{"id":7973,"date":"2023-05-18T14:00:00","date_gmt":"2023-05-18T06:00:00","guid":{"rendered":"https:\/\/www.geneclub.net.cn\/index.php\/2023\/05\/18\/1025549\/"},"modified":"2026-04-07T16:51:20","modified_gmt":"2026-04-07T08:51:20","slug":"1025549","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2023\/05\/18\/1025549\/","title":{"rendered":"\u65b0\u751f\u513f\u7b5b\u67e5\u9700\u6c42\u5de8\u5927\uff0c\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u8d4b\u80fd\u51fa\u751f\u7f3a\u9677\u4e09\u7ea7\u9632\u63a7"},"content":{"rendered":"<p><!-- wechat_content_hash: f71a938c29885d02 --><\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBJ4sibF985CB53GqXpdUXJY1ibXic4tk7cicKMPtgyMRqWYUopq6yOghicWK3LOe3qL8V3Rjia4kHVKgsA.jpeg\" alt=\"RmFicvQBAkgBJ4sibF985CB53GqXpdUXJY1ibXic4tk7cicKMPtgyMRqWYUopq6yOghicWK3LOe3qL8V3Rjia4kHVKgsA\"\/><\/figure><\/div>\n\n<div>\u591a\u6570\u65b0\u751f\u513f\u9057\u4f20\u6027\u75be\u75c5\u901a\u5e38\u5728\u53d1\u75c53~6\u4e2a\u6708\u540e\u624d\u51fa\u73b0\u4e34\u5e8a\u75c7\u72b6\u3002\u5982\u679c\u80fd\u53ca\u65e9\u8fdb\u884c\u65b0\u751f\u513f\u75be\u75c5\u7b5b\u67e5\uff08\u65b0\u751f\u513f\u7b5b\u67e5\uff09\uff0c\u5c31\u53ef\u4ee5\u907f\u514d\u5a74\u513f\u5728\u5173\u952e\u53d1\u80b2\u9636\u6bb5\u5ef6\u8bef\u6cbb\u7597\u65f6\u673a\u3002\u76f8\u6bd4\u4e32\u8054\u8d28\u8c31\u7b49\u4f20\u7edf\u7684\u751f\u5316\u68c0\u6d4b\u6280\u672f\uff0cNGS\u6d4b\u5e8f\u6280\u672f\u5177\u6709\u589e\u52a0\u7b5b\u67e5\u8303\u56f4\uff0c\u964d\u4f4e\u5047\u9633\u6027\u3001\u5047\u9634\u6027\uff0c\u8bca\u65ad\u65f6\u95f4\u524d\u79fb\u7b49\u4f18\u52bf[1]\u3002\u5bf9\u4e8e\u90e8\u5206\u6709\u65f6\u6548\u6027\u8981\u6c42\u7684\u60c5\u51b5\uff0c\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u68c0\u6d4b\u662f\u8f83\u4f73\u7684\u9009\u62e9\u3002<\/div>\n<div>\u00a0<\/div>\n<div>1\u6211\u56fd\u65b0\u751f\u513f\u75be\u75c5\u7b5b\u67e5\u7684\u5de8\u5927\u9700\u6c42<\/div>\n<div>\u6839\u636e2023\u5e74\u56fd\u5bb6\u7edf\u8ba1\u5c40\u53d1\u5e03\u76842021\u5e74\u300a\u4e2d\u56fd\u513f\u7ae5\u53d1\u5c55\u7eb2\u8981\uff082021\u20142030\u5e74\uff09\u300b\u7edf\u8ba1\u76d1\u6d4b\u62a5\u544a[2]\uff1a<\/div>\n<p>2021\u5e74\uff0c\u5168\u56fd\u65b0\u751f\u513f\u6b7b\u4ea1\u7387\u4e3a3.1\u2030\uff0c\u4e0b\u964d0.3\u4e2a\u5343\u5206\u70b9\uff1b\u5a74\u513f\u6b7b\u4ea1\u7387\u75312020\u5e74\u76845.4\u2030\u4e0b\u964d\u52305\u2030\uff1b5\u5c81\u4ee5\u4e0b\u513f\u7ae5\u6b7b\u4ea1\u7387\u4e3a7.1\u2030\uff0c\u4e0b\u964d0.4\u4e2a\u5343\u5206\u70b9\u3002<\/p>\n<p>2021\u5e74\uff0c\u5168\u56fd\u5a5a\u524d\u533b\u5b66\u68c0\u67e5\u7387\u4e3a70.9%\uff0c\u6bd42020\u5e74\u63d0\u9ad82.5\u4e2a\u767e\u5206\u70b9\uff1b\u4ea7\u524d\u7b5b\u67e5\u7387\u4e3a85.7%\uff0c\u63d0\u9ad84.6\u4e2a\u767e\u5206\u70b9\uff1b\u65b0\u751f\u513f\u8bbf\u89c6\u7387\u4e3a96.2%\uff0c\u63d0\u9ad80.7\u4e2a\u767e\u5206\u70b9\u3002<\/p>\n<p>\u4ece\u6570\u636e\u770b\u51fa\uff0c\u6211\u56fd\u513f\u7ae5\u5065\u5eb7\u6c34\u5e73\u6301\u7eed\u63d0\u9ad8\uff0c\u513f\u7ae5\u6b7b\u4ea1\u7387\u6301\u7eed\u4e0b\u964d\uff0c\u51fa\u751f\u7f3a\u9677\u7efc\u5408\u9632\u6cbb\u4e0d\u65ad\u5f3a\u5316\uff0c\u516c\u4f17\u4f18\u751f\u5065\u5eb7\u610f\u8bc6\u4e0d\u65ad\u63d0\u9ad8\u3002<\/p>\n<p>\u7136\u800c\uff0c\u5f53\u524d\u6211\u56fd\u6bcf\u5e74\u65b0\u589e\u51fa\u751f\u7f3a\u9677\u513f\u7ea680~120\u4e07\uff0c\u51fa\u751f\u7f3a\u9677\u603b\u53d1\u751f\u7387\u7ea6\u4e3a4%~6%\u3002\u513f\u7ae5\u9057\u4f20\u75c5\u60a3\u8005\u6570\u91cf\u8d85\u8fc71000\u4e07\u4eba\uff0c\u6bcf\u5e74\u65b0\u589e\u9057\u4f20\u75c5\u60a3\u513f\u8fd1100\u4e07\u4eba\u3002\u5168\u7403\u5df2\u53d1\u73b0\u7684\u7f55\u89c1\u75c5\u7ea67000\u591a\u79cd\uff0880%\u7684\u7f55\u89c1\u75c5\u7531\u9057\u4f20\u56e0\u7d20\u5bfc\u81f4\u7684\uff09\uff0c\u9488\u5bf9\u8fd9\u4e9b\u9057\u4f20\u75c5\u60a3\u8005\uff0c\u5e73\u5747\u9700\u89815-8\u5e74\u624d\u80fd\u5b9e\u73b0\u786e\u8bca\uff0c\u8bca\u65ad\u6210\u672c\u8d85\u8fc75\u4e07\u5143\uff0c\u4e14\u6709\u6548\u6cbb\u7597\u7387\u4ec5\u67095%\u3002\u65b0\u751f\u513f\u75be\u75c5\u7b5b\u67e5\u5b58\u5728\u8f83\u5927\u7684\u9700\u6c42\u3002<\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB16vJnkrjGNjxS6Rf9qZXdJn5Gq9b01ZER4ibb1iblCLZTtpCgV0cXzUNppcDuKB31uwIMNwx2wSEg.png\" alt=\"RmFicvQBAkgB16vJnkrjGNjxS6Rf9qZXdJn5Gq9b01ZER4ibb1iblCLZTtpCgV0cXzUNppcDuKB31uwIMNwx2wSEg\"\/><\/figure><\/div>\n\n<p