{"id":8847,"date":"2021-10-14T22:42:33","date_gmt":"2021-10-14T14:42:33","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100020910&idx=1&sn=ef7df45c8e282717124e86643b318f21&chksm=6b7160195c06e90fc9ef13fb75a942d8f4eb890fc260bf75158645e61c34a9a5f7d4c983d7a0#rd"},"modified":"2026-04-01T13:24:31","modified_gmt":"2026-04-01T05:24:31","slug":"519850","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2021\/10\/14\/519850\/","title":{"rendered":"\u5206\u5b50\u68c0\u6d4b\u6280\u672f\u5982\u4f55\u8d2f\u7a7f\u80bf\u7624\u5168\u751f\u547d\u5468\u671f\u7ba1\u7406\u4e28\u80bf\u7624\u84dd\u76ae\u4e66\u8fde\u8f7d\u7b2c\u4e94\u7bc7"},"content":{"rendered":"

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\u57fa\u56e0\u6167\u5706\u684c\u8bba\u575b\u53ca\u300a2021\u80bf\u7624\u57fa\u56e0\u53ca\u5206\u5b50\u68c0\u6d4b\u84dd\u76ae\u4e66\u300b\u53d1\u5e03\u4eea\u5f0f\u5c06\u57282021\u5e7411\u670813\u65e5\u4e0a\u5348\u4e8e2021\u4e2d\u56fd\u80bf\u7624\u6807\u5fd7\u7269\u5b66\u672f\u5927\u4f1a<\/a>\u7684ctDNA\u4e0e\u4f34\u968f\u8bca\u65ad\u6807\u5fd7\u7269\u5206\u8bba\u575b\u4e0a\u4e3e\u884c\uff01<\/div>\n
\u300a2022\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\u300b\u73b0\u5df2\u542f\u52a8\u5408\u4f5c\uff0c\u6b22\u8fce\u8054\u7cfb\u57fa\u56e0\u6167\uff08\u5fae\u4fe1\u53f7\uff1ajiyinhui_1\uff09\u8fdb\u884c\u6d3d\u8c08\u3002<\/div>\n
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\u6587\u7ae0 | \u57fa\u56e0\u6167\u7f16\u8f91 | Kathy\u00a0\u5ba1\u6838 | Mary<\/div>\n
\u5173\u952e\u8bcd | \u5206\u5b50\u68c0\u6d4b\u5728\u4e34\u5e8a\u80bf\u7624\u8bca\u7597\u7684\u5e94\u7528<\/div>\n
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\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz5ByU5FhAtlXmhibCo6r3wvtj0sq4ib6tc1STYIYPTRwTnhAPVtY3HnnRA\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz59kMOaibK0wMQoUFz6pibAslrMz7pYXqiaX4ps9XPYGRWvCgokW8y8mdXw\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz5ZC54WIGYQbfY8iavUFUPnMt4aWDu98PVNzYkcWhw6OEcaYSajciaicLibw\"\/<\/figure><\/div>\n\n<\/div>\n
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\n\n
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\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz5b7NVibHJGTHkJ1o0XbXZEFpf0oicQ5rdl03pfSGiaKMg5F6soCaicK92XQ\"\/<\/figure><\/div>\n\n<\/div>\n
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\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz54iaibSMlGSawgLia9MtuGRwlzow9iaq03WMgAzofs2XeMKvRl4ASiczlsyQ\"\/<\/figure><\/div>\n\n<\/div>\n
