a\u7a0b\u5ea6\u4e0a\u53cd\u6620\u4e86\u6574\u4e2a\u7f55\u89c1\u75c5\u9886\u57df\u7684\u60c5\u51b5\u3002\u8be5\u7ec4\u7ec7\u6210\u7acb\u4e4b\u521d\u8bbe\u6709\u4e24\u4e2a\u76ee\u6807\uff1a\u52302020\u5e74\uff0c\u7814\u53d1200\u79cd\u7f55\u89c1\u75c5\u65b0\u7597\u6cd5\uff1b\u80fd\u591f\u8bca\u65ad\u5927\u90e8\u5206\u7f55\u89c1\u75c5\u3002\u76ee\u6807\u4e00\u57282017\u5e74\u521d\u5df2\u63d0\u524d\u5b9e\u73b0\uff0c\u76ee\u6807\u4e8c\u4e5f\u5df2\u63a5\u8fd1\u5b8c\u6210\u3002\u9274\u4e8e\u6b64\uff0c\u8be5\u7ec4\u7ec7\u4e8e2017\u5e74\u8bbe\u7f6e\u4e86\u65b0\u76ee\u6807\uff0c\u5176\u613f\u666f\u662f\u4f7f\u6240\u6709\u7f55\u89c1\u75c5\u60a3\u8005\u5728\u63a5\u53d7\u533b\u7597\u6551\u52a9\u7684\u4e00\u5e74\u5185\uff0c\u80fd\u591f\u5f97\u5230\u51c6\u786e\u7684\u8bca\u65ad\u4e0e\u62a4\u7406\u6cbb\u7597\uff0c\u672a\u80fd\u8bca\u65ad\u7684\u60a3\u8005\u5c06\u8fdb\u5165\u5168\u7403\u6027\u7684\u8bca\u65ad\u4e0e\u7814\u7a76\u534f\u4f5c\u901a\u9053\uff0c\u4ee5\u52a0\u901f\u8fdb\u5c55\uff1b\u6b64\u5916\uff0c\u8fd8\u8981\u5f00\u53d11000\u4e2a\u7f55\u89c1\u75c5\u65b0\u7597\u6cd54\u3002<\/div>\n
\u00a0<\/div>\n
\u5728\u8bca\u65ad\u672a\u660e\u75be\u75c5\u65b9\u9762\uff0c\u89e3\u7801\u53d1\u80b2\u5f02\u5e38\u75be\u75c5\u7684DDD\u7814\u7a76\u8ba1\u5212\u662f\u6bd4\u8f83\u6709\u5f71\u54cd\u529b\u7684\u9879\u76ee\u3002\u8be5\u9879\u76ee\u7531\u82f1\u56fd\u56fd\u5bb6\u5065\u5eb7\u7cfb\u7edf\uff08NHS\uff09\u4e0e\u5168\u7403\u4e09\u5927\u6d4b\u5e8f\u4e2d\u5fc3\u4e4b\u4e00\u7684\u6851\u683c\u4e2d\u5fc3\u5408\u4f5c\u53d1\u8d77\uff0c\u9762\u5411\u5168\u82f1\u56fd\uff0c\u65e8\u5728\u5c06\u57fa\u56e0\u7ec4\u6280\u672f\u7528\u4e8e\u53d1\u73b0\u513f\u7ae5\u53d1\u80b2\u5f02\u5e38\u75be\u75c5\u7684\u9057\u4f20\u5b66\u75c5\u56e0\uff0c\u5e76\u7528\u4e8e\u8bca\u65ad\uff0c\u4ece\u800c\u63d0\u5347\u8fd9\u7c7b\u75be\u75c5\u7684\u4e34\u5e8a\u8bca\u7597\u6c34\u5e73\u30022016\u5e74\u7684\u8d44\u6599\u663e\u793a\uff0c\u8be5\u8ba1\u5212\u5df2\u7ecf\u8bca\u65ad\u4e86\u51e0\u5343\u4f8b\u60a3\u513f\uff0c\u9274\u5b9a\u51fa30\u591a\u4e2a\u65b0\u7684\u9057\u4f20\u5f02\u5e38\uff0c\u5c06\u60a3\u8005\u8bca\u65ad\u7387\u63d0\u5347\u5230\uff5e40%5\uff0c\u8fd9\u662f\u4e00\u4e2a\u524d\u6240\u672a\u6709\u7684\u6c34\u5e73\u3002 \u76ee\u524d\u8be5\u8ba1\u5212\u62db\u52df\u768412,000\u540d\u53d1\u80b2\u5f02\u5e38\u7684\u513f\u7ae5\uff0c\u7edd\u5927\u591a\u6570\u5df2\u83b7\u5f97\u68c0\u6d4b\u7ed3\u679c\uff0c\u5bf9\u5176\u4e2d\u8bca\u65ad\u672a\u660e\u75be\u75c5\u7684\u6709\u5173\u7814\u7a76\u5de5\u4f5c\u5c06\u6301\u7eed\u52302021\u5e74\u3002<\/div>\n
\u00a0<\/div>\n
\u5bf9\u4e8e\u79d1\u5b66\u4e0a\u5df2\u7ecf\u660e\u786e\u7684\u81f4\u75c5\u6027\u57fa\u56e0\u7ec4\u53d8\u5f02\u7684\u68c0\u6d4b\uff0c\u9ad8\u901a\u91cf\u6d4b\u5e8f\u6280\u672f\u5df2\u7ecf\u5f00\u59cb\u5e94\u7528\u4e8e\u51fa\u751f\u7f3a\u9677\u4e09\u7ea7\u9884\u9632\u7684\u5404\u4e2a\u9636\u6bb5\u3002\u6211\u4eec\u5355\u4f4d\u79f0\u4e4b\u4e3a\u201c\u4e94\u524d\u201d\uff0c\u5305\u62ec\u5a5a\u524d\u3001\u5b55\u524d\u3001\u8f85\u52a9\u751f\u6b96\u4e2d\u7684\u690d\u5165\u524d\u3001\u4ea7\u524d\u3001\u65b0\u751f\u513f\u4e0e\u5b66\u9f84\u524d\u9636\u6bb5\uff08\u6307\u4ee3\u513f\u7ae5\u671f\uff09\u3002<\/div>\n
\u5176\u4e2d\uff0c\u5173\u6ce8\u8f83\u591a\u3001\u4e89\u8bae\u4e5f\u8f83\u591a\u7684\u5f53\u5c5e\u65b0\u751f\u513f\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u3002\u76ee\u524dDNA\u68c0\u6d4b\u5c1a\u4e0d\u662f\u65b0\u751f\u513f\u7b5b\u67e5\u7684\u5e38\u89c4\u624b\u6bb5\uff0c\u4f46\u6211\u4eec\u4e5f\u770b\u5230\u57fa\u4e8eNGS\u7684\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u5df2\u7ecf\u6210\u529f\u7528\u4e8e\u91cd\u75c7\u65b0\u751f\u513f\u75be\u75c5\u8bca\u65ad6\u3002\u76ee\u524d\u6211\u56fd\u5b66\u8005\u4e5f\u5f00\u59cb\u4e86\u8fd9\u65b9\u9762\u7684\u63a2\u7d22\u60277\uff0c\u76f8\u4fe1\u5176\u6570\u636e\u5c06\u4e3a\u4e34\u5e8a\u51b3\u7b56\u63d0\u4f9b\u4f9d\u636e\u3002\u524d\u51e0\u65e5\uff0c\u7f8e\u56fd\u7684\u65b0\u751f\u513f\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4e34\u5e8a\u8bd5\u9a8c\u9879\u76eeBabySeq\u53d1\u8868\u4e86\u5728159\u540d\u65b0\u751f\u513f\u4e2d\u7684\u7814\u7a76\u6570\u636e\uff0c\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u53ef\u4ee5\u5b9e\u73b0\u591a\u79cd\u9057\u4f20\u75c5\u540c\u65f6\u68c0\u6d4b\uff0c\u8fd8\u53ef\u4ee5\u53d1\u73b0\u76ee\u524d\u7b5b\u67e5\u624b\u6bb5\u65e0\u6cd5\u68c0\u51fa\u7684\u75be\u75c58\u3002<\/div>\n
\u00a0<\/div>\n