style=\"text-align: center;\">\u56fe\uff1a\u65b0\u751f\u513f\u75be\u75c5\u7b5b\u67e5\u6d41\u7a0b\uff08\u6765\u6e90\/\u5b9e\u7528\u65b0\u751f\u513f\u5b66\u7cbe\u8981\uff09<\/p>\n<div>2\u00a0\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f(rWGS)\u7684\u4e34\u5e8a\u5e94\u7528\u8fdb\u5c55<\/div>\n<p>\u4f20\u7edf\u7684\u65b0\u751f\u513f\u7b5b\u67e5\u6280\u672f\u4ee5\u6c28\u57fa\u9178\u7b49\u4ee3\u8c22\u7269\u4f5c\u4e3a\u6807\u5fd7\u7269\uff0c\u901a\u8fc7\u4e32\u8054\u8d28\u8c31\u3001\u6db2\u76f8\u8272\u8c31\u4e32\u8054\u8d28\u8c31\u3001\u6c14\u76f8\u8272\u8c31\u8d28\u8c31\u8054\u7528\u7b49\u6280\u672f\uff0c\u53ef\u4ee5\u5728\u51e0\u5206\u949f\u5185\u5bf9\u4e00\u4e2a\u6837\u672c\u7b5b\u67e540~60\u79cd\u9057\u4f20\u4ee3\u8c22\u75c5\u3002\u4f46\u662f\u4ecd\u5b58\u5728\u5047\u9633\u6027\u3001\u5047\u9634\u6027\u8f83\u9ad8\uff0c\u6613\u6f0f\u8bca\u8bef\u8bca\u7b49\u95ee\u9898\uff0c\u4e14\u65e0\u6cd5\u5b9e\u73b0\u65e9\u671f\u7cbe\u51c6\u5206\u578b[1]\u3002<\/p>\n<p>\u8fd1\u4e9b\u5e74\uff0c\u9ad8\u901a\u91cf\u6d4b\u5e8f\u6280\u672f\uff08NGS\uff09\u9010\u6b65\u6df1\u5165\u5e94\u7528\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\uff0c\u76f8\u6bd4\u4f20\u7edf\u7684\u751f\u5316\u68c0\u6d4b\u6280\u672f\uff0cNGS\u5177\u6709\u589e\u52a0\u7b5b\u67e5\u8303\u56f4\uff0c\u964d\u4f4e\u5047\u9633\u6027\u3001\u5047\u9634\u6027\uff0c\u8bca\u65ad\u65f6\u95f4\u524d\u79fb\u7b49\u660e\u663e\u4f18\u52bf[1]\u3002\u5bf9\u4e8e\u90e8\u5206\u5bf9\u65f6\u6548\u6027\u8981\u6c42\u9ad8\u7684\u60c5\u51b5\uff0c\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u68c0\u6d4b\uff08rapid whole genome sequencing\uff0crWGS\uff09\u662f\u4e00\u4e2a\u8f83\u4f73\u9009\u62e9\u3002<\/p>\n<div>NGS\u6d4b\u5e8f\u6280\u672f\u56e0\u5177\u5907\u5927\u89c4\u6a21\u5e73\u884c\u6d4b\u5e8f\uff0c\u901a\u91cf\u9ad8\uff0c\u5206\u6790\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\u8f83\u9ad8\u7b49\u7279\u70b9\uff0c\u5bf9\u540c\u65f6\u6d89\u53ca\u591a\u4e2a\u57fa\u56e0\u3001\u591a\u79cd\u53d8\u5f02\u7c7b\u578b\u4ee5\u53ca\u7f55\u89c1\u53d8\u5f02\u7684\u51fa\u751f\u7f3a\u9677\u548c\u9057\u4f20\u6027\u75be\u75c5\u7684\u5206\u5b50\u8bca\u65ad\u5177\u6709\u975e\u5e38\u660e\u663e\u7684\u4f18\u52bf[1]\uff0cNGS\u4e0e\u4e32\u8054\u8d28\u8c31\u3001PCR\u7b49\u6280\u672f\u4e00\u8d77\uff0c\u6b63\u6210\u4e3a\u65b0\u751f\u513f\u7b5b\u67e5\u7684\u6838\u5fc3\u6280\u672f\uff0c\u4e14\u5e94\u7528\u6bd4\u4f8b\u5c06\u968f\u7740\u5468\u671f\u3001\u6210\u672c\u8fdb\u4e00\u6b65\u964d\u4f4e\u800c\u63d0\u5347\u3002<\/div>\n<div>NGS\u6280\u672f\u6309\u68c0\u6d4b\u8303\u56f4\u4e0d\u540c\u5206\u4e3a\u75be\u75c5\u9776\u5411\u57fa\u56e0\u9762\u677f\u6d4b\u5e8f(panel)\u3001\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f(WES)\u4ee5\u53ca\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f(WGS)[1]\uff0c\u76f8\u5e94\u7684\u8986\u76d6\u57fa\u56e0\u6570\u76ee\u589e\u52a0\uff0c\u5468\u671f\u548c\u6210\u672c\u5bf9\u5e94\u63d0\u5347\u3002<\/div>\n<p>\u81ea2013\u5e74\u6ce2\u58eb\u987f\u513f\u7ae5\u533b\u9662\uff0c\u5e03\u83b1\u6839\u5987\u5973\u533b\u9662\u4e3b\u5bfc\u7684BabySeq\u9879\u76ee\u5f00\u59cb\uff0c\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\u9879\u76ee\u9010\u6b65\u6269\u5927\u8303\u56f4\u548c\u6df1\u5165\u3002\u68c0\u6d4b\u6280\u672f\u4ecePCR\u9010\u6e10\u53d1\u5c55\u5230WGS\uff0c\u4ee5\u5317\u5361\u4e09\u89d2\u6d32\u56fd\u9645\u7814\u7a76\u9662(RTI International)\u4e3b\u5bfc\u7684Early