\u5176\u4e2d\u76f8\u5bf9\u6210\u719f\u7684\u662fctDNA\uff0cctDNA\u76f8\u5bf9\u5bb9\u6613\u83b7\u5f97\uff0c\u68c0\u6d4b\u624b\u6bb5\u4e5f\u66f4\u52a0\u6210\u719f\uff0c\u5e76\u4e14\u00a0ctDNA \u5728\u68c0\u6d4b\u80bf\u7624\u9a71\u52a8\u57fa\u56e0\u7a81\u53d8\uff08\u542b SNV \u548c CNV\uff09\u4ee5\u53ca\u7532\u57fa\u5316\u65b9\u9762\u5177\u6709\u9ad8\u4fe1\u53f7\u4e30\u5ea6\u548c\u9ad8\u4fe1\u53f7\u5f3a\u5ea6\u7b49\u4f18\u52bf\uff0c\u4ece\u800c\u88ab\u8d8a\u6765\u8d8a\u591a\u7684\u7528\u4e8e\u65e9\u7b5b\u68c0\u6d4b\u3002<\/div>\n
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\n
\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz5LWCMyD11ZnuIFrk1lJyCfcltMkN40ric8z8dyyaEe4BKpKRNJL97iapw\"\/<\/figure><\/div>\n\n
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\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz5lqWsQG5EGWGGTOpV9ZwXw5icQnby2laTdZQLy8ApLOE5MDUw8bZpr0A\"\/<\/figure><\/div>\n\n
\n
\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz5RFiaGIJf3ibcy9ubkUJImDHJwSibG8CG62tDsjrwNyz5sGuvbLgUicicyww\"\/<\/figure><\/div>\n\n
\u80bf\u7624\u5206\u5b50\u5206\u578b\u548c\u4f34\u968f\u8bca\u65ad<\/div>\n
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\u5206\u5b50\u5206\u578b\u662f\u901a\u8fc7 NGS \u548c\u5176\u4ed6\u591a\u7ec4\u5b66\u5206\u6790\u6280\u672f\uff0c\u5bf9\u80bf\u7624\u8fdb\u884c\u5206\u5b50\u8c31\uff08Profiling\uff09\u7684\u7cfb\u7edf\u63cf\u7ed8\uff0c\u5e76\u6839\u636e\u5206\u5b50\u7279\u5f81\u8c31\uff08Signature\uff09\u8fdb\u884c\u80bf\u7624\u7684\u7cbe\u51c6\u5206\u7c7b\u53ca\u8bca\u7597\u7814\u7a76\u3002\u4f34\u968f\u8bca\u65ad\u662f\u4f34\u968f\u7740\u6cbb\u7597\u836f\u7269\u800c\u8fdb\u884c\u7684\u8bca\u65ad\u3002<\/div>\n\n
\n
\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz5zYN6Eyib2AznSzQEsTmdcpMO2K1gtGTNndTQDsWTxBud3ugNp39icA2A\"\/<\/figure><\/div>\n\n<\/div>\n
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NGS \u56e0\u5176\u6781\u9ad8\u7684\u6d4b\u5e8f\u901a\u91cf\u7684\u4f18\u52bf\uff0c\u53ef\u540c\u65f6\u8fdb\u884c\u6240\u6709\u5df2\u77e5\u6216\u672a\u77e5\u7684\u80bf\u7624\u6807\u5fd7\u7269\u5e73\u884c\u68c0\u6d4b\uff0c\u4e14\u5bf9\u4f4e\u4e30\u5ea6\u548c\u7f55\u89c1\u7a81\u53d8\u5177\u6709\u66f4\u7075\u654f\u7684\u68c0\u51fa\u80fd\u529b\uff0c\u8fd8\u9002\u7528\u4e8e\u6db2\u4f53\u6d3b\u68c0\u53ca\u75c5\u7a0b\u5168\u5468\u671f\u7ba1\u7406\u7b49\u65b0\u5174\u5e94\u7528\u573a\u666f\u4e2d\uff0c\u662f\u672a\u6765\u7684\u4e3b\u6d41\u53d1\u5c55\u65b9\u5411\u3002\u4ee5 NGS \u4e3a\u4f8b\uff0c\u5176\u5178\u578b\u6280\u672f\u8def\u5f84\u5982\u4e0b\u56fe\u6240\u793a\uff0c\u53ef\u6db5\u76d6\u80bf\u7624\u57fa\u56e0\u7ec4\u3001\u8f6c\u5f55\u7ec4\u548c\u5355\u7ec6\u80de\u6d4b\u5e8f\u3002<\/div>\n