\u5bf9\u4e8e\u513f\u7ae5\u9057\u4f20\u75c5\uff0c\u8fd1\u5e74\u6765\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff08WGS\uff09\u548c\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08WES\uff09\u5df2\u7ecf\u5f00\u59cb\u5e7f\u6cdb\u5e94\u7528\u4e8e\u7591\u4f3c\u9057\u4f20\u6027\u75be\u75c5\u30022018\u5e74\u7f8e\u56fd\u7684\u4e00\u9879\u835f\u8403\u5206\u6790\u5305\u542b\u4e862\u4e07\u4f59\u540d\u513f\u7ae5\u3002\u7814\u7a76\u663e\u793a\uff0c\u5bf9\u4e8e\u7591\u4f3c\u9057\u4f20\u75c5\uff0cWGS\u4e0eWES\u7684\u8bca\u65ad\u7387\u5747\u663e\u8457\u9ad8\u4e8e\u67d3\u8272\u4f53\u5fae\u9635\u5217\uff08\u7f8e\u56fd\u7528\u4e8e\u67d0\u4e9b\u9057\u4f20\u75c5\u60a3\u513f\u7684\u4e00\u7ebf\u8bca\u65ad\u65b9\u6cd5\uff09\u3002\u8be5\u6587\u901a\u8baf\u4f5c\u8005\u662f\u4e00\u4f4d\u8457\u540d\u513f\u79d1\u4e13\u5bb6\uff0c\u5176\u8ba4\u4e3a\u4e0e\u67d3\u8272\u4f53\u5fae\u9635\u5217\u76f8\u6bd4\uff0c\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u66f4\u5e94\u8be5\u4f5c\u4e3a\u513f\u7ae5\u9057\u4f20\u75be\u75c5\u7684\u4e00\u7ebf\u8bca\u65ad\u5de5\u51779\u3002\u7531\u4e8e\u5927\u90e8\u5206\u7f55\u89c1\u75c5\u90fd\u5f71\u54cd\u513f\u7ae5\uff0c\u56fd\u5916\u6709\u5b66\u8005\u63d0\u51fa\u4e86\u513f\u79d1\u57fa\u56e0\u7ec4\u5b66\uff08Paediatricgenomics\uff09\u8fd9\u4e00\u6982\u5ff5\u3002\u8fd9\u4e00\u65b0\u9886\u57df\u4e3b\u8981\u63a2\u7d22\u5982\u4f55\u5c06NGS\u7279\u522b\u662fWGS\u4e0eWES\u7eb3\u5165\u79d1\u7814\u4e0e\u4e34\u5e8a\u5de5\u4f5c10\u3002<\/div>\n
\u00a0<\/div>\n
\u5bf9\u5355\u57fa\u56e0\u9057\u4f20\u75c5\u7684\u7814\u7a76\uff0c\u53ef\u4ee5\u4e3a\u65b0\u7597\u6cd5\u5f00\u53d1\u63d0\u4f9b\u601d\u8def\u3002\u6bd4\u5982\uff0c\u5982\u679c\u4e0d\u540c\u75be\u75c5\u4e4b\u95f4\u5b58\u5728\u5171\u6709\u7684\u751f\u7269\u5b66\u901a\u8def\uff0c\u90a3\u4e48\u4e00\u79cd\u836f\u7269\u5219\u80fd\u591f\u540c\u65f6\u9488\u5bf9\u591a\u79cd\u75be\u75c5\u8fdb\u884c\u8bca\u7597\uff0c\u4e00\u77f3\u591a\u9e1f\u3002\u540c\u65f6\uff0c\u57fa\u56e0\u6cbb\u7597\u548c\u57fa\u56e0\u7f16\u8f91\u6280\u672f\u4e5f\u53d6\u5f97\u4e86\u957f\u8db3\u8fdb\u6b65\uff0c\u6709\u671b\u5728\u5355\u57fa\u56e0\u75c5\u6cbb\u7597\u4e2d\u53d1\u6325\u91cd\u8981\u4f5c\u7528\uff08\u524d\u63d0\u662f\u7b26\u5408\u79d1\u5b66\u539f\u7406\u4e0e\u4f26\u7406\u5b66\u51c6\u5219\uff09\u30022017\u5e74\uff0cFDA\u6279\u51c6\u4e86\u7528\u4ee5\u6cbb\u7597RPE65\u57fa\u56e0\u7f3a\u9677\u9057\u4f20\u773c\u75c5\u7684\u57fa\u56e0\u6cbb\u7597\u4ea7\u54c1Luxturna\u3002\u8fd9\u662f\u7f8e\u56fd\u9996\u6b21\u6279\u51c6\u9488\u5bf9\u7279\u5b9a\u57fa\u56e0\u7f3a\u9677\u7684\u57fa\u56e0\u6cbb\u7597\u3002\u5c3d\u7ba1\u76ee\u524d\u4ef7\u683c\u6602\u8d35\uff0c\u4f46\u603b\u7b97\u6709\u4e86\u4e2a\u5f00\u59cb\u3002\u9488\u5bf9\u9057\u4f20\u673a\u5236\u6e05\u695a\u3001\u81f4\u75c5\u57fa\u56e0\u660e\u786e\u3001\u4e25\u91cd\u5f71\u54cd\u5065\u5eb7\uff0c\u540c\u65f6\u5177\u5907\u9632\u6cbb\u65b9\u6cd5\u7684\u9057\u4f20\u75c5\uff0c\u6bd4\u5982\u91cd\u75c7\u5730\u4e2d\u6d77\u8d2b\u8840\u7b49\uff0c\u901a\u8fc7\u591a\u4e2a\u9636\u6bb5\u3001\u591a\u79cd\u57fa\u56e0\u6280\u672f\u7684\u7efc\u5408\u8fd0\u7528\uff0c\u5c06\u6709\u671b\u5b9e\u73b0\u75be\u75c5\u7684\u5168\u9762\u9632\u6cbb\u3002<\/div>\n
\u00a0<\/div>\n
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\n
\"RmFicvQBAkgBeoZ9UP2RtPeYOCTBKqxdSib99fEIJRGulozJJIjT9pWo9a06Pj9RPu12UuZ3PuwSDkXuP4uphLMA\"\/<\/figure><\/div>\n\n<\/div>\n
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\u00a02\u00a0\u00a0\u00a0\u80bf\u7624\u9632\u63a7\u2014\u80bf\u7624\u57fa\u56e0\u7ec4\u5b66\u3001\u836f\u7269\u57fa\u56e0\u7ec4<\/div>\n
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\u4eba\u7c7b\u57fa\u56e0\u7ec4\u8ba1\u5212\uff08HGP\uff09\u662f\u4eba\u7c7b\u80bf\u7624\u7814\u7a76\u7684\u8f6c\u6298\u70b9\uff0c\u800cNGS\u4e3a\u4ee3\u8868\u7684\u57fa\u56e0\u7ec4\u5e8f\u5217\u6d4b\u5b9a\u4e0e\u5206\u6790\u6280\u672f\u5219\u4e3a\u80bf\u7624\u9632\u63a7\u63d0\u4f9b\u4e86\u5f3a\u6709\u529b\u7684\u5de5\u5177\u3002<\/div>\n
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\u73b0\u5df2\u660e\u786e\u80bf\u7624\u662f\u4e00\u7ec4\u57fa\u56e0\u7ec4\u75c5\u3002\u80bf\u7624\u53d1\u751f\u4e0e\u63a7\u5236\u7ec6\u80de\u529f\u80fd\u7279\u522b\u662f\u751f\u957f\u4e0e\u5206\u88c2\u6709\u5173\u57fa\u56e0\uff0c\u5305\u62ec\u764c\u57fa\u56e0\u3001\u6291\u764c\u57fa\u56e0\u3001DNA\u9519\u914d\u4fee\u590d\u57fa\u56e0\u7684\u6539\u53d8\u6709\u5173\u3002\u8fd9\u4e9b\u6539\u53d8\u53ef\u4ee5\u9057\u4f20\uff0c\u4f46\u5927\u90e8\u5206\u662f\u4e00\u751f\u4e2d\u968f\u673a\u53d1\u751f\uff0c\u7531\u7ec6\u80de\u5206\u88c2\u9519\u8bef\u6216\u7531\u5f15\u8d77DNA\u635f\u4f24\u7684\u81f4\u764c\u5242\u6240\u5f15\u53d1\u3002\u80bf\u7624\u53d1\u751f\u662f\u591a\u6b65\u9aa4\u7684\u8fc7\u7a0b\uff0c\u6076\u6027\u80bf\u7624\u7684\u53d1\u751f\u9700\u8981\u7a81\u53d8\u7684\u79ef\u7d2f\u3002\u4e0d\u540c\u80bf\u7624\u60a3\u8005\u90fd\u6709\u5176\u72ec\u7279\u7684\u9057\u4f20\u53d8\u5f02\u7279\u5f81\u3002<\/div>\n
<\/div>\n
