{"id":9362,"date":"2018-11-26T16:20:14","date_gmt":"2018-11-26T08:20:14","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100007993&idx=1&sn=422f8cd28592a49bb2197adfb3a39470&chksm=6b71528e5c06db988bd77ade7a3c735527ce4ad21a5db508fb375dbdbf86124e0c1f0d0a25c5#rd"},"modified":"2026-04-02T16:16:25","modified_gmt":"2026-04-02T08:16:25","slug":"995651","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2018\/11\/26\/995651\/","title":{"rendered":"\u738b\u8c22\u5802\u524d\u71d5\u98de\u5165\u767e\u59d3\u5bb6\uff1aNGS\u4e34\u5e8a\u843d\u5730\u62c9\u5f00\u5927\u5e55\uff0c\u7ec6\u68b3\u5e94\u7528\u5173\u952e\u70b9"},"content":{"rendered":"

<\/p>\n

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\"RmFicvQBAkgCuC54K47siaoibvbClYbpoQdmoEA7Yo9T0l4l5c9wsK8DWv13zXvBYojNDUX4HpbxOEe8enSicCuVVg\"\/<\/figure><\/div>\n\n<\/div>\n
<\/div>\n
\u5173\u952e\u8bcd\/NGS \u4e34\u5e8a\u57fa\u56e0\u6d4b\u5e8f \u6587\/\u57fa\u56e0\u6167<\/div>\n
<\/div>\n
\u57fa\u4e8e\u65b0\u4e00\u4ee3\u9ad8\u901a\u91cf\u6d4b\u5e8f(NGS)\u7684\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\uff0c\u5df2\u5e2e\u52a9\u4e34\u5e8a\u533b\u751f\u5bf9\u6570\u767e\u4e07\u7684\u5b55\u5987\u8fdb\u884c\u4ea7\u524d\u68c0\u6d4b\u3002\u540c\u65f6\uff0c\u5bf9\u80bf\u7624\u60a3\u8005\u7684\u9776\u5411\u7528\u836f\u3001\u514d\u75ab\u6cbb\u7597\u4ee5\u53ca\u611f\u67d3\u60a3\u8005\u7684\u75c5\u539f\u5fae\u751f\u7269\u76d1\u6d4b\uff0c\u6b63\u8d8a\u6765\u8d8a\u591a\u57fa\u4e8e\u57fa\u56e0\u68c0\u6d4b\u3002\u738b\u8c22\u5802\u524d\u71d5\u98de\u5165\u767e\u59d3\u5bb6\uff0cNGS\u5728\u4e34\u5e8a\u5e94\u7528\u7684\u5927\u5e55\u5df2\u62c9\u5f00\uff0c\u5173\u952e\u56e0\u7d20\u6709\u54ea\u4e9b\uff1f\u70b9\u51fb\u6587\u672b\u201c\u9605\u8bfb\u539f\u6587\u201d\uff0c\u5373\u53ef\u53c2\u4e0eNGS\u4e34\u5e8a\u57fa\u56e0\u6d4b\u5e8f\u8bba\u575b\u7684\u514d\u8d39\u62a2\u7968\uff0c\u4e86\u89e3\u524d\u6cbf\u77e5\u8bc6\u70b9\u3002<\/div>\n
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\"RmFicvQBAkgCMMfFwlJB7xFCM6XqKAHGMGP8kJ0XErVSibich0UE4X2G9bRLSicibWGMpIgzOSzdmDPTqToeW3mGevg\"\/<\/figure><\/div>\n\n
\u56fe\u7247\u6765\u81ea\u4e8e\uff1acbhd.org<\/div>\n
NGS\u7684\u4e34\u5e8a\u5e94\u7528<\/div>\n