Check\u4e3a\u4f8b\uff0c2018-2022\u5e74\u56db\u5e74\u95f4\u5df2\u7b5b\u67e52\u4e07\u540dSMA(qPCR)\u3001DMD\u548cFXS(PCR)\uff0c\u73b0\u901a\u8fc7WGS\u6269\u5c55\u81f3200\u79cd\u75c5\u79cd\u3002\u5728\u6211\u56fd\uff0c\u5177\u6709\u4ee3\u8868\u6027\u7684\u662f\u9996\u90fd\u533b\u79d1\u5927\u5b66\u9644\u5c5e\u5317\u4eac\u513f\u7ae5\u533b\u9662\u502a\u946b\u6559\u6388\u9886\u8854\u7684\u201c\u65b0\u5de2\u8ba1\u5212\u201d\uff0c2018\u5e74\u8bd5\u70b9\uff0c\u622a\u6b622022\u5e742\u6708\u5df2\u5b8c\u6210\u7b5b\u67e51\u4e07\u4f59\u4f8b\uff1b\u6b64\u5916\uff0c\u4e0a\u6d77\u5e02\u513f\u79d1\u533b\u5b66\u7814\u7a76\u6240\u97e9\u8fde\u4e66\u6559\u6388\u4e3b\u5bfc\u7684\u4e2d\u56fd\u591a\u4e2d\u5fc3\u65b0\u751f\u513f\u9057\u4f20\u75c5\u57fa\u56e0\u7b5b\u67e5\u7814\u7a76\u9879\u76ee\uff0c\u9488\u5bf9156\u79cd\u5e38\u89c1\u75be\u75c5\u3001159\u4e2a\u76f8\u5173\u57fa\u56e0 \uff0c2022\u5e748\u6708\u5df2\u5b8c\u6210\u5bf93\u4e07\u4f8b\u65b0\u751f\u513f\u7b5b\u67e5\uff0c\u6574\u4f53\u9633\u6027\u7387\u4e3a4.0%\u3002<\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAYEnrZibLMWz13xHeI26wcibBtXFkknlwibicnM6CepMm5cMAOdVlmIuXiageEXFWpFcpYu6GNpb8rqag.png\" alt=\"RmFicvQBAkgAYEnrZibLMWz13xHeI26wcibBtXFkknlwibicnM6CepMm5cMAOdVlmIuXiageEXFWpFcpYu6GNpb8rqag\"\/><\/figure><\/div>\n\n<\/p>\n<p>\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgAYEnrZibLMWz13xHeI26wcibajGnyhbvLlk8r16te1uaJESy5WTulkwG3VZLrFP6yqBkXECavRxamA\/0?wx_fmt=png\" alt=\"0?wx_fmt=png\"\/><\/figure>\n\n\n<p style=\"text-align: center;\">\u56fe\uff1a\u4ee3\u8868\u6027\u7684\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\u9879\u76ee\uff08\u6765\u6e90\/\u57fa\u56e0\u6167\u6574\u7406\uff09<\/p>\n<p>\u7531\u4e8e\u90e8\u5206\u5e94\u7528\u573a\u666f\uff08\u4f8b\u5982ICU\u7b49\u5371\u91cd\u75c7\u60c5\u51b5\uff09\u5bf9\u65f6\u6548\u6027\u8981\u6c42\u9ad8\uff0c\u4ee5\u53ca\u4e34\u5e8a\u63a8\u5e7f\u5bf9\u6210\u672c\u7684\u654f\u611f\u6027\uff0c\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u68c0\u6d4b\uff08rWGS\uff09\u5e94\u8fd0\u800c\u751f\u3002<\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB16vJnkrjGNjxS6Rf9qZXdqY5M2HMtEumtcgxBg88J2mkOSk3zTu5bphSJOG0RX8NNTuZ6GwOGnA.png\" alt=\"RmFicvQBAkgB16vJnkrjGNjxS6Rf9qZXdqY5M2HMtEumtcgxBg88J2mkOSk3zTu5bphSJOG0RX8NNTuZ6GwOGnA\"\/><\/figure><\/div>\n\n<p style=\"text-align: center;\">\u56fe\uff1a\u5feb\u901f WGS \u4e34\u5e8a\u548c\u5b9e\u9a8c\u5ba4\u5b9e\u65bd\u6d41\u7a0b<\/p>\n<p style=\"text-align: center;\">\uff08\u6765\u6e90\/\u300a\u5371\u91cd\u65b0\u751f\u513f\u9057\u4f20\u6027\u75be\u75c5\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4e13\u5bb6\u5171\u8bc6\u300b\uff09<\/p>\n<div>2020\u5e74\uff0c\u6211\u56fd\u5371\u91cd\u75c7\u4e13\u5bb6\u5de5\u4f5c\u7ec4\u5236\u5b9a\u4e86\u300a\u5371\u91cd\u65b0\u751f\u513f\u9057\u4f20\u6027\u75be\u75c5\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4e13\u5bb6\u5171\u8bc6\u300b[4]\uff0c\u5171\u8bc6\u660e\u786e\u6307\u51fa\uff1a\u4e25\u683c\u3001\u89c4\u8303\u7684\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u80fd\u591f\u5feb\u901f\u3001\u4f4e\u6210\u672c\u5730\u786e\u5b9a\u751f\u7269\u4f53\u7684\u5b8c\u6574\u57fa\u56e0\u7ec4\u5e8f\u5217\uff0c\u7cbe\u51c6\u68c0\u6d4b\u6bcf\u4e2a\u6837\u672c\u57fa\u56e0\u7ec4\u4e2d\u7684\u53d8\u5f02\u96c6\u5408\uff0c\u8fdb\u800c\u660e\u786e\u53ef\u80fd\u81f4\u75c5\u7684\u57fa\u56e0\u53d8\u5f02\uff0c\u8f85\u52a9\u4e34\u5e8a\u65e9\u671f\u51c6\u786e\u7b5b\u67e5\u7f55\u89c1\u75c5\u548c\u9057\u4f20\u75be\u75c5\uff0c\u4e3a\u5371\u91cd\u60a3\u513f\u4e89\u53d6\u5173\u952e\u7684\u6cbb\u7597\u65f6\u95f4\u7a97\u3001\u6539\u53d8\u6cbb\u7597\u51b3\u7b56\u3001\u63d0\u4f9b\u9884\u540e\u5224\u65ad\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u6839\u636e\u90d1\u5927\u4e00\u9662\u9057\u4f20\u4e0e\u4ea7\u524d\u8bca\u65ad\u4e2d\u5fc3[5]\uff0c\u4ee5\u5f80\u5e38\u89c4\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u5f80\u5f80\u9700\u89813-4\u5468\uff0c\u751a\u81f31-2\u4e2a\u6708\u7684\u62a5\u544a\u5468\u671f\u3002\u800c\u6781\u901f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f(rWGS)\u80fd\u591f\u572824\u5c0f\u65f6~48\u5c0f\u65f6\u5185\u83b7\u5f97\u660e\u786e\u7684\u8bca\u65ad, \u5927\u5927\u7f29\u77ed\u4e86\u8bca\u65ad\u5468\u671f\uff0c\u53ef\u4ee5\u4e3a\u6025\u5371\u91cd\u75c7\u60a3\u513f\u4e89\u53d6\u5173\u952e\u7684\u6cbb\u7597\u65f6\u95f4\u7a97\u3002<\/div>\n<div>rWGS\u76f8\u5bf9WGS\uff0c\u4e3b\u8981\u901a\u8fc7\u6d41\u7a0b\u8bbe\u8ba1\u53ca\u5de5\u5177\u4f18\u5316\uff0c\u7f29\u77ed\u4ece\u6837\u672c\u5230\u62a5\u544a\u7684\u65f6\u95f4\u30022012\u5e74\uff0cRady\u513f\u7ae5\u57fa\u56e0\u7ec4\u533b\u5b66\u7814\u7a76\u6240\u7684Stephen