\u80bf\u7624DNA\u6d4b\u5e8f\u53ef\u4f5c\u4e3a\u4e00\u79cd\u9057\u4f20\u68c0\u6d4b\uff0c\u4e5f\u79f0\u9057\u4f20\u8c31\u5206\u6790\uff08genetic profiling\uff09\uff0c\u7528\u6765\u9274\u5b9a\u4e2a\u4f53\u72ec\u7279\u7684DNA\u6539\u53d8\uff0c\u4ee5\u5e2e\u52a9\u6211\u4eec\u53d1\u73b0\u6f5c\u5728\u7684\u8bca\u65ad\u6807\u5fd7\u7269\u4e0e\u6cbb\u7597\u9776\u6807\u3002\u5f53\u524d\u5173\u6ce8\u7684\u6bd4\u8f83\u591a\u7684\u662fDNA\u6807\u5fd7\u7269\uff0c\u5176\u4ed6\u6807\u5fd7\u7269\u5982DNA\u7532\u57fa\u5316\u3001\u57fa\u56e0\u8868\u8fbe\u4ee5\u53camicroRNA\u4e5f\u5341\u5206\u91cd\u8981\u3002 <\/div>\n
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\u80bf\u7624DNA\u6d4b\u5e8f\u53ef\u4ee5\u53d1\u73b0\u4e2a\u4f53\u662f\u5426\u643a\u5e26\u4e86\u9057\u4f20\u6027\u6539\u53d8\uff0c\u4ece\u800c\u589e\u52a0\u60a3\u75c5\u98ce\u9669\uff0c\u5982\u9057\u4f20\u6027\u80bf\u7624\u7efc\u5408\u5f81\u7b49\uff0c\u5e2e\u52a9\u6211\u4eec\u53ca\u65e9\u8ba4\u77e5\u8fd9\u79cd\u98ce\u9669\u5e76\u7ed9\u4e88\u9002\u5f53\u5173\u6ce8\u3002\u57fa\u56e0\u7ec4\u4fe1\u606f\u8fd8\u53ef\u4ee5\u6307\u5bfc\u6211\u4eec\u5c06\u60a3\u8005\u5206\u6210\u4e0d\u540c\u7684\u7fa4\u4f53\uff0c\u7136\u540e\u9488\u5bf9\u4e0d\u540c\u60a3\u8005\u7fa4\u4f53\u9009\u62e9\u6700\u9002\u5408\u4ed6\u4eec\u7684\u6cbb\u7597\u65b9\u6848\u3002\u4f8b\u5982\uff0c\u80bf\u7624\u7684\u9776\u5411\u836f\u7269\u53ea\u6709\u5728\u80bf\u7624\u7ec6\u80de\u9a71\u52a8\u57fa\u56e0\u5b58\u5728\u67d0\u4e9b\u7279\u5b9a\u6539\u53d8\u65f6\u624d\u80fd\u53d1\u6325\u836f\u6548\u3002\u5bf9\u80bf\u7624DNA\u6807\u672c\u8fdb\u884c\u6d4b\u5e8f\uff0c\u80fd\u591f\u77e5\u9053\u662f\u5426\u5b58\u5728\u8fd9\u4e9b\u7a81\u53d8\uff0c\u4ece\u800c\u6307\u5bfc\u4e2a\u6027\u5316\u7684\u7528\u836f\u3002<\/div>\n
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\n\n
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\"RmFicvQBAkgBeoZ9UP2RtPeYOCTBKqxdSQNicVQsWwFGEbGDiaoibZH8OLkXrXaSVThtS2jBHFJQ8zZw6TJ3BfwArQ\"\/<\/figure><\/div>\n\n
\u76ee\u524d\uff0c\u80bf\u7624DNA\u6d4b\u5e8f\u4f7f\u7528\u8f83\u591a\u7684\u662f\u9488\u5bf9\u76ee\u6807\u57fa\u56e0\u7684\u7ec4\u5408\u6d4b\u5e8f\uff08\u57fa\u56e0panel\uff09\u3002\u5927\u90e8\u5206\u80bf\u7624\u76f8\u5173DNA\u6539\u53d8\u53d1\u751f\u5728\u57fa\u56e0\u533a\u57df\uff0c\u4f46\u975e\u57fa\u56e0\u533a\u57df\u7684\u53d8\u5f02\u4e5f\u6709\u53ef\u80fd\u9a71\u52a8\u80bf\u7624\u53d1\u751f\u53d1\u5c55\uff0c\u56e0\u6b64\u57fa\u56e0\u7ec4\u8303\u56f4\u7684\u6d4b\u5e8f\u5177\u6709\u65e0\u53ef\u66ff\u4ee3\u7684\u4ef7\u503c\u3002<\/div>\n
\u80bf\u7624DNA\u6d4b\u5e8f\u5728\u4e34\u5e8a\u76d1\u7ba1\u4e0a\u4e5f\u6709\u6240\u7a81\u7834\u30022017\u5e74\uff0c\u7f8e\u56fdFDA\u6279\u51c6\u4e86\u4e24\u9879\u80bf\u7624\u5927panel\u68c0\u6d4b\uff0c\u7528\u4e8e\u9274\u5b9a\u80bf\u7624\u7684\u9057\u4f20\u53d8\u5f02\u3002\u5176\u4e2d\uff0c\u7eaa\u5ff5\u65af\u9686-\u51ef\u7279\u7433\u764c\u75c7\u4e2d\u5fc3\u7684MSK-IMPACT\uff0c\u53ef\u68c0\u6d4b\u5b9e\u4f53\u7624\u76f8\u5173\u7684468\u4e2a\u57fa\u56e0\u7684\u4f53\u7ec6\u80de\u7a81\u53d8\u4e0e\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\uff0c\u662f\u4e00\u9879\u4f53\u5916\u8bca\u65ad\u68c0\u6d4b\u3002<\/div>\n
\u00a0<\/div>\n
FoundationMedicine\uff082018\u5e74\u88ab\u7f57\u6c0f\u6536\u8d2d\uff09\u7684FoundationOne CDx\uff0c\u8986\u76d6324\u4e2a\u57fa\u56e0\u7684\u9057\u4f20\u7a81\u53d8\u4ee5\u53ca\u4e24\u7c7b\u57fa\u56e0\u7ec4\u7279\u5f81\uff0c\u80fd\u591f\u9ad8\u6548\u68c0\u6d4b\u80bf\u7624\u57fa\u56e0\u7684SNV\u3001Indel\u3001MSI\u4ee5\u53caTMB\u7b49\uff0c\u7528\u4e8e\u6cdb\u80bf\u7624\u3001\u591a\u79cd\u9776\u836f\u7684\u836f\u7269\u4f34\u968f\u6027\u8bca\u65ad\uff08\u6709\u522b\u4e8e\u4ee5\u5f80\u53ea\u9488\u5bf9\u7279\u5b9a\u836f\u7269\u7684\u4f34\u968f\u8bca\u65ad\uff09\u3002<\/div>\n
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\u00a0<\/div>\n
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\u56de\u5230\u80bf\u7624\u6cbb\u7597\u4e2d\uff0c\u5c3d\u7ba1\u57fa\u56e0\u7ec4\u4fe1\u606f\u6307\u5bfc\u7684\u80bf\u7624\u4e2a\u4f53\u5316\u8bca\u7597\u5f97\u5230\u4e86\u5e7f\u6cdb\u5173\u6ce8\uff0c\u4f46\u603b\u4f53\u6548\u679c\u5c1a\u4e0d\u5c3d\u5982\u4eba\u610f\u3002\u8fd9\u662f\u56e0\u4e3a\u6bcf\u4e2a\u4eba\u5bf9\u836f\u7269\u7684\u53cd\u5e94\u6027\u662f\u4e0d\u540c\u7684\uff0c\u9700\u8981\u4e2a\u4f53\u5316\u8bca\u7597\u3002\u6b64\u5916\uff0c\u80bf\u7624\u7ec6\u80de\u5b58\u5728\u5f02\u8d28\u6027\uff0c\u4ece\u6d3b\u68c0\u6807\u672c\u83b7\u5f97\u7684\u4e00\u5c0f\u90e8\u5206\u80bf\u7624\u7ec6\u80de\uff0c\u5e76\u4e0d\u80fd\u51c6\u786e\u53cd\u6620\u51fa\u75c5\u7076\u5168\u8c8c\uff0c\u836f\u7269\u53ef\u80fd\u4ec5\u5bf9\u90e8\u5206\u80bf\u7624\u7ec6\u80de\u6709\u6548\u800c\u5bfc\u81f4\u590d\u53d1\u3002\u6b64\u65f6\u5355\u7ec6\u80de\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u6280\u672f\u5c06\u6709\u7528\u6b66\u4e4b\u5730\u3002\u6b64\u5916\uff0c\u9057\u4f20\u6539\u53d8\u968f\u65f6\u95f4\u53d1\u751f\u52a8\u6001\u53d8\u5316\uff0c\u9700\u8981\u591a\u6b21\u68c0\u6d4b\u3002<\/div>\n
\u00a0<\/div>\n