1. \u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\uff08\u4e3b\u8981\u9488\u5bf9\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u7b5b\u67e5\uff09\uff1a\u9762\u5411\u5b55\u5987<\/div>\n
2. \u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u7b5b\u67e5\uff08PGS\uff09\u548c\u80da\u80ce\u690d\u5165\u524d\u57fa\u56e0\u8bca\u65ad\uff08PGD\uff09\uff1a\u9762\u5411\u8f85\u52a9\u751f\u6b96<\/div>\n
3. \u80bf\u7624\u6db2\u4f53\u6d3b\u68c0\u548c\u4f34\u968f\u8bca\u65ad\uff08\u9488\u5bf9\u9776\u5411\u57fa\u56e0\u7684\u7528\u836f\u6307\u5bfc\u548c\u8bca\u65ad\uff09\uff1a\u9762\u5411\u80bf\u7624\u60a3\u8005<\/div>\n
4. \u5355\u57fa\u56e0\u9057\u4f20\u75c5\u68c0\u6d4b\uff1a\u9762\u5411\u9057\u4f20\u75c5\u60a3\u8005\u6216\u5176\u5bb6\u7cfb\u6210\u5458<\/div>\n
5. \u75c5\u539f\u5fae\u751f\u7269\u68c0\u6d4b\uff1a\u9762\u5411\u611f\u67d3\u68c0\u6d4b\u7b49<\/div>\n
6. \u5176\u4ed6<\/div>\n
\u00a0<\/div>\n
NGS\u4e34\u5e8a\u5e94\u7528\u7684\u5173\u952e\u56e0\u7d20<\/div>\n
1. \u68c0\u6d4b\u524d\u7684\u786e\u8ba4\uff1a\u5bf9\u5408\u9002\u7684\u60a3\u8005\uff08\u8868\u578b\u786e\u8ba4\uff09\u5728\u5408\u9002\u7684\u65f6\u95f4\uff08\u6cbb\u7597\u524d\u540e\uff09\u5f00\u5408\u9002\u7684\uff08Panel\/WES\/WGS\uff09\u57fa\u56e0\u68c0\u6d4b\u7533\u8bf7\u5355\u3002<\/div>\n
2. \u6807\u672c\u7684\u8ffd\u6eaf\uff1a\u5728\u91c7\u96c6\u3001\u8fd0\u8f93\u548c\u4fdd\u5b58\u8fc7\u7a0b\u7684\u6240\u6709\u73af\u8282\uff0c\u786e\u4fdd\u6807\u672c\u7684\u7c7b\u578b\uff08DNA\/RNA\uff09\u3001\u5b8c\u6574\u6027\uff08\u662f\u5426\u5206\u89e3\uff09\u548c\u4fe1\u606f\uff08\u7f16\u53f7\u5bf9\u5e94\uff09\u662f\u6b63\u786e\u7684\u3002<\/div>\n
3. \u5408\u683c\u7684\u5b9e\u9a8c\u5ba4\u53ca\u8bbe\u5907\uff1a\u5305\u62ec\u5b9e\u9a8c\u5ba4\u7684\u8d44\u8d28\u3001\u68c0\u6d4b\u65f6\u673a\u7684\u73af\u5883\uff08\u6e7f\u5ea6\u3001\u6e29\u5ea6\u3001\u5206\u533a\u3001\u7535\u78c1\u7b49\u5e72\u6270\uff09\u3001\u8bbe\u5907\u53ca\u8bd5\u5242\u7684\u72b6\u6001\u662f\u5426\u5408\u683c\u3002<\/div>\n
4. \u5408\u683c\u7684\u4eba\u5458\uff1a\u5b9e\u9a8c\u5ba4\u4eba\u5458\u7684SOP\u57f9\u8bad\u53ca\u8bc4\u4f30\u3001\u751f\u7269\u4fe1\u606f\u4eba\u5458\u7684\u80fd\u529b\u3001\u9057\u4f20\u54a8\u8be2\u4eba\u5458\u7684\u8d44\u8d28\u3001IT\u7ba1\u7406\u3002<\/div>\n