Kingsmore\u56e2\u961f\u5728PICU\u73af\u5883\u4e0b\u572850\u5c0f\u65f6\u5185\u505a\u51fa\u57fa\u4e8eWGS\u6d4b\u5e8f\u7684\u5206\u5b50\u8bca\u65ad[6]\uff0c\u7b2c\u4e00\u6b21\u5b9e\u73b0rWGS\u7684\u4e34\u5e8a\u53ef\u884c\u6027\u7814\u7a76\u30022022\u5e74\uff0cStephen\u56e2\u961f\u4e0eIllumina\u3001Alexion\u5236\u836f\u3001RPRD\u8bca\u65ad\u5b9e\u9a8c\u5ba4\u53ca\u5176\u4ed6\u591a\u4e2a\u7814\u7a76\u4e2d\u5fc3\u5408\u4f5c\u5efa\u7acbGenome-to-Treatment\uff08 GTRx\uff09\u8bca\u65ad\u7ba1\u7406\u7cfb\u7edf\uff0c\u572813.5\u5c0f\u65f6\u5185\u5bf9\u67d3\u8272\u4f53\u7ed3\u6784\u53d8\u5f02\uff08SV\uff09\u548c\u62f7\u8d1d\u6570\u53d8\u5f02\uff08CNV\uff09\u8fdb\u884c\u9057\u4f20\u5206\u6790\uff0c\u5b9e\u73b0\u9057\u4f20\u75c5\u8bca\u65ad[7]\u3002<\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB16vJnkrjGNjxS6Rf9qZXdia7LaLPVeFAGiaxCaic15Qzq26ExpKe01pyHEerv9Dudbq2xz54NAQ8DA.png\" alt=\"RmFicvQBAkgB16vJnkrjGNjxS6Rf9qZXdia7LaLPVeFAGiaxCaic15Qzq26ExpKe01pyHEerv9Dudbq2xz54NAQ8DA\"\/><\/figure><\/div>\n\n<p style=\"text-align: center;\">\u56fe\uff1arWGS\u7684\u6280\u672f\u6d41\u7a0b\uff08\u6765\u6e90\/Stephen Kingsmore et al. 2022\uff09<\/p>\n<p>\u540c\u5e74\uff0cEuan Ashely\u5c0f\u7ec4\u901a\u8fc7\u725b\u6d25\u7eb3\u7c73\u5b54\u6280\u672f\u5e73\u53f0\u5c06rWGS\u7684\u901f\u5ea6\u8fdb\u4e00\u6b65\u63d0\u5347\uff0c\u57287\u5c0f\u65f6\u5185\u8bca\u65ad\u51fa\u60a3\u6709\u9057\u4f20\u75c5\u7684\u5371\u91cd\u513f\u7ae5[8]\u3002<\/p>\n<div>2012~2021\u5e74\u671f\u95f4\uff0c\u7d2f\u8ba131\u9879\u8bd5\u9a8c\u30012433\u540d\u513f\u7ae5\u5728\u63a5\u53d7rWGS\u6d4b\u5e8f\u540e\u5b9e\u73b0\u4e86\u5e73\u574737%\u7684\u8bca\u65ad\uff0c29%\u7684\u60a3\u513f\u5728\u4e34\u5e8a\u7ba1\u7406\u4e0a\u5b9e\u73b0\u4e86\u65b9\u6848\u8c03\u6574\uff0c18%\u7684\u6848\u4f8b\u5b9e\u73b0\u4e86\u4e0d\u540c\u7684\u4e34\u5e8a\u7ed3\u5c40\uff0c\u8bc1\u660e\u4e86\u5feb\u901f\u3001\u751a\u81f3\u8d85\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4f5c\u4e3a\u4e00\u7ebf\u68c0\u6d4b\u6280\u672f\u7684\u8bca\u65ad\u529f\u6548\u6027\u548c\u4e34\u5e8a\u529f\u6548\u6027\u3002<\/div>\n<div>2021\u5e74\uff0c\u590d\u65e6\u5927\u5b66\u9644\u5c5e\u513f\u79d1\u533b\u9662\u5468\u6587\u6d69\u526f\u9662\u957f\u7b4913\u4f4d\u4e13\u5bb6\u8054\u5408\u53d1\u5e03\u4e86\u4e2d\u56fd\u9996\u4e2a\u300a\u5371\u91cd\u65b0\u751f\u513f\u9057\u4f20\u6027\u75be\u75c5\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4e13\u5bb6\u5171\u8bc6\u300b\uff0c\u6307\u5bfc\u5371\u91cd\u65b0\u751f\u513f\u7684\u4e34\u5e8a\u5feb\u901f\u8bca\u65ad\uff0c\u63a8\u52a8\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u6280\u672f\u5728\u7f55\u89c1\u75c5\u9886\u57df\u7684\u89c4\u8303\u5316\u3001\u6807\u51c6\u5316\u5e94\u7528\u3002<\/div>\n<div>3<\/div>\n<div>\u65b0\u7b5b\u9886\u57df\u4ea7\u4e1a\u8fdb\u5c55\u53ca\u4ee3\u8868\u4f01\u4e1a<\/div>\n<div>\u7684<\/div>\n<div>\u968f\u7740\u56fd\u6c11\u5bf9\u751f\u547d\u5065\u5eb7\u7684\u91cd\u89c6\u7a0b\u5ea6\u63d0\u5347\uff0c\u4ee5\u53carWGS\u7b49\u6280\u672f\u7684\u8fdb\u4e00\u6b65\u53d1\u5c55\u548c\u6210\u672c\u7684\u6301\u7eed\u4e0b\u964d\uff0c\u57fa\u56e0\u68c0\u6d4b\u5e94\u7528\u65b0\u751f\u513f\u75be\u75c5\u7b5b\u67e5\u7684\u8303\u56f4\u4e5f\u5c06\u4e0d\u65ad\u6269\u5927\u3002<\/div>\n<div>\u540c\u65f6\uff0c\u6211\u4eec\u77e5\u9053\uff0c\u57fa\u4e8e\u57fa\u56e0\u68c0\u6d4b\u7b5b\u67e5\u6280\u672f\u5c1a\u5904\u4e8e\u8d77\u6b65\u9