\u901a\u8fc7\u5916\u5468\u8840\u5faa\u73af\u80bf\u7624DNA\u6d4b\u5e8f\uff08ctDNA\uff09\u8fdb\u884c\u80bf\u7624\u7684\u201c\u6db2\u4f53\u6d3b\u68c0\u201d\uff0c\u4f7f\u5f97\u6807\u672c\u91c7\u96c6\u66f4\u52a0\u5b89\u5168\u4fbf\u6377\uff0c\u4e00\u51fa\u73b0\u4fbf\u5f15\u53d1\u7814\u7a76\u70ed\u6f6e\u3002\u76ee\u524d\u5df2\u7ecf\u6709\u4e0d\u5c11\u7814\u7a76\u663e\u793actDNA\u5728\u75c5\u60c5\u76d1\u6d4b\u3001\u9884\u6d4b\u6cbb\u7597\u53cd\u5e94\u6027\u4e2d\u5177\u6709\u91cd\u8981\u4ef7\u503c\uff0c\u5728\u67d0\u4e9b\u7c7b\u578b\u7684\u665a\u671f\u764c\u75c7\u4e2d\u4e5f\u6709\u8f83\u597d\u7684\u4e34\u5e8a\u6548\u679c\u4e0e\u5b9e\u7528\u6027\u3002\u4e0d\u8fc7\uff0cctDNA\u4e34\u5e8a\u5e94\u7528\u8fd8\u6709\u5176\u4ed6\u4e00\u4e9b\u95ee\u9898\u5c1a\u672a\u89e3\u51b3\uff0c\u4f8b\u5982\u5b58\u5728ctDNA\u548c\u80bf\u7624\u7ec4\u7ec7\u6807\u672c\u6570\u636e\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u60c5\u51b5\uff0c\u56e0\u6b64\u6db2\u4f53\u6d3b\u68c0\u7ed3\u679c\u8fd8\u9700\u8981\u4e0e\u80bf\u7624\u7ec4\u7ec7\u57fa\u56e0\u6570\u636e\u8fdb\u884c\u5bf9\u6bd4\u786e\u8ba4\u3002\u5728\u5e38\u89c4\u6027\u80bf\u7624\u65e9\u7b5b\u3001\u65e9\u671f\u80bf\u7624\u7597\u6548\u76d1\u6d4b\u6216\u8005\u6b8b\u7559\u68c0\u6d4b\u4e2d\u7684\u4ef7\u503c\uff0c\u5c1a\u7f3a\u4e4f\u8db3\u591f\u7684\u8bc1\u636e12\u3002\u603b\u4f53\u4e0a\u6765\u8bf4\uff0cctDNA\u4e34\u5e8a\u5e94\u7528\u8fd8\u5904\u5728\u6570\u636e\u79ef\u7d2f\u548c\u63a2\u7d22\u9636\u6bb5\u3002<\/div>\n
\u00a0<\/div>\n
\u7b14\u8005\u5341\u5206\u671f\u5f85\u4e00\u4e9b\u5927\u578b\u57fa\u7840\u6027\u7814\u7a76\u7684\u6210\u679c\u3002\u4eceIllumina \u5265\u79bb\u51fa\u6765\u7684Grail\u4e13\u6ce8\u4e8e\u80bf\u7624\u7684\u8840\u6db2\u68c0\u6d4b\uff0c\u4ed6\u4eec\u57282016\u5e748\u6708\u4efd\u542f\u52a8\u4e86\u201c\u5faa\u73af\u6e38\u79bb\u57fa\u56e0\u7ec4\u56fe\u8c31\u7814\u7a76\u201d\uff08Circulating Cell-free Genome Atlas\uff0cCCGA\uff09\uff0c\u8fd9\u662f\u4e00\u9879\u5927\u89c4\u6a21\uff0c\u524d\u77bb\u6027\u3001\u89c2\u5bdf\u6027\u7684\u4e34\u5e8a\u8bd5\u9a8c\uff0c\u8ba1\u5212\u7eb3\u5165\u8d85\u8fc715000\u4f8b\u53d7\u8bd5\u8005\u5e76\u8ffd\u8e2a\u4e94\u5e7413\uff0c14\u3002\u7814\u7a76\u5c06\u4f7f\u7528\u6df1\u5ea6\u6d4b\u5e8f\u7b56\u7565\u5bf9\u53d7\u8bd5\u8005\u8840\u6db2\u6837\u672c\u68c0\u6d4b\uff0c\u5206\u6790\u5176\u6e38\u79bbDNA\u7684\u8868\u8fbe\u6a21\u5f0f\u548c\u6c34\u5e73\u53d8\u5316\uff0c\u4ece\u800c\u4f7f\u5176\u80fd\u591f\u66f4\u597d\u7684\u89c4\u5212\u8bbe\u8ba1\u8d77NGS\u80bf\u7624\u65e9\u671f\u68c0\u6d4b\u4ea7\u54c1\u3002<\/div>\n
\u00a0<\/div>\n
\u9664\u4e86ctDNA\uff0c\u5176\u4ed6\u6807\u5fd7\u7269\u5982\u8840\u6d46DNA\u7532\u57fa\u5316\u4e5f\u53ef\u4ee5\u4f5c\u4e3a\u80bf\u7624\u65e0\u521b\u6027\u68c0\u6d4b\u7684\u6807\u5fd7\u7269\u7528\u30022016\u5e74\uff0cFDA\u6279\u51c6\u7684EpiproColon\u5c31\u662f\u901a\u8fc7\u68c0\u6d4b\u8840\u6db2\u6807\u672c\u4e2dSeptin9\u57fa\u56e0\u7684\u7532\u57fa\u5316\uff0c\u6765\u7b5b\u67e5\u7ed3\u76f4\u80a0\u764c15\u3002\u5faa\u73af\u8840\u6db2\u4e2dmiRNA\u4e5f\u53ef\u4f5c\u4e3a\u80bf\u7624\u7b5b\u68c0\u7684\u6807\u5fd7\u7269\u3002<\/div>\n
\u5728\u80bf\u7624\u6cbb\u7597\u65b9\u9762\uff0c\u80bf\u7624\u514d\u75ab\u6cbb\u7597\u662f\u76ee\u524d\u6700\u5177\u6709\u524d\u666f\u7684\u65b9\u5411\u4e4b\u4e00\u3002\u7a0b\u5e8f\u6027\u6b7b\u4ea1\u5206\u5b501\uff08PD-1\uff09\u53ca\u5176\u914d\u4f53\uff08PDL1\uff09\u4e3a\u4ee3\u8868\u7684\u514d\u75ab\u68c0\u67e5\u70b9\u4e3a\u80bf\u7624\u6cbb\u7597\u63d0\u4f9b\u4e86\u65b0\u601d\u8def\u3002\u7b2c\u4e00\u4e2aPD-1\u6297\u80bf\u7624\u836fKeytruda\uff08\u6d3e\u59c6\u5355\u6297\uff09\u4e8e2014\u5e749\u6708\u83b7FDA\u6279\u51c6\u4e0a\u5e02\u3002\u4ee5\u5f80\u6297\u80bf\u7624\u836f\u90fd\u662f\u6307\u5b9a\u4e0d\u540c\u7ec4\u7ec7\u6765\u6e90\u7684\u80bf\u7624\u7c7b\u578b\uff0c\u8fd9\u6b21\u5219\u6839\u636e\u57fa\u56e0\u7a81\u53d8\u7c7b\u578b\u5373\u5206\u5b50\u7279\u5f81\u6765\u533a\u5206\u80bf\u7624\u7c7b\u578b\u3002\u8fd9\u4e00\u836f\u7269\u610f\u5473\u7740\u80bf\u7624\u6cbb\u7597\u8fdb\u5165\u201c\u5f02\u75c5\u540c\u6cbb\u201d\u7684\u65b0\u9636\u6bb5\uff0c\u5341\u591a\u79cd\u80bf\u7624\u7c7b\u578b\u7684\u60a3\u8005\u90fd\u6709\u671b\u4ece\u8fd9\u4e00\u836f\u7269\u4e2d\u83b7\u76ca\uff0c\u8fd9\u662f\u57fa\u56e0\u7ec4\u533b\u5b66\u7684\u91cd\u5927\u8fdb\u6b65\u3002\u7ee7\u4e24\u4e2a\u540c\u7c7b\u8fdb\u53e3PD-1\u5236\u5242\uff08\u9664Keytruda \u5916\uff0c\u8fd8\u6709Opdivo\uff09\u5728\u4e2d\u56fd\u83b7\u6279\u4e0a\u5e02\u540e\uff0c\u6211\u56fd\u9996\u4e2a\u56fd\u4ea7PD-1\u5355\u6297\uff08\u7279\u745e\u666e\u5229\u5355\u6297\uff0c\u541b\u5b9e\u751f\u7269\uff0c\u7528\u4e8e\u9ed1\u8272\u7d20\u7624\uff09\u5728\u4e0a\u4e2a\u6708\u83b7\u6279\u4e0a\u5e02\u3002\u968f\u540e\uff0c\u6cbb\u7597\u970d\u5947\u91d1\u6dcb\u5df4\u7624\u7684\u9996\u4e2a\u56fd\u4ea7PD-1\u6297\u4f53\u836f\u7269\u4fe1\u8fea\u5229\u5355\u6297\u4e5f\u83b7\u6279\u4e0a\u5e02\u3002<\/div>\n