5. \u4e25\u683c\u7684\u8d28\u91cf\u7ba1\u7406\uff1a\u5236\u5b9a\u53ef\u64cd\u4f5c\u6027\u7684SOP\u3001SOP\u7684\u57f9\u8bad\u53ca\u9075\u5b88\u3001\u9879\u76ee\u7ba1\u7406\uff08PM\uff09\u7684\u57f9\u8bad\u53ca\u8bc4\u4f30\u3001\u7ed3\u679c\u7684\u51c6\u786e\u6027\u3001\u6b63\u786e\u6027\u548c\u53ef\u91cd\u590d\uff0c\u7b26\u5408\u5ba4\u5185\u8d28\u91cf\u63a7\u5236\u548c\u5ba4\u95f4\u8d28\u91cf\u8bc4\u4ef7\uff0c\u5bf9\u4e8e\u95ee\u9898\u7684\u53cd\u9988\u3001\u7ea0\u9519\u548c\u6539\u8fdb\u7684\u8d28\u91cf\u76d1\u7763\u4f53\u7cfb\u7684\u5efa\u7acb<\/div>\n
6. \u4e13\u4e1a\u7684\u9057\u4f20\u54a8\u8be2\uff1a\u68c0\u6d4b\u524d\u7684\u9057\u4f20\u54a8\u8be2\uff08\u5305\u62ec\u662f\u5426\u5408\u9002\u3001\u4f26\u7406\u53ca\u9690\u79c1\u3001\u77e5\u60c5\u540c\u610f\u7b49\uff09\u3001\u68c0\u6d4b\u540e\u7684\u9057\u4f20\u54a8\u8be2\uff08\u68c0\u6d4b\u7ed3\u679c\u7684\u7406\u89e3\u3001\u89e3\u8bfb\u548c\u4f20\u8fbe\uff09\u4ee5\u53ca\u9057\u4f20\u54a8\u8be2\u4e0e\u4e34\u5e8a\u533b\u751f\u3001\u751f\u7269\u4fe1\u606f\u5206\u6790\u548c\u5b9e\u9a8c\u5ba4\u68c0\u6d4b\u7684\u6709\u6548\u6c9f\u901a\u548c\u4e13\u4e1a\u7ba1\u7406\u3002<\/div>\n
\u00a0<\/div>\n
NGS\u4e34\u5e8a\u5e94\u7528\u7684\u8bc4\u4f30\uff1a\u6709\u6548\u6027\u548c\u6709\u7528\u6027<\/div>\n
1. \u4e34\u5e8a\u6709\u6548\u6027\uff08Clincal Validity\uff09<\/div>\n
\u6839\u636e\u7279\u5b9a\u6807\u5fd7\u7269\u68c0\u6d4b\u7684\u7ed3\u679c\uff0c\u53ef\u4ee5\u6709\u6548\u5730\u5c06\u60a3\u8005\u6c1b\u56f4\u4e24\u7c7b\u6216\u591a\u7c7b\uff0c\u4ece\u7edf\u8ba1\u5b66\u610f\u4e49\u4e0a\uff0c\u4e00\u7c7b\uff08\u6216\u4e00\u4e9b\uff09\u5bf9\u7279\u5b9a\u836f\u7269\u6cbb\u7597\u6709\u5e94\u7b54\u6216\u8bca\u65ad\u4e3a\u7279\u5b9a\u75be\u75c5\uff0c\u53e6\u4e00\u7c7b\uff08\u6216\u53e6\u4e00\u4e9b\uff09\u5bf9\u7279\u5b9a\u836f\u7269\u6cbb\u7597\u65e0\u5e94\u7b54\u6216\u4e0d\u5b58\u5728\u7279\u5b9a\u75be\u75c5\u3002<\/div>\n
2. \u4e34\u5e8a\u6709\u7528\u6027\uff08Clincal Utility\uff09<\/div>\n
\u4f7f\u7528\u7279\u5b9a\u6807\u5fd7\u7269\u68c0\u6d4b\uff0c\u76f8\u5bf9\u4e8e\u4e0d\u7528\u6539\u68c0\u6d4b\uff0c\u53ef\u660e\u663e\u6539\u5584\u75be\u75c5\u7684\u7b5b\u67e5\u3001\u8bca\u65ad\u3001\u6cbb\u7597\u836f\u7269\u9009\u62e9\u3001\u6cbb\u7597\u76d1\u6d4b\u548c\u9884\u540e\u7b49\u3002<\/div>\n
\u00a0<\/div>\n