636\u6bb5\uff0c\u5e02\u573a\u6025\u9700\u6807\u51c6\u5316\u7684\u4e34\u5e8a\u6559\u80b2\u624b\u6bb5\u548c\u5b8c\u5584\u7684\u4ea7\u54c1\u89e3\u51b3\u65b9\u6848\uff0c\u5e03\u5c40\u5f00\u53d1\u6f5c\u5728\u4e34\u5e8a\u5e94\u7528\uff0c\u4e3a\u4e34\u5e8a\u63d0\u4f9b\u4ece\u75be\u75c5\u7b5b\u67e5\u3001\u8f85\u52a9\u8bca\u65ad\u5230\u6307\u5bfc\u6cbb\u7597\u4e43\u81f3\u75be\u75c5\u53d1\u73b0\u7684\u5b8c\u6574\u89e3\u51b3\u65b9\u6848\uff0c\u4ee5\u66f4\u597d\u5730\u6ee1\u8db3\u5404\u65b9\u9700\u6c42\u3002<\/div>\n<div>01<\/div>\n<div>PerkinElmer<\/div>\n<div>PerkinElmer\uff08\u73c0\u91d1\u57c3\u5c14\u9ed8\uff09\u4e8e1978\u5e74\u8fdb\u5165\u4e2d\u56fd\uff0c\u4e1a\u52a1\u6db5\u76d6\u533b\u5b66\u8bca\u65ad\u3001\u79d1\u7814\u548c\u5206\u6790\u4eea\u5668\u7b49\uff0c\u5728\u5987\u5e7c\u5065\u5eb7\u9886\u57df\u575a\u6301\u6280\u672f\u521b\u65b0\uff0c\u4e3a\u4ea7\u524d\u7b5b\u67e5\u3001\u4ea7\u524d\u8bca\u65ad\u3001\u65b0\u751f\u513f\u7b5b\u67e5\u7b49\u63d0\u4f9b\u4e00\u7ad9\u5f0f\u7684\u4ea7\u54c1\u548c\u670d\u52a1\u89e3\u51b3\u65b9\u6848\uff0c\u5b88\u62a4\u6bcd\u5a74\u5065\u5eb7\u3002\u5728\u65b0\u751f\u513f\u7b5b\u67e5\u9886\u57df\u4e0d\u65ad\u62d3\u5c55\u7b5b\u67e5\u80fd\u529b\uff0c\u5c24\u5176\u662f\u5bf9\u6eb6\u9176\u4f53\u8d2e\u79ef\u75c7\u3001\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u3001\u91cd\u75c7\u8054\u5408\u514d\u75ab\u7f3a\u9677\u7b49\u7f55\u89c1\u75be\u75c5\u7684\u7b5b\u67e5\u3002<\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgAYEnrZibLMWz13xHeI26wcibqicrXbv8qR1lzgWl8Jybg7JKib2lekTlaxw21L5BDnTfCOyoF0feE3gg\/0?wx_fmt=png\" alt=\"0?wx_fmt=png\"\/><\/figure><\/div>\n\n<\/p>\n<p>02<\/p>\n<div>\u8d1d\u745e\u57fa\u56e0<\/div>\n<div>\u8d1d\u745e\u57fa\u56e0\u6210\u7acb\u4e8e2010\u5e74\uff0c2017\u5e74\u5728A\u80a1\u4e3b\u677f\u4e0a\u5e02\u3002\u5e94\u7528\u9886\u57df\u6db5\u76d6\u751f\u80b2\u5065\u5eb7\u3001\u9057\u4f20\u75c5\u68c0\u6d4b\u3001\u80bf\u7624\u68c0\u6d4b\u3001\u79d1\u6280\u670d\u52a1\u7b49\u677f\u5757\uff0c\u5728\u751f\u80b2\u5065\u5eb7\u9886\u57df\u5f62\u6210\u201c\u4e00\u7ea7\u5b55\u524d\u3001\u4e8c\u7ea7\u5b55\u671f\u3001\u4e09\u7ea7\u65b0\u751f\u513f\u201d\u9884\u9632\u7efc\u5408\u4f53\u7cfb\u3002\u5728\u9057\u4f20\u75c5\u68c0\u6d4b\u9886\u57df\u4ee5WES\u548cCNV-seq\u6280\u672f\u4e3a\u6838\u5fc3\uff0c\u4e3a\u4e34\u5e8a\u63d0\u4f9b\u591a\u79cd\u68c0\u6d4b\u7ec4\u5408\u65b9\u6848\uff0c\u63d0\u4f9b\u8986\u76d6\u51fa\u751f\u7f3a\u9677\u4e09\u7ea7\u9884\u9632\u7684\u751f\u80b2\u5065\u5eb7\u3001\u9057\u4f20\u75c5\u57fa\u56e0\u68c0\u6d4b\u670d\u52a1\u3002<\/div>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgAYEnrZibLMWz13xHeI26wcib2WktdtNCayvetZ0b3WD9t65YLn53iaCal58hoquwRzdfsQB685bOHJw\/0?wx_fmt=png\" alt=\"0?wx_fmt=png\"\/><\/figure><\/div>\n\n<\/p>\n<div>03<\/div>\n<div>\u534e\u5927\u57fa\u56e0<\/div>\n<div>\u534e\u5927\u57fa\u56e0\u51ed\u501f\u591a\u9886\u57df\u3001\u591a\u5e73\u53f0\u3001\u591a\u7ec4\u5b66\u4ee5\u53ca\u5927\u6570\u636e\u5206\u6790\u7684\u7a81\u51fa\u4f18\u52bf\uff0c\u8054\u5408\u201c\u8d28\u8c31+\u6d4b\u5e8f\u201d\u4e24\u79cd\u6280\u672f\uff0c\u6253\u9020\u65b0\u7b5b\u68c0\u6d4b\u7684\u95ed\u73af\u670d\u52a1\u3002\u57fa\u4e8e\u9ad8\u901a\u91cf\u6d4b\u5e8f\u4eea\u7b49\u521b\u65b0\u578b\u81ea\u4e3b\u68c0\u6d4b\u5e73\u53f0\uff0c\u4e1a\u52a1\u6db5\u76d6\u5b55\u524d\u3001\u5b55\u671f\u3001\u65b0\u751f\u513f\u53ca\u513f\u7ae5\u5404\u9636\u6bb5\uff0c\u5f00\u5c55\u4e0e\u751f\u80b2\u5065\u5eb7\u76f8\u5173\u7684\u57fa\u7840\u7814\u7a76\u548c\u4e34\u5e8a\u5e94\u7528\u670d\u52a1\u3002\u57fa\u4e8e\u4e34\u5e8a\u8d28\u8c31\u68c0\u6d4b\u670d\u52a1\u5e73\u53f0\uff0c\u5f00\u53d1\u4e00\u7cfb\u5217\u533b\u5b66\u68c0\u9a8c\u4ea7\u54c1\uff0c\u5305\u62ec\u65b0\u751f\u513f\u9057\u4f20\u4ee3\u8c22\u75c5\u7b5b\u67e5\u3001\u65b0\u751f\u513f\u5148\u5929\u6027\u80be\u4e0a\u817a\u76ae\u8d28\u589e\u751f\u75c7\u68c0\u6d4b\u3001\u65b0\u751f\u513f\u6eb6\u9176\u4f53\u8d2e\u79ef\u75c7\u68c0\u6d4b\u3001\u5b55\u671f\u8425\u517b\u68c0