\u4e0e\u80bf\u7624\u514d\u75ab\u6cbb\u7597\u7597\u6548\u76f8\u5173\u7684\u6807\u5fd7\u7269\u5305\u62ec\u80bf\u7624\u7a81\u53d8\u8d1f\u8377\uff08TMB\uff09\u4e0e\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\uff08MSI\uff0916\uff0c17\uff0c\u8fd9\u4e24\u7c7b\u57fa\u56e0\u7ec4\u7279\u5f81\u53ef\u4ee5\u901a\u8fc7\u57fa\u56e0\u6d4b\u5e8f\u6765\u9274\u5b9a\uff0c\u56e0\u6b64\u4e5f\u4e3a\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u63d0\u4f9b\u4e86\u4e00\u4e2a\u65b0\u5e94\u7528\u65b9\u5411\u3002<\/div>\n
\u00a0<\/div>\n
\u00a03\u00a0\u00a0\u00a0\u5fae\u751f\u7269\u4e0e\u75be\u75c5\u548c\u5065\u5eb7\u2014\u75c5\u539f\u57fa\u56e0\u7ec4\u3001\u5b8f\u57fa\u56e0\u7ec4<\/div>\n
\u8fd1\u5e74\u6765\uff0c\u4ece\u6d41\u611f\u3001\u5be8\u5361\u3001\u57c3\u535a\u62c9\uff0cHPV\u3001\u80a0\u9053\u5fae\u751f\u7269\u3001\u7caa\u83cc\u79fb\u690d\u3001\u5230\u6297\u751f\u7d20\u6ee5\u7528\uff0c\u8d8a\u6765\u8d8a\u591a\u75be\u75c5\u4e0e\u5065\u5eb7\u95ee\u9898\u90fd\u6709\u5fae\u751f\u7269\u6709\u5173\u3002\u5fae\u751f\u7269\u65e0\u5904\u4e0d\u5728\uff0c\u6211\u4eec\u7684\u4f53\u8868\u3001\u53e3\u8154\u3001\u80a0\u9053\u7b49\u5904\u5747\u6709\u5927\u91cf\u5fae\u751f\u7269\u3002\u6211\u4eec\u5b9e\u9645\u4e0a\u662f\u751f\u6d3b\u5728\u5b83\u4eec\u7684\u4e16\u754c\u4e2d18\u3002<\/div>\n
\u00a0<\/div>\n
\u5bf9\u4e8e\u5fae\u751f\u7269\u5f15\u8d77\u7684\u611f\u67d3\u6027\u75be\u75c5\uff0c\u660e\u786e\u81f4\u75c5\u5fae\u751f\u7269\u75c5\u539f\u4f53\uff0c\u662f\u75be\u75c5\u7cbe\u51c6\u9632\u6cbb\u7684\u524d\u63d0\u6761\u4ef6\u3002\u75c5\u539f\u5fae\u751f\u7269\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u9010\u6e10\u6210\u4e3a\u4e34\u5e8a\u5fae\u751f\u7269\u9886\u57df\u7684\u91cd\u8981\u5de5\u5177\u4e0e\u624b\u6bb5\uff0c\u5176\u5e94\u7528\u5305\u62ec\uff1a\u75c5\u539f\u4f53\u5feb\u901f\u9274\u5b9a\uff08\u7279\u522b\u662f\u5bf9\u672a\u77e5\u6216\u8005\u65e0\u6cd5\u57f9\u517b\u7684\u75c5\u539f\uff09\uff1b\u901a\u8fc7\u75c5\u539f\u4f53\u57fa\u56e0\u7ec4\u53d8\u5f02\uff0c\u7814\u7a76\u75c5\u539f\u4f53\u968f\u65f6\u95f4\u7684\u53d8\u5f02\u60c5\u51b5\uff0c\u6709\u52a9\u4e8e\u75ab\u60c5\u8d77\u6e90\u8ffd\u8e2a\u4e0e\u75ab\u60c5\u76d1\u6d4b\uff1b\u4ee5\u53ca\u7814\u7a76\u75c5\u539f\u4f53\u7684\u8010\u836f\u60c5\u51b5\u3001\u6bd2\u529b\u56e0\u5b50\u3001\u4e0e\u5bbf\u4e3b\u7684\u76f8\u4e92\u4f5c\u7528\u7b49\uff0c\u8f85\u52a9\u75be\u75c5\u6cbb\u7597\u4e0e\u9632\u63a7\u3002\u75c5\u539f\u5fae\u751f\u7269\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4e3b\u8981\u5305\u62ec\u4ee5\u4e0b\u51e0\u79cd\u6280\u672f\u7b56\u7565\uff0c\u5305\u62ec\u57fa\u4e8e\u5b8f\u57fa\u56e0\u7ec4\u5b66\u7684\u6d4b\u5e8f\u3001PCR\u6269\u589e\u540e\u6d4b\u5e8f\uff0c\u4ee5\u53ca\u76ee\u6807DNA\u533a\u57df\u6355\u83b7\u5e76\u6d4b\u5e8f\u3002<\/div>\n
\u5bf9\u4e8e\u75c5\u539f\u9274\u5b9a\uff0c\u65f6\u6548\u6027\u81f3\u5173\u91cd\u8981\u3002\u968f\u7740\u6d4b\u5e8f\u6280\u672f\u53d1\u5c55\uff0c\u68c0\u6d4b\u5468\u671f\u5c06\u8fdb\u4e00\u6b65\u7f29\u77ed\u81f3\u4e00\u5929\u751a\u81f3\u66f4\u77ed\uff0c\u4ef7\u683c\u4e5f\u4f1a\u8fdb\u4e00\u6b65\u4e0b\u964d\uff0c\u65e0\u7591\u5728\u4e34\u5e8a\u75c5\u539f\u4f53\u9274\u5b9a\u4e0e\u8bca\u65ad\u3001\u4f20\u67d3\u75c5\u75ab\u60c5\u9632\u63a7\u65b9\u9762\u90fd\u5c06\u6709\u66f4\u591a\u5e94\u7528\u3002<\/div>\n
\u00a0<\/div>\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
\u8ba4\u77e5\u8fd9\u4e9b\u5fae\u751f\u7269\u7684\u7b2c\u4e00\u6b65\uff0c\u662f\u8981\u77e5\u9053\u5b83\u4eec\u7684\u5b58\u5728\u3002\u5b8f\u57fa\u56e0\u7ec4\u5b66\u6d4b\u5e8f\u662f\u662f\u7ee7\u663e\u5fae\u955c\u540e\uff0c\u7814\u7a76\u5fae\u751f\u7269\u7684\u53e6\u4e00\u5de5\u5177\u3002\u5c24\u5176\u662f\u5bf9\u76ee\u524d\u65e0\u6cd5\u5206\u79bb\u3001\u57f9\u517b\u7684\u672a\u77e5\u5fae\u751f\u7269\u3002\u5b9e\u9645\u4e0a\uff0c\u76ee\u524d\u4eba\u7c7b\u8ba4\u77e5\u7684\u5fae\u751f\u7269\u53ea\u662f\u5fae\u751f\u7269\u4e16\u754c\u6781\u5c0f\u7684\u4e00\u90e8\u5206\u3002\u4f8b\u5982\uff0c\u76ee\u524d\u5728\u4eba\u7c7b\u4e2d\u4f20\u64ad\u7684263\u79cd\u5df2\u77e5\u75c5\u6bd2\u53ea\u5360\u6240\u6709\u6f5c\u5728\u611f\u67d3\u6027\u75c5\u6bd2\u76840.1%\u30022018\u5e74\u542f\u52a8\u7684\u5168\u7403\u75c5\u6bd2\u7ec4\u9879\u76ee\uff08Global Virome Project\uff09\u5c31\u662f\u8981\u7f29\u5c0f\u8fd9\u4e00\u5dee\u8ddd20\uff0c\u4ee5\u4fbf\u6211\u4eec\u80fd\u591f\u5728\u672a\u676510\u5e74\u5185\u8bc6\u522b70%\u7684\u6f5c\u5728\u75c5\u6bd2\u5a01\u80c1\u3002\u5b8f\u57fa\u56e0\u7ec4\u5b66\u6d4b\u5e8f\u662f\u8be5\u9879\u76ee\u7684\u91cd\u8981\u68c0\u6d4b\u624b\u6bb5\uff0c\u8fd9\u4e9b\u57fa\u4e8eWGS\u6240\u4ea7\u751f\u7684\u4fe1\u606f\uff0c\u8fd8\u5c06\u6709\u52a9\u4e8e\u75ab\u82d7\u7814\u5236\uff0c\u5e76\u80fd\u5bf9\u9632\u75ab\u6709\u6548\u6027\u8fdb\u884c\u76d1\u6d4b\u3002<\/div>\n