\u516b\u57ce\u5de1\u6f14 \u6df1\u5ea6\u4e86\u89e3\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b<\/div>\n
2018\u5e74\uff0c\u56fd\u5bb6\u836f\u54c1\u76d1\u7763\u7ba1\u7406\u5c40\u76f8\u7ee7\u6279\u51c6\u4e86MiSeqTMDx\u57fa\u56e0\u6d4b\u5e8f\u4eea\u548c\u591a\u6b3e\u80bf\u7624\u57fa\u56e0\u68c0\u6d4b\u8bd5\u5242\u76d2\uff0cNGS\u5728\u80bf\u7624\u9886\u57df\u7684\u4e34\u5e8a\u843d\u5730\u6709\u671b\u6bd4\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\u6709\u66f4\u5e7f\u9614\u7684\u5e02\u573a\u3002<\/div>\n
\u5bf9\u4e8e\u5e7f\u5927\u4e34\u5e8a\u533b\u751f\u53ca\u76f8\u5173\u65b9\uff1a<\/div>\n
\u5982\u4f55\u5b9e\u73b0\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u64cd\u4f5c\u7684\u89c4\u8303\u5316\uff1f<\/div>\n
\u5efa\u7acb\u5b9e\u9a8c\u5ba4\u7684NGS\u8d28\u91cf\u89c4\u8303\u7684\u6838\u5fc3\u8981\u7d20\u6709\u54ea\u4e9b\uff1f<\/div>\n
\u80bf\u7624\u7ec4\u7ec7\u548c\u8840\u6db2\u68c0\u6d4b\u7684\u6700\u4f73\u4e34\u5e8a\u5b9e\u8df5\u7ecf\u9a8c\u6709\u54ea\u4e9b\uff1f<\/div>\n
\u5bf9\u514d\u75ab\u7597\u6548\u7684\u7597\u6548\u9884\u6d4b\u6548\u679c\u7a76\u7adf\u5982\u4f55\uff1f\u00a0<\/div>\n
\u5728\u5fae\u751f\u7269\u6216\u8005\u5176\u4ed6\u9886\u57df\u7684\u7814\u7a76\u53ca\u524d\u666f\u53c8\u5982\u4f55\uff1f<\/div>\n
\u5e26\u7740\u8fd9\u4e9b\u7591\u95ee\uff0c\u501f\u52a9MiSeqTMDx\u57fa\u56e0\u6d4b\u5e8f\u4eea\u7b49\u6d4b\u5e8f\u65b9\u6848\u5728\u4e2d\u56fd\u83b7\u5f97\u6279\u51c6\u7684\u5951\u673a\uff0cIllumina\u7279\u522b\u4e3e\u529e\u201d\u8fc8\u5165\u65b0\u7eaa\u5143\u00b7NGS\u4e34\u5e8a\u57fa\u56e0\u6d4b\u5e8f\u8bba\u575b\u201d\uff0c\u7279\u9080\u4e34\u5e8a\u75c5\u7406\u53ca\u68c0\u9a8c\u7b49\u9886\u57df\u7ecf\u9a8c\u4e30\u5bcc\u7684\u6743\u5a01\u4e13\u5bb6\u5171\u540c\u4e3a\u5927\u5bb6\u5256\u7591\u89e3\u60d1\uff0c\u5e26\u6765\u524d\u6cbf\u89c2\u70b9\u548c\u4e00\u7ebf\u4f7f\u7528\u7ecf\u9a8c\u3002<\/div>\n
\u81ea2018\u5e7411\u67083\u65e5\u8d77\uff0c\u672c\u7cfb\u5217\u5de1\u8bb2\u6d3b\u52a8\u5c06\u5728\u5168\u56fd\u516b\u57ce\uff08\u54c8\u5c14\u6ee8\u3001\u91cd\u5e86\u3001\u897f\u5b89\u3001\u5317\u4eac\u3001\u5357\u4eac\u3001\u5e7f\u5dde\u3001\u4e0a\u6d77\u548c\u90d1\u5dde\uff09\u5faa\u5e8f\u5c55\u5f00\u3002<\/div>\n\n
\n