\u6d4b\u3001\u4eba\u4f53\u6c28\u57fa\u9178\u68c0\u6d4b\u7b49\u4ea7\u54c1\u3002<\/div>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgAYEnrZibLMWz13xHeI26wcibwsaRR9UDjQiab8syXZQEXtGl7XfgF8Nnsc9CicjUSNTswJW10EgdmnPg\/0?wx_fmt=png\" alt=\"0?wx_fmt=png\"\/><\/figure><\/div>\n\n<\/p>\n<div>04<\/div>\n<div>\u8d5b\u798f\u57fa\u56e0<\/div>\n<\/p>\n<p>\u8d5b\u798f\u57fa\u56e0\u6210\u7acb\u4e8e2015\u5e74\uff0c\u4e13\u6ce8\u4e8e\u9057\u4f20\/\u7f55\u89c1\u75c5\u7684\u57fa\u56e0\u68c0\u6d4b\uff0c\u8986\u76d6\u5230\u795e\u7ecf\u7cfb\u7edf\u9057\u4f20\u6027\u75be\u75c5\u3001\u5185\u5206\u6ccc\u9057\u4f20\u6027\u75be\u75c5\u4ee5\u53ca\u8840\u6db2\u7cfb\u7edf\u3001\u547c\u5438\u7cfb\u7edf\u3001\u773c\u75c5\u3001\u80be\u75c5\u7b49\u9057\u4f20\u6027\u75be\u75c5\u9886\u57df\u3002\u81ea\u4e3b\u642d\u5efaThe Merlion\u7cfb\u7edf\uff0c\u5e03\u5c40\u4e86\u4ece\u65b0\u751f\u513f\u9057\u4f20\u75c5\u7b5b\u67e5\u3001\u4e34\u5e8a\u8f85\u52a9\u8bca\u65ad\u5230\u529f\u80fd\u9a8c\u8bc1\u548c\u836f\u7269\u7814\u53d1\u7684\u5b8c\u6574\u95ed\u73af\u670d\u52a1\u53ca\u4ea7\u54c1\u4f53\u7cfb\u3002<\/p>\n<\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgAYEnrZibLMWz13xHeI26wcibb7JL3hIfhrDn9BicnlmsOAmhOwCmPtt1MsEc5zAAvBbVjNLYnHChvXg\/0?wx_fmt=png\" alt=\"0?wx_fmt=png\"\/><\/figure><\/div>\n\n<\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB16vJnkrjGNjxS6Rf9qZXdr06hiauiaG08qP18PRP8RhIdica0ExibMic25J9VFx5NibxMWX4XqrPJVib7w.png\" alt=\"RmFicvQBAkgB16vJnkrjGNjxS6Rf9qZXdr06hiauiaG08qP18PRP8RhIdica0ExibMic25J9VFx5NibxMWX4XqrPJVib7w\"\/><\/figure><\/div>\n\n<p style=\"text-align: center;\">\u56fe\uff1a2005-2021\u5e74\uff0cWGS\u7684\u6210\u672c(\u7ea2\u7ebf)\u548crWGS\u7684\u8bca\u65ad\u65f6\u95f4(\u84dd\u7ebf)\u9010\u5e74\u4e0b\u964d<\/p>\n<p style=\"text-align: center;\">\uff08\u6765\u6e90\/Stephen Kingsmoreetal. 2022\uff09<\/p>\n<div>\u5c55\u671b\u672a\u6765\uff0c\u65b0\u751f\u513f\u7b5b\u67e5\u6280\u672f\u53d1\u5c55\u8d8b\u52bf\u4ecePCR\u3001\u9776\u5411panel\u3001\u5927panel\u5230\u57fa\u56e0\u7ec4\u7b5b\u67e5\u3002rWGS\u5177\u6709\u660e\u663e\u7684\u4f18\u52bf\u548c\u5bf9\u5e94\u7684\u5c40\u9650[3]\uff1a<\/div>\n<p>1\uff09\u6574\u4f53\u8017\u65f6\u77ed\uff1a\u7531\u4e8e\u65e0\u9700\u5efa\u5e93\uff0c\u6574\u4f53\u8017\u65f6\u8f83 WES \u548c\u57fa\u56e0 Panel \u66f4\u77ed\uff0c\u5728\u5371\u91cd\u75c7\u65b0\u751f\u513f\u9057\u4f20\u75c5\u75c5\u56e0\u68c0\u6d4b\u4e2d\u80fd\u53d1\u6325\u66f4\u5927\u7684\u4f5c\u7528\uff1b<\/p>\n<p>2)\u00a0\u68c0\u6d4b\u8303\u56f4\u5e7f\uff1a\u53ef\u4ee5\u68c0\u6d4b\u666e\u901apanel\u65e0\u6cd5\u68c0\u6d4b\u7684\u7ebf\u7c92\u4f53\u3001\u975e\u7f16\u7801\u533a\uff0c\u53ef\u8fdb\u884c\u5b8f\u57fa\u56e0\u7ec4\u5206\u6790\u7b49\uff1b\u540c\u65f6\uff0c\u68c0\u6d4b\u6210\u672c\u4ecd\u7136\u9700\u8981\u964d\u4f4e\uff0c\u52a0\u5f3a\u66f4\u591a\u57fa\u56e0\u89e3\u8bfb\u7684\u6570\u636e\u5e93\u53ca\u5de5\u5177\uff0c\u67d3\u8272\u4f53\u7ed3\u6784\u53d8\u5f02\u6709\u5f85\u9a8c\u8bc1\uff0c\u7531\u4e8eNGS\u7684\u77ed\u8bfb\u957f\uff0c\u65e0\u6cd5\u6709\u6548\u68c0\u6d4b\u5d4c\u5408\u7a81\u53d8\uff08\u9700\u7ed3\u5408\u4e09\u4ee3\u6d4b\u5e8f\uff09\u3002<\/p>\n<div>\u5728\u6210\u672c\u8fdb\u4e00\u6b65\u964d\u4f4e\u60c5\u51b5\u4e0b\uff0c\u6709\u671b\u672a\u6765\u5b9e\u73b0rWGS\u7684\u4ea7\u54c1\u5316\u53ca\u5e02\u573a\u51c6\u5165\u3002\u672a\u6765\u9700\u8981\u8fdb\u4e00\u6b65\u5173\u6ce8\u7684\u91cd\u70b9\u5305\u62ec\uff1a<\/div>\n<p>1\uff09\u4f18\u5316\u6216\u5f00\u53d1\u66f4\u5168\u3001\u66f4\u51c6\u786e\u7684\u57fa\u56e0\u529f\u80fd\u6ce8\u91ca\u6570\u636e\u5e93\uff0c\u52a0\u5f3a\u9057\u4f20\u54a8\u8be2\u57f9\u8bad\uff1b<\/p>\n<p>2\uff09\u57fa\u4e8e\u5987\u5e7c\u4eba\u7fa4\u7684\u751f\u547d\u4f26\u7406\u89c4\u8303\u7684\u7ec6\u5219\u5316\uff1b<\/p>\n<p>3\uff09\u52a0\u901f\u57fa\u56e0\u7ec4\u548c\u4ee3\u8c22\u7ec4\u7684\u6574\u5408\uff0c\u8fdb\u4e00\u6b65\u7ed9\u533b\u7597\u673a\u6784\u548c\u53d7\u68c0\u8005\u63d0\u4f9b\u5feb\u6377\u3001\u4fbf\u5b9c\u3001\u9ad8\u7075\u654f\u5ea6\u548c\u51c6\u786e\u7387\u7684\u4ea7\u54c1\u83dc\u5355\uff0c\u5f3a\u5316\u670d\u52a1\u4ef7\u503c\uff1b<\/p>\n<p>4\uff09\u5728\u4ee5\u4e0a\u57fa\u7840\u4e0a\uff0c\u4e0eCRO\u53ca\u836f\u4f01\u5408\u4f5c\u65b0\u836f\u9776\u70b9\u53d1\u73b0\u3001\u4e34\u5e8a\u8bd5\u9a8c\u548c\u57fa\u56e0\u6cbb\u7597\u7b49\uff0c\u534f\u529b\u5408\u89c4\u7684\u4e34\u5e8a\u5e94\u7528\u548c\u533b\u836f\u7684\u8f6c\u5316\u7814\u7a76\u3002<\/p>\n<div>\u53c2\u8003\u4fe1\u606f\uff1a<\/div>\n<p>1.