\u603b\u4e4b\uff0c\u75c5\u539f\u57fa\u56e0\u7ec4\u3001\u5fae\u751f\u7269\u7ec4\u662f\u7cbe\u51c6\u533b\u5b66\u7684\u91cd\u8981\u5185\u5bb9\u3002\u4e00\u4e9b\u5927\u578b\u7814\u7a76\u5982\u5df2\u7ecf\u7ed3\u675f\u7684NIH\u4eba\u7c7b\u5fae\u751f\u7269\u7ec4\u8ba1\u5212\uff0c\u5c06\u4e3a\u540e\u7eed\u79d1\u7814\u4e0e\u533b\u5b66\u8f6c\u5316\u5960\u5b9a\u57fa\u7840\uff0c\u670d\u52a1\u4e8e\u75be\u75c5\/\u5065\u5eb7\u673a\u5236\u7814\u7a76\u3001\u836f\u7269\u7814\u53d1\u3001\u4e2a\u4f53\u5316\u8bca\u7597\u7b49\u533b\u5b66\u5b9e\u8df5\u3002<\/div>\n
\u00a0<\/div>\n
\u4e8c\u3001\u57fa\u56e0\u7ec4\u533b\u5b66\u7684\u8d8b\u52bf\/\u6311\u6218<\/div>\n
\u79d1\u5b66\u548c\u6280\u672f\u8fdb\u6b65\u6b63\u9a71\u52a8\u533b\u5b66\u53d8\u9769\uff0c\u63d0\u5347\u6211\u4eec\u5bf9\u75be\u75c5\u51c6\u786e\u8bca\u65ad\u4e0e\u6cbb\u7597\u80fd\u529b\u3002\u9762\u5411\u7cbe\u51c6\u533b\u5b66\u7684\u5927\u578b\u57fa\u56e0\u7ec4\u8ba1\u5212\u4e5f\u6b63\u5728\u5feb\u901f\u63a8\u8fdb\uff08\u8fd1\u671f\u82f1\u56fd\u653f\u5e9c\u5ba3\u5e03\u517610\u4e07\u57fa\u56e0\u7ec4\u8ba1\u5212\u5df2\u7ecf\u5b8c\u6210\u4e86\u5168\u90e8\u6d4b\u5e8f\u5de5\u4f5c21\uff09\uff0c\u6210\u679c\u503c\u5f97\u671f\u5f85\u3002\u5c55\u671b\u672a\u6765\uff0c\u6211\u4eec\u5df2\u7ecf\u53ef\u4ee5\u770b\u5230\u51fa\u57fa\u56e0\u7ec4\u533b\u5b66\u7684\u51e0\u4e2a\u65b0\u8d8b\u52bf\uff0c\u540c\u65f6\u4e5f\u662f\u65b0\u6311\u6218\u3002<\/div>\n
\u00a0<\/div>\n
\u00a01\u00a0\u00a0\u00a0\u201c\u57fa\u56e0+\u201d\u4e0e\u201c+\u57fa\u56e0\u201d\uff1a\u4e0d\u540c\u7ec4\u5b66\u7684\u878d\u5408\u4e0e\u8d2f\u7a7f\uff0c\u8fde\u63a5\u57fa\u56e0\u578b\u4e0e\u8868\u73b0\u578b<\/div>\n
\u5206\u5b50\u751f\u7269\u5b66\u4e2d\u5fc3\u6cd5\u5219\u4e2d\uff0c\u4eceDNA\u5230RNA\u5230\u86cb\u767d\u8d28\u7684\u6240\u6709\u73af\u8282\u90fd\u53ef\u4ee5\u7528\u7ec4\u5b66\u624b\u6bb5\u53bb\u7814\u7a76\uff0c\u5305\u62ec\u57fa\u56e0\u7ec4\u5b66\u3001\u8868\u89c2\u7ec4\u5b66\u3001\u8f6c\u5f55\u7ec4\u5b66\u3001\u86cb\u767d\u8d28\u7ec4\u5b66\u7b49\uff0c\u6b64\u5916\u4e5f\u884d\u751f\u51fa\u4e00\u4e9b\u57fa\u4e8e\u57fa\u56e0\u7ec4\u5b66\u6982\u5ff5\u4e0e\u6280\u672f\u7684\u65b0\u5b66\u79d1\uff0c\u6bd4\u5982\u5b8f\u57fa\u56e0\u7ec4\u5b66\uff08\u5176\u5b9e\uff0c\u751f\u547d\u79d1\u5b66\u53ca\u6240\u6709\u5b66\u79d1\u90fd\u201c\u7ec4\u5b66\u201d\u5316\u4e8622\uff09\u3002\u4ece\u9057\u4f20\u5b66\u89d2\u5ea6\uff0c\u4eba\u7c7b\u6240\u6709\u75be\u75c5\u8bca\u65ad\u548c\u4e34\u5e8a\u4fe1\u606f\u90fd\u5c5e\u4e8e\u8868\u73b0\u578b\u7684\u8303\u7574\uff0c\u6240\u6709\u7ec4\u5b66\u90fd\u53ef\u4ee5\u5f52\u7ed3\u4e3a\u57fa\u56e0\u7ec4\u548c\u8868\u578b\u7ec4\u3002\u4f5c\u4e3a\u9057\u4f20\u5b66\u5ef6\u7eed\u548c\u53d1\u5c55\u7684\u57fa\u56e0\u7ec4\u5b66\uff0c\u5176\u5b66\u79d1\u7cbe\u9ad3\u4f9d\u7136\u662f\u7814\u7a76\u751f\u547d\u7684\u9057\u4f20\u548c\u53d8\u5f02\uff0c\u8fde\u63a5\u57fa\u56e0\u578b\u4e0e\u8868\u73b0\u578b23\u3002<\/div>\n
\u00a0<\/div>\n
\u901a\u4fd7\u7684\u8bf4\uff0c\u9664\u4e86\u57fa\u56e0\u7ec4\uff0c\u6211\u4eec\u8fd8\u9700\u8981\u66f4\u591a\u7684\u4fe1\u606f\u6765\u8ba4\u77e5\u75be\u75c5\u4e0e\u5065\u5eb7\uff0c\u8fd9\u4e9b\u4fe1\u606f\u5305\u62ec\u4e34\u5e8a\u6570\u636e\u5982\u75c5\u53f2\u3001\u75c7\u72b6\u4e0e\u4f53\u5f81\u3001\u751f\u7406\u751f\u5316\u3001\u75c5\u7406\u3001\u5f71\u50cf\u8d44\u6599\u7b49\uff0c\u6b64\u5916\u8fd8\u6709\u751f\u6d3b\u65b9\u5f0f\u3001\u73af\u5883\u7b49\u6570\u636e\u3002\u4e00\u4e9b\u75be\u75c5\u7684\u8bca\u65ad\u4ee5\u57fa\u56e0\u4e3a\u4e3b\uff0c\u4f46\u4e5f\u79bb\u4e0d\u5f00\u5176\u4ed6\u4fe1\u606f\uff0c\u8fd9\u5c31\u662f\u201c\u57fa\u56e0+\u201d\uff1b\u800c\u53e6\u5916\u4e00\u4e9b\u75be\u75c5\u5219\u4ee5\u4e34\u5e8a\u7b49\u4fe1\u606f\u4e3a\u4e3b\uff0c\u57fa\u56e0\u4e3a\u8f85\uff0c\u8fd9\u5c31\u662f\u201c+\u57fa\u56e0\u201d\u3002<\/div>\n
\u00a0<\/div>\n
\u65e0\u8bba\u201c\u57fa\u56e0+\u201d\u8fd8\u662f\u201c+\u57fa\u56e0\u201d\uff0c\u90fd\u8981\u5c06\u57fa\u56e0\u578b\u4e0e\u8868\u73b0\u578b\u76f8\u5173\u8054\uff0c\u8fd9\u662f\u76ee\u524d\u57fa\u56e0\u7ec4\u533b\u5b66\u6700\u4e3a\u57fa\u7840\u3001\u7e41\u7410\u4f46\u4e5f\u662f\u91cd\u8981\u7684\u5de5\u4f5c\u4e4b\u4e00\u3002\u76ee\u524dNGS\u5e94\u7528\u4e8e\u9057\u4f20\u75c5\u68c0\u6d4b\uff0c\u5e38\u5e38\u662f\u53d1\u73b0\u4e86\u9057\u4f20\u53d8\u5f02\uff0c\u4f46\u65e0\u6cd5\u548c\u73b0\u6709\u7684\u75be\u75c5\u8868\u73b0\u76f8\u5173\u8054\uff0c\u4e3a\u4e34\u5e8a\u5de5\u4f5c\u5e26\u6765\u6781\u5927\u56f0\u60d1\uff0c\u76f8\u4fe1\u5927\u5bb6\u5df2\u6709\u6240\u4f53\u4f1a\u3002\u901a\u8fc7\u5168\u7403\u5e7f\u6cdb\u7684\u79d1\u7814\u3001\u4e34\u5e8a\u5b9e\u8df5\u5408\u4f5c\u4e0e\u79ef\u7d2f\uff0c\u5c06\u6570\u636e\u8f6c\u5316\u4e3a\u77e5\u8bc6\uff0c\u63d0\u5347\u533b\u5b66\u5b9e\u8df5\uff0c\u5176\u4e2d\u516c\u5171\u6570\u636e\u5e93\u7684\u5efa\u8bbe\u81f3\u5173\u91cd\u8981\u3002\u6b64\u5916\uff0c\u4e34\u5e8a\u672f\u8bed\u7684\u6807\u51c6\u5316\u4e5f\u5f88\u5173\u952e\u3002\u4eba\u7c7b\u8868\u578b\u672f\u8bed\u96c6\uff08Human Phenotype Ontology, HPO\uff09\uff0c\u5c31\u662f\u8981\u63d0\u4f9b\u4eba\u7c7b\u75be\u75c5\u4e2d\u7528\u4e8e\u63cf\u8ff0\u8868\u578b\u5f02\u5e38\u7684\u6807\u51c6\u8bcd\u6c47\u3002\u6807\u51c6\u672f\u8bed\u4e0d\u4ec5\u6709\u52a9\u4e8e\u75c5\u60c5\u63cf\u8ff0\u4e0e\u75be\u75c5\u8bca\u65ad\uff0c\u8fd8\u6709\u52a9\u4e8e\u6211\u4eec\u5bfb\u627e\u75be\u75c5\u57fa\u56e0\u4e0e\u7279\u5b9a\u8868\u578b\u4e4b\u95f4\u7684\u5173\u7cfb\u3002\u6211\u56fd\u5b66\u8005\u5df2\u7ecfHPO\u6570\u636e\u96c6\u7ffb\u8bd1\u6210\u4e86\u4e2d\u6587\uff0c\u4ee5\u65b9\u4fbf\u56fd\u5185\u4f7f\u752824\u3002<\/div>\n