\"RmFicvQBAkgCMMfFwlJB7xFCM6XqKAHGMzzyNnxSDQ40tlJT9MC5MtkwuwNVBq2LZYCIj7JiczEbGI9JahQibzOqQ\"\/<\/figure><\/div>\n\n
llumina\u8bda\u9080\u60a8\u53c2\u52a0\u672c\u7cfb\u5217\u8bba\u575b8\u573a\u4f1a\u8bae\uff0c\u8ba9\u6211\u4eec\u5171\u540c\u5b66\u4e60\u3001\u4e00\u540c\u8fdb\u6b65\uff0c\u534f\u529b\u63a8\u52a8\u4e2d\u56fd\u7cbe\u51c6\u533b\u5b66\u7684\u5411\u524d\u53d1\u5c55\u3002<\/div>\n
\u5173\u6ce8\u4e0b\u9762\u7684\u4e8c\u7ef4\u7801<\/div>\n\n
\n
\"rzW8JOjDz0Cbw9stHxXoKMSEDKpR0KUSEKtnFbo5XwM77RAdqopVuibgtHAXacAVzvC5icBBdsqTMSOEXdscZcKA\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
\n
\"rzW8JOjDz0Cbw9stHxXoKMSEDKpR0KUSNDvdZukMeeTsTVrw94y1ksnCMSbeJuqibh5FYJrVOqAsgiaeXKMY8rCA\"\/<\/figure><\/div>\n\n<\/div>\n
\n\n
\n
\"rzW8JOjDz0Cbw9stHxXoKMSEDKpR0KUSHeVq2m0CD4k8PNic6uFZf9ib3GXibpuTRcMNaXLpslHgPHb4vswMXzerw\"\/<\/figure><\/div>\n\n<\/div>\n
<\/div>\n
<\/div>\n
\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
1. \u300aClinical Applications for Next-Generation Sequencing\u300b<\/div>\n
2. \u674e\u91d1\u660e\u300a\u5b9e\u73b0\u9ad8\u901a\u91cf\u6d4b\u5e8f\u4e34\u5e8a\u6709\u6548\u5e94\u7528\u9700\u5173\u6ce8\u7684\u6838\u5fc3\u95ee\u9898\u300b<\/div>\n
<\/div>\n
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\n\n
\n
\"RmFicvQBAkgCcBof1z1ClbNQiaYoYF4N7gVsxWuyhTN2ToHsTIIibjqZSY8qQTRqOvgWF821ubnyL2psrKQQH2zXQ\"\/<\/figure><\/div>","protected":false},"excerpt":{"rendered":"

NGS\u4e34\u5e8a\u57fa\u56e0\u6d4b\u8bba\u575b\u514d\u8d39\u901a\u9053<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"close","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[1902],"class_list":["post-9362","post","type-post","status-publish","format-standard","hentry","category-thinktank","tag-ngs"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9362","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=9362"}],"version-history":[{"count":3,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9362\/revisions"}],"predecessor-version":[{"id":14106,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9362\/revisions\/14106"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=9362"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=9362"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=9362"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}