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\n\n
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NGS \u6280\u672f\u7684\u666e\u53ca\u548c\u751f\u7269\u4fe1\u606f\u5b66\u65b9\u6cd5\u7684\u8fdb\u6b65\uff0c\u5927\u5927\u63a8\u52a8\u4e86\u80bf\u7624\u57fa\u56e0\u7ec4\u5b66\u7684\u53d1\u5c55\uff0c\u4e3a\u80bf\u7624\u5206\u5b50\u5206\u578b\u548c\u4f34\u968f\u8bca\u65ad\u5960\u5b9a\u4e86\u624e\u5b9e\u7684\u57fa\u7840\u3002<\/div>\n
2020 \u5e74 8 \u6708\uff0cNature \u53d1\u8868\u4e86\u8fc4\u4eca\u6700\u5168\u9762\u7684\u80bf\u7624\u9a71\u52a8\u57fa\u56e0\u5168\u666f\u56fe\u8c31\uff0c\u901a\u8fc7\u9274\u5b9a\u548c\u7814\u7a76\u8fd9\u4e9b\u80bf\u7624\u57fa\u56e0\uff0c\u7814\u7a76\u4eba\u5458\u53ef\u83b7\u5f97\u66f4\u6df1\u523b\u5730\u5bf9\u8fd9\u4e9b\u57fa\u56e0\u529f\u80fd\u7684\u8ba4\u8bc6\u53ca\u5176\u5728\u4e0d\u540c\u764c\u75c7\u4e2d\u7684\u4e0d\u540c\u7a0b\u5ea6\u7684\u7279\u5f02\u6027\uff0c\u8fd9\u4e9b\u77e5\u8bc6\u5bf9\u80bf\u7624\u5206\u5b50\u5206\u578b\u3001\u4f34\u968f\u8bca\u65ad\u548c\u836f\u7269\u7814\u53d1\u7b49\u5de5\u4f5c\u90fd\u6709\u975e\u5e38\u91cd\u8981\u7684\u610f\u4e49\u3002<\/div>\n\n
\n
\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz5SibtaKmuDh0oXH15udlN8Ya0KO2jcaxVzicic3tGhkNl4sQjJfPMqsT0w\"\/<\/figure><\/div>\n\n
\u4f20\u7edf NGS \u6280\u672f\u96be\u4ee5\u8fdb\u4e00\u6b65\u89e3\u91ca\u8bf8\u5982\u80bf\u7624\u7ec4\u7ec7\u7ec6\u80de\u5f02\u8d28\u6027\u3001\u5fae\u73af\u5883\u548c\u4e92\u4f5c\u673a\u5236\u7b49\u66f4\u4e3a\u590d\u6742\u7684\u79d1\u5b66\u95ee\u9898\uff0c\u5355\u7ec6\u80de\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff08scDNA-Seq\uff09\u5219\u53ef\u6709\u6548\u514b\u670d\u80bf\u7624\u7684\u5f02\u8d28\u6027\uff0c\u901a\u8fc7\u63d0\u5347\u5206\u6790\u7ef4\u5ea6\uff0c\u53ef\u9488\u5bf9\u80bf\u7624\u7ec4\u7ec7\u7a00\u6709\u514b\u9686\u53ca\u5176\u7a81\u53d8\u5c55\u5f00\u201c\u9ad8\u6e05\u201d\u548c\u201c\u9ad8\u654f\u201d\u7684\u4f34\u968f\u8bca\u65ad\u68c0\u6d4b\u3002<\/div>\n\n
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\"RmFicvQBAkgD5ZObNhgPhQkuken86qicz50ib98WsicA9B9lPfMc45ObR9gMTsvibvgIpBYr6zCgs96GTsxfsKyap2A\"\/<\/figure><\/div>\n\n
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