\u00a0<\/div>\n
\u501f\u52a9\u4e8e\u751f\u547d\u79d1\u5b66\u7684\u65b0\u5de5\u5177\uff0c\u6211\u4eec\u53ef\u4ee5\u4ece\u5fae\u89c2\u5206\u5b50\u5230\u5b8f\u89c2\u4e2a\u4f53\uff0c\u4ece\u57fa\u56e0\u7ec4\u5b66DNA\u5206\u5b50\uff0c\u5230\u86cb\u767d\u7ec4\u3001\u4ee3\u8c22\u7ec4\u3001\u5f71\u50cf\u7ec4\uff0c\u4ece\u7ed3\u6784\u5230\u529f\u80fd\uff0c\u5bf9\u751f\u547d\u5168\u8fc7\u7a0b\u5168\u65b9\u4f4d\u548c\u5168\u5468\u671f\u8fdb\u884c\u7cfb\u7edf\u89e3\u8bfb\u3002\u8fd9\u662f\u4e00\u79cd\u66f4\u5927\u573a\u666f\u7684\u6574\u5408\u3002\u6211\u4eec\u5728\u8fd9\u65b9\u9762\u5df2\u7ecf\u505a\u8fc7\u4e0d\u5c11\u52aa\u529b\uff0c\u4f46\u8fd8\u8fdc\u8fdc\u4e0d\u591f\u3002\u53ea\u6709\u8fd9\u4e9b\u4fe1\u606f\u5145\u5206\u6574\u5408\u5e76\u6709\u6548\u4f7f\u7528\uff0c\u624d\u80fd\u53d1\u6325\u5176\u771f\u6b63\u7684\u4ef7\u503c\u3002<\/div>\n
\u00a0<\/div>\n
\u00a02\u00a0\u00a0\u00a0\u9488\u5bf9\u4e2a\u4f53\u7684\u4e34\u5e8a\u8bd5\u9a8c<\/div>\n
\u901a\u8fc7\u7ecf\u5178\u7684\u4e34\u5e8a\u8bd5\u9a8c\uff0c\u6211\u4eec\u901a\u5e38\u53ef\u4ee5\u83b7\u5f97\u7fa4\u4f53\u5e73\u5747\u6c34\u5e73\u7684\u6570\u636e\uff0c\u8fd9\u4e9b\u6570\u636e\u5728\u533b\u5b66\u53d1\u5c55\u4e2d\u8d77\u5230\u4e86\u91cd\u8981\u4f5c\u7528\uff0c\u4f46\u5bf9\u4e8e\u5b9e\u73b0\u533b\u5b66\u4e2a\u4f53\u5316\u3001\u7cbe\u51c6\u7684\u76ee\u6807\u662f\u8fdc\u8fdc\u4e0d\u591f\u7684\u3002\u56e0\u6b64\uff0c\u57fa\u56e0\u7ec4\u533b\u5b66\u7814\u7a76\u4e2d\u51fa\u73b0\u4e86\u4e00\u4e9b\u65b0\u578b\u7684\u4e34\u5e8a\u8bd5\u9a8c\uff0c\u5982\u80bf\u7624\u7814\u7a76\u7684 \u201c\u7bee\u5b50\u8bd5\u9a8c\u201d\u4e0e\u201c\u96e8\u4f1e\u8bd5\u9a8c\u201d \uff08\u524d\u8005\u662f\u5c06\u5177\u6709\u76f8\u540c\u5206\u5b50\u7279\u5f81\u7684\u4e0d\u540c\u80bf\u7624\uff0c\u4f7f\u7528\u540c\u4e00\u836f\u7269\u8fdb\u884c\u6cbb\u7597\u3002\u540e\u8005\u5219\u662f\u5c06\u5177\u6709\u4e0d\u540c\u5206\u5b50\u7279\u5f81\u7684\u540c\u4e00\u80bf\u7624\uff0c\u6839\u636e\u5206\u5b50\u7279\u5f81\u9009\u62e9\u4e0d\u540c\u7684\u836f\u7269\u6765\u8fdb\u884c\u6cbb\u7597\uff09\u3002\u4f46\u5373\u4fbf\u662f\u8fd9\u7c7b\u65b0\u578b\u4e34\u5e8a\u8bd5\u9a8c\uff0c\u5bf9\u4e8e\u4e2a\u4f53\u5dee\u5f02\u590d\u6742\u6027\u7684\u8003\u91cf\uff0c\u4e5f\u4f9d\u7136\u6709\u6240\u4e0d\u8db3\u3002\u6bd4\u5982\uff0c\u9488\u5bf9\u5177\u6709\u67d0\u4e2a\u7a81\u53d8\u7684\u80bf\u7624\u9776\u836f\uff0c\u67d0\u4e9b\u60a3\u8005\u4f1a\u56e0\u4e3a\u4f53\u5185\u51fa\u73b0\u5176\u4ed6\u7a81\u53d8\u800c\u4ea7\u751f\u836f\u7269\u6297\u6027\uff0c\u4ece\u800c\u5e72\u6270\u4e86\u5bf9\u836f\u7269\u7597\u6548\u7684\u8bc4\u4f30\u3002<\/div>\n
\u00a0<\/div>\n
\u73b0\u5728\uff0c\u6211\u4eec\u9700\u8981\u5bf9\u4e2a\u4f53\u5dee\u5f02\u6027\u7ed9\u4e88\u66f4\u591a\u5173\u6ce8\u3002\u9488\u5bf9\u4e2a\u6027\u7684\uff0c\u53d7\u8bd5\u8005\u4e3a\u4e00\u4e2a\u4eba\u7684\u4e34\u5e8a\u8bd5\u9a8c\u5df2\u7ecf\u51fa\u73b0\u5e76\u65e5\u6e10\u91cd\u898125\uff0c26\u3002<\/div>\n
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\u00a0<\/div>\n
\u901a\u4fd7\u7684\u8bf4\uff0c\u53d7\u8bd5\u8005\u4e3a\u4e00\u4e2a\u4eba\u7684\u4e34\u5e8a\u8bd5\u9a8c\uff0c\u6700\u5927\u7684\u597d\u5904\u662f\u4fbf\u4e8e\u6211\u4eec\u81ea\u5df1\u548c\u81ea\u5df1\u8fdb\u884c\u6bd4\u8f83\uff0c\u800c\u4e0d\u662f\u548c\u7fa4\u4f53\u5e73\u5747\u6570\u8fdb\u884c\u6bd4\u8f83\u3002\u56e0\u6b64\uff0c\u4e2a\u4f53\u7684\u57fa\u7840\u6570\u636e\u5c31\u663e\u5f97\u975e\u5e38\u91cd\u8981\u4e86\u3002\u53ea\u6709\u77e5\u9053\u57fa\u7840\u60c5\u51b5\uff0c\u624d\u80fd\u77e5\u9053\u673a\u4f53\u53d1\u751f\u4e86\u54ea\u4e9b\u6539\u53d8\u3002\u8fd9\u4e5f\u662f\u5f88\u591a\u7ec4\u5b66\u57fa\u7ebf\u8ba1\u5212\uff08\u5982\u80bf\u7624\u57fa\u7ebf\uff09\u7684\u4e3b\u8981\u4f9d\u636e\u3002\u57fa\u56e0\u7ec4\u3001\u4ee3\u8c22\u7ec4\u7b49\u7ec4\u5b66\u5de5\u5177\u6210\u672c\u7684\u4e0d\u65ad\u4e0b\u964d\uff0c\u65e0\u7591\u4e3a\u8fd9\u4e9b\u5de5\u4f5c\u7684\u5f00\u5c55\u63d0\u4f9b\u4e86\u66f4\u597d\u7684\u4fdd\u969c\u3002<\/div>\n
\u00a0<\/div>\n
\u00a03\u00a0\u00a0\u00a0\u79d1\u7814\u4e0e\u4e34\u5e8a\u76f8\u4e92\u4fc3\u8fdb\uff0c\u5de5\u5177\u53ca\u5176\u4e34\u5e8a\u51c6\u5165<\/div>\n