\u4e2d\u534e\u9884\u9632\u533b\u5b66\u4f1a\u51fa\u751f\u7f3a\u9677\u4e0e\u63a7\u5236\u4e13\u4e1a\u59d4\u5458\u4f1a\u65b0\u751f\u513f\u9057\u4f20\u4ee3\u8c22\u75c5\u7b5b\u67e5\u5b66\u7ec4,\u4e2d\u534e\u533b\u5b66\u4f1a\u513f\u79d1\u5b66\u5206\u4f1a\u65b0\u751f\u513f\u5b66\u7ec4.\u4e2d\u56fd\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\u4e13\u5bb6\u5171\u8bc6\uff1a\u9ad8\u901a\u91cf\u6d4b\u5e8f\u5728\u5355\u57fa\u56e0\u75c5\u7b5b\u67e5\u4e2d\u7684\u5e94\u7528[J].\u4e2d\u534e\u5b9e\u7528\u513f\u79d1\u4e34\u5e8a\u6742\u5fd7,2023,38(1):31-36.DOI:10.3760\/cma.j.cn101070-20221103-01252.<\/p>\n<p>2.http:\/\/www.stats.gov.cn\/sj\/zxfb\/202304\/t20230417_1938688.html<\/p>\n<p>3.https:\/\/beta.clinicaltrials.gov\/study\/NCT03655223<\/p>\n<p>4. \u5434\u51b0\u51b0,\u6768\u7433. \u5371\u91cd\u65b0\u751f\u513f\u9057\u4f20\u6027\u75be\u75c5\u5feb\u901f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4e13\u5bb6\u5171\u8bc6[J]. \u4e2d\u56fd\u5faa\u8bc1\u513f\u79d1\u6742\u5fd7, 2020, v.15(05):5-8.<\/p>\n<p>5. \u9057\u4f20\u6027\u75be\u75c5\u8bca\u65ad\u201c\u63d0\u901f\u201d48\u5c0f\u65f6\u53ef\u5b8c\u6210\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff0c\u533b\u836f\u536b\u751f\u62a5\u793e\uff0c2023<\/p>\n<p>6. Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126\/scitranslmed.3004041. PMID: 23035047; PMCID: PMC4283791.<\/p>\n<p>7. Owen, M.J., Lefebvre, S., Hansen, C. et al. An automated 13.5\u2009hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun 13, 4057 (2022). https:\/\/doi.org\/10.1038\/s41467-022-31446-6<\/p>\n<p>8. Goenka SD, Gorzynski JE, et al. Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. Nat Biotechnol. 2022 Jul;40(7):1035-1041. doi: 10.1038\/s41587-022-01221-5. Epub 2022 Mar 28. PMID: 35347328; PMCID: PMC9287171.<\/p>\n<div>\u6269\u5c55\u9605\u8bfb<\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247513467&amp;idx=1&amp;sn=8ec0d7db8ef5db26e80897e9e15edefa&amp;chksm=eb7107ccdc068eda0046f770e4f9bcf3d9d10774cf5d58a6f3c7e9b753bd2bfd0826514f3d2d&amp;scene=21#wechat_redirect\">18\u5bb6\u673a\u6784\u8d1f\u8d23\u4eba\u5171\u805a\u57fa\u56e0\u884c\u4e1a\u7814\u8ba8\u4f1a<\/a><\/div>\n<div>\u4e13\u8bbf<a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247513508&amp;idx=1&amp;sn=03e51c22b1d33a19a4132db677a446f0&amp;chksm=eb710713dc068e05896c89b0ae06a5d74d1c90ac4bc24b56b934d653698a75c70a82cccc0853&amp;scene=21#wechat_redirect\">\u738b\u827a\uff1a\u57fa\u56e0\u68c0\u6d4b\u4e3a\u7f55\u89c1\u75c5\u8bca\u65ad\u63d0\u4f9b\u6709\u529b\u6b66\u5668<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247513590&amp;idx=1&amp;sn=4a67ce9ca732268b4b398299d57e0e04&amp;chksm=eb710741dc068e572245da1ed8dd4d70175e01e10383ffb6f2ad3a20a7f5ab352eadf4bc9542&amp;scene=21#wechat_redirect\">\u57fa\u56e0\u884c\u4e1a\u7b80\u62a5\uff08228\u671f\uff09<\/a><\/div>\n<div>\u3010\u58f0\u660e\u3011\u4e3a\u4e86\u63a8\u52a8\u57fa\u56e0\u53ca\u6570\u5b57\u751f\u547d\u5065\u5eb7\u79d1\u6280\u63a8\u5e7f\u3001\u4ea7\u4e1a\u53d1\u5c55\u53ca\u653f\u4ea7\u5b66\u7814\u7528\u8fde\u63a5\uff0c\u57fa\u56e0\u6167\u79c9\u6301\u4e13\u4e1a\u3001\u8d4b\u80fd\u3001\u4e2d\u7acb\u7684\u7acb\u573a\u6536\u96c6\u3001\u5206\u6790\u53ca\u53d1\u5e03\u76f8\u5173\u4fe1\u606f\u3002\u4f46\u7531\u4e8e\u65f6\u6548\u6027\u53ca\u884c\u4e1a\u7279\u6b8a\u6027\uff0c\u6240\u520a\u767b\u5185\u5bb9\u4ec5\u4f9b\u7814\u7a76\u53c2\u8003\uff0c\u672a\u7ecf\u8bf4\u660e\u4e0d\u4f5c\u4e3a\u51b3\u7b56\u4f9d\u636e\uff1b\u672c\u6587\u76f8\u5173\u4fe1\u606f\u4e0d\u4ee3\u8868\u57fa\u56e0\u6167\u7684\u89c2\u70b9\uff1b\u57fa\u56e0\u6167\u5e73\u53f0\u520a\u767b\u7684\u539f\u521b\u5185\u5bb9\u7684\u77e5\u8bc6\u4ea7\u6743\u4e3a\u201c\u57fa\u56e0\u6167\u201d\u5546\u6807\u62e5\u6709\u8005\u53ca\u76f8\u5173\u6743\u5229\u4eba\u6240\u6709\uff1b\u6b22\u8fce\u8f6c\u8f7d\uff0c\u8f6c\u8f7d\u8bf7\u7533\u8bf7\u5e76\u6ce8\u660e\u6765\u6e90\u3002\u6b22\u8fce\u4e2a\u4eba\u53ca\u673a\u6784\u6295\u7a3f\u53ca\u5408\u4f5c\u3002<\/div>\n<p>\u00a0\u5173\u4e8e\u57fa\u56e0\u6167\u00a0<\/p>\n<div>\u57fa\u56e0\u6167\u6210\u7acb\u4e8e2015\u5e74\uff0c\u4e13\u6ce8\u6570\u5b57\u751f\u547d\u5065\u5eb7\u4ea7\u4e1a\u77e5\u8bc6\u670d\u52a1\u3002\u521b\u59cb\u56e2\u961f\u6df1\u8015\u884c\u4e1a\u4e00\u7ebf\u5341\u4f59\u5e74\uff0c\u79c9\u6301\u201c\u4f7f\u8fde\u63a5\u4ea7\u751f\u4ef7\u503c\uff0c\u7528\u6570\u636e\u770b\u89c1\u672a\u6765\u201d\u7684\u7406\u5ff5\uff0c\u57fa\u4e8e\u4ea7\u4e1a\u667a\u5e93\u548c\u4e13\u4e1a\u5185\u5bb9\uff0c\u63d0\u4f9b\u4ea7\u4e1a\u89c4\u5212\u3001\u884c\u7814\u54a8\u8be2\u3001\u79d1\u6280\u63a8\u5e7f\u7b49\u670d\u52a1\u3002\u8fde\u7eed\u4e94\u5e74\u53d1\u5e03\u884c\u4e1a\u84dd\u76ae\u4e66\uff0c\u88ab\u56fd\u5bb6\u53ca\u7701\u5e02\u7ea7\u4ea7\u4e1a\u62a5\u544a\u6536\u5f55\uff0c\u534f\u52a9\u5b66\u4f1a\u4e13\u5bb6\u7b49\u7ec4\u7ec7\u4ea7\u4e1a\u673a\u6784\u53d1\u5e03\u591a\u9879\u884c\u4e1a\u5171\u8bc6\uff0c\u63a8\u52a8\u751f\u547d\u79d1\u6280\u666e\u60e0\u548c\u4ea7\u4e1a\u521b\u65b0\u53d1\u5c55\u3002<\/div>\n<div>\u2606\u00a0\u56fd\u53d1\u6539\u300a\u6218\u7565\u6027\u65b0\u5174\u4ea7\u4e1a\u53d1\u5c55\u5c55\u671b\u300b\u767d\u76ae\u4e66\u6267\u7b14<\/div>\n<div>\u2606\u00a0\u8fde\u7eed\u4e94\u5e74\u53d1\u5e03\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66<\/div>\n<div>\u2606\u00a0\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u80bf\u7624\u6807\u5fd7\u4e13\u4e1a\u59d4\u5458\u4f1a\u6218\u7565\u5408\u4f5c\u5355\u4f4d<\/div>\n<div>\u2606\u00a0\u4e2d\u56fd\u9057\u4f20\u5b66\u4f1a\u751f\u7269\u4ea7\u4e1a\u4fc3\u8fdb\u59d4\u5458\u4f1a\u59d4\u5458<\/div>\n<div>\u2606\u00a0\u5e7f\u4e1c\u7701\u7cbe\u51c6\u533b\u5b66\u5e94\u7528\u5b66\u4f1a\u653f\u7b56\u7814\u7a76\u5e94\u7528\u5206\u4f1a\u5e38\u59d4<\/div>\n<div>\u2606\u00a0\u6df1\u5733\u5e02\u5065\u5eb7\u4ea7\u4e1a\u53d1\u5c55\u4fc3\u8fdb\u4f1a\u526f\u4f1a\u957f\u5355\u4f4d<\/div>\n<div>\u2606 \u521b\u59cb\u4eba\u5165\u9009\u6df1\u5733\u5e02\u79d1\u6280\u4e13\u5bb6\u5e93\u4e13\u5bb6<\/div>\n<div>\u2606\u00a0\u53c2\u4e0e\u7ec4\u7ec7\u591a\u5bb6\u57fa\u56e0\u673a\u6784\u591a\u9879\u884c\u4e1a\u5171\u8bc6\u548c\u56e2\u4f53\u6807\u51c6<\/div>\n<div>\u2606\u00a0\u7ec4\u7ec7\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\uff08\u7b79\uff09\u9996\u5c4a\u3001\u7b2c\u4e8c\u5c4a\u4f1a\u8bae<\/div>\n<div>\u2606\u00a0\u4e3b\u529e\u6570\u5b57\u5065\u5eb7\u79c1\u8463\u4f1a\u3001\u5927\u6e7e\u533a\u751f\u547d\u5065\u5eb7\u521b\u65b0\u8bba\u575b<\/div>\n<\/p>","protected":false},"excerpt":{"rendered":"<p>\u591a\u6570\u65b0\u751f\u513f\u9057\u4f20\u6027\u75be\u75c5\u901a\u5e38\u5728\u53d1\u75c53~6\u4e2a\u6708\u540e\u624d\u51fa\u73b0\u4e34 &hellip;<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[1444,1544],"class_list":["post-7973","post","type-post","status-publish","format-standard","hentry","category-industryresearch","tag-1444","tag-1544"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/7973","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/comments?post=7973"}],"version-history":[{"count":4,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/7973\/revisions"}],"predecessor-version":[{"id":13320,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/7973\/revisions\/13320"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=7973"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=7973"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=7973"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}