\u57fa\u56e0\u7ec4\u6280\u672f\u5df2\u7ecf\u8fdb\u5165\u4e34\u5e8a\u5b9e\u8df5\u3002\u4ee5\u57fa\u56e0\u7ec4\u5e8f\u5217\u4e3a\u4e3b\u8981\u7814\u7a76\u57fa\u7840\u7684\u7cbe\u51c6\u533b\u5b66\u7406\u5ff5\u4e5f\u65e5\u6e10\u63a5\u53d7\u3002\u76ee\u524d\u56fd\u9645\u4e0a\u5f88\u591a\u9762\u5411\u7cbe\u51c6\u533b\u5b66\u7684\u5927\u4eba\u7fa4\u57fa\u56e0\u7ec4\u8ba1\u5212\uff0c\u90fd\u662f\u79d1\u7814\u4e0e\u4e34\u5e8a\u540c\u6b65\u5f00\u5c55\u3002\u8fd9\u662f\u56e0\u4e3a\uff0c\u57fa\u56e0\u6d4b\u5e8f\u4eea\u53ca\u5176\u4ed6\u5de5\u5177\u53ef\u4ee5\u540c\u6b65\u670d\u52a1\u4e8e\u79d1\u7814\u4e0e\u4e34\u5e8a\u3002\u6bd4\u5982\uff1a<\/div>\n
\u57fa\u56e0\u6d4b\u5e8f\u4eea\uff1a\u4e34\u5e8a\u4e0a\u53ef\u7528\u4e8e\u9057\u4f20\u75c5\u7b5b\u67e5\u3001\u8bca\u65ad\uff0c\u5982NIPT\uff1b\u79d1\u7814\u4e0a\u7528\u4e8e\u7814\u7a76\u75be\u75c5\u76f8\u5173\u57fa\u56e0\u53ca\u81f4\u75c5\u673a\u5236\uff1b<\/div>\n
\u4e32\u8054\u8d28\u8c31\u4eea\uff1a\u4e34\u5e8a\u4e0a\u7528\u4e8e\u65b0\u751f\u513f\u9057\u4f20\u4ee3\u8c22\u75c5\u7684\u7b5b\u67e5\uff1b\u79d1\u7814\u4e0a\u7528\u4e8e\u4ee3\u8c22\u7ec4\u5b66\u7814\u7a76<\/div>\n
\u533b\u5b66\u5f71\u50cf\uff1a\u4e34\u5e8a\u4e0a\u75be\u75c5\u8bca\u65ad\u5fc5\u4e0d\u53ef\u5c11\u7684\u5de5\u5177\uff1b\u79d1\u7814\u4e0a\u53ef\u4ee5\u7528\u4e8e\u5f71\u50cf\u7ec4\u5b66\u7814\u7a76\uff0c\u4ece\u533b\u5b66\u5f71\u50cf\u4e2d\u63d0\u53d6\u6d77\u91cf\u5f71\u50cf\u7279\u5f81\u5206\u6790\u6316\u6398\uff0c\u5176\u6210\u679c\u6709\u671b\u8f85\u52a9\u4e34\u5e8a\u8bca\u7597\u3002\u5c06\u5f71\u50cf\u4fe1\u606f\u4e0e\u57fa\u56e0\u4fe1\u606f\u76f8\u7ed3\u5408\uff0c\u53ef\u4ee5\u5f00\u5c55\u5f71\u50cf\u57fa\u56e0\u7ec4\u5b66\u7814\u7a76\uff08Radiogenomics\uff0cImaging genomics\uff0927\u3002<\/div>\n
\u00a0<\/div>\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
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\u4e3b\u8981\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
1. https:\/\/www.genome.gov\/27552451\/what-is-genomic-medicine\/<\/div>\n
2. Siyang Liu, et al. Genomic Analysesfrom Non-invasive Prenatal Testing Reveal Genetic Association, Patterns ofViral Infections, and Chinese Population History, Cell (2018),https:\/doi.org\/10.1016\/j.cell.2018.08.016<\/div>\n
3. Dawkins HJS, et al. Clin Transl Sci.2018 Jan;11(1):11-20. Progress in Rare Diseases Research 2010-2016: An IRDiRCPerspective.<\/div>\n
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8. Ceyhan-Birsoy O, et al. Am J HumGenet. 2019 Jan 3;104(1):76-93. Interpretation of Genomic Sequencing Results inHealthy and Ill Newborns: Results from the BabySeq Project.<\/div>\n
9.https:\/\/www.biorxiv.org\/content\/early\/2018\/01\/30\/255299<\/div>\n
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13. https:\/\/grail.com\/clinical-studies\/<\/div>\n
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18. https:\/\/www.cell.com\/cell\/fulltext\/S0092-8674(18)30233-2<\/div>\n
19. https:\/\/www.sciencealert.com\/australia-first-country-eliminate-cervical-cancer-2028-lancet-study<\/div>\n
20. Carroll D\uff0cet al. Science. 2018 Feb23;359(6378):872-874. The Global Virome Project.<\/div>\n
21.https:\/\/www.gov.uk\/government\/news\/100000-whole-genomes-sequenced-in-the-nhs<\/div>\n
22. Baker M. Nature. 2013 Feb28;494(7438):416-9. Big biology: The ‘omes puzzle.<\/div>\n
23. \u57fa\u56e0\u7ec4\u5b66.\u6768\u7115\u660e.\u5317\u4eac\uff1a\u79d1\u5b66\u51fa\u7248\u793e,2016.10.\u00a0 ISBN: 978-7-03-049902-8<\/div>\n
24.http:\/\/wiki.chinahpo.org\/wiki\/index.php\/CHPO<\/div>\n
25. Chen R\uff0cet al. Cell. 2012 Mar 16;148(6):1293-307.Personal omics profiling reveals dynamic molecular and medical phenotypes.<\/div>\n
26. Schork NJ. Nature. 2015 Apr 30;520(7549):609-11.Personalized medicine: Time for one-person trials.<\/div>\n
27. Rutman AM, et al. Eur J Radiol. 2009May;70(2):232-41. Radiogenomics: creating a link between molecular diagnosticsand diagnostic imaging.<\/div>\n
28. Drmanac R1.Science. 2012 Jun1;336(6085):1110-2. Medicine. The ultimate genetic test.<\/div>\n
29. Drmanac R,et al. Clin Chem. 2015Jan;61(1):305-6.Accurate whole genome sequencing as the ultimate genetic test.<\/div>\n
30. https:\/\/www.genomeweb.com\/regulatory-news\/fda-recognizes-clingen-database-development-clinical-tests#.XDXWGy2tau5<\/div>\n
31.https:\/\/www.fda.gov\/downloads\/MedicalDevices\/DeviceRegulationandGuidance\/GuidanceDocuments\/UCM509837.pdf<\/div>\n
32.https:\/\/www.fda.gov\/downloads\/MedicalDevices\/DeviceRegulationandGuidance\/GuidanceDocuments\/UCM509838.pdf<\/div>\n
33.http:\/\/politics.people.com.cn\/n1\/2017\/0612\/c1001-29332099.html<\/div>\n
\u00a0<\/div>\n
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\u00a0\u7f16\u8005\uff1a\u738b\u5a01\u00a0\u00a0<\/div>\n
\u6821\u5bf9\uff1aCandice\/Eric\u00a0 \u5ba1\u6838\uff1aMark<\/div>\n\n
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