{"id":9210,"date":"2019-09-25T00:01:40","date_gmt":"2019-09-24T16:01:40","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&#038;mid=100011221&#038;idx=1&#038;sn=45922783ac8789c66145d106cdd9a716&#038;chksm=6b715e625c06d7746d1a59c6d5a080ef2e9154cfc4eb5cce7cff4584afdbeea4e266c0406196#rd"},"modified":"2026-04-08T10:12:02","modified_gmt":"2026-04-08T02:12:02","slug":"484856","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2019\/09\/25\/484856\/","title":{"rendered":"\u539f\u521b\u6027\u6280\u672f\u5e73\u53f0\u521b\u9020\u4ef7\u503c\uff0c\u57fa\u56e0\u82af\u7247\u4e2d\u56fd\u5236\u9020"},"content":{"rendered":"<p><!-- wechat_content_hash: 008468deb6f26d85 --><\/p>\n<div>\u5173\u952e\u8bcd\/\u57fa\u56e0\u82af\u7247 \u4f2f\u79d1\u751f\u7269<\/div>\n<div>\u4eca\u5929\uff0c\u968f\u7740\u7cbe\u51c6\u533b\u7597\u5feb\u901f\u7684\u53d1\u5c55\uff0c\u5be1\u6838\u82f7\u9178\u82af\u7247\uff08Gene Panel\uff09\u5df2\u7ecf\u6210\u4e3a\u4e86\u5408\u6210\u751f\u7269\u5b66\u7684\u91cd\u8981\u5e94\u7528\u4e4b\u4e00\uff1b\u5728\u751f\u6b96\u3001\u9057\u4f20\u75be\u75c5\u3001\u80bf\u7624\u8bca\u65ad\u3001\u80bf\u7624\u65e9\u7b5b\u7b49\u533b\u5b66\u4e0e\u5065\u5eb7\u9886\u57df\u53d1\u6325\u7740\u81f3\u5173\u91cd\u8981\u7684\u4f5c\u7528\u3002\u4f2f\u79d1\u751f\u7269\u533b\u5b66\u79d1\u6280\u516c\u53f8\u662f\u201c\u4e2d\u56fd\u5236\u9020\u201d\u5c16\u7aef\u9ad8\u901a\u91cf\u6838\u9178\u5408\u6210\u6280\u672f\u521b\u65b0\u8005\uff0c\u62e5\u6709\u56fd\u5185\u72ec\u5bb6\u7684\u9ad8\u901a\u91cf\u6838\u9178\u5408\u6210\u4e0e\u4fee\u9970\u6280\u672f\uff0c\u81f4\u529b\u4e8e\u5efa\u7acb\u4ece\u5be1\u6838\u82f7\u9178\u3001DNA\/RNA\u5e8f\u5217\u7247\u6bb5\u5230\u67d3\u8272\u4f53\u57fa\u56e0\u7ec4\u6210\u548c\u6784\u5efa\u7684\u5168\u6d41\u7a0b\u5408\u6210\u751f\u7269\u5b66\u5e73\u53f0\u3002<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgD254N5ibF9aVBe00xta6TnlsiaVqqiclbXoVIfdBBuH6ybplStbq2O4NuQG22lF0oFicQ0l4mRu1MCyg\/640?wx_fmt=png\" alt=\"640?wx_fmt=png\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe1\uff1a\u4f2f\u79d1\u57fa\u56e0\u82af\u7247\u9879\u76ee\u7ecf\u9a8c;\u76ee\u524d\uff0c\u4f2f\u79d1\u5df2\u5b8c\u621027\u6b3e\u6db2\u76f8\u82af\u7247\u7684\u8bbe\u8ba1\u53ca\u5408\u6210\uff0c\u5e94\u7528\u4e8eNGS\u3001Nanopore\u5e73\u53f0\uff0c\u5305\u62ecDNA\u3001RNA\u548c\u7532\u57fa\u5316\u7b49\u591a\u79cd\u82af\u7247\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u76ee\u6807\u533a\u57df\u6355\u83b7\u6d4b\u5e8f\u6280\u672f\u4f5c\u4e3a\u7cbe\u51c6\u533b\u7597\u9886\u57df\u4e2d\u91cd\u8981\u7684\u5206\u5b50\u8bca\u65ad\u624b\u6bb5\uff0c\u5df2\u7ecf\u5f97\u5230\u4e34\u5e8a\u7684\u5e7f\u6cdb\u8ba4\u53ef\uff0c\u800c\u591a\u57fa\u56e0Panel\u5df2\u7ecf\u9010\u6b65\u6210\u4e3a\u4e34\u5e8a\u7684\u4e3b\u6d41\u3002\u57fa\u56e0Panel\u7684\u8bbe\u8ba1\u4e0e\u5408\u6210\uff0c\u662f\u4e00\u4e2a\u5bf9\u5408\u6210\u5de5\u827a\u8981\u6c42\u6781\u9ad8\u7684\u6280\u672f\uff0c\u76ee\u524d\u4e3b\u8981\u88ab\u6d77\u5916\u7684\u6838\u9178\u5408\u6210\u4f01\u4e1a\u5784\u65ad\uff0c\u5408\u6210\u5468\u671f\u4e0e\u6210\u672c\u4ee5\u53ca\u4ea7\u54c1\u6027\u80fd\u96be\u4ee5\u6ee1\u8db3\u5feb\u901f\u589e\u957f\u7684\u79d1\u7814\u3001\u4e34\u5e8a\u9700\u6c42\uff1b\u4ee4\u4eba\u6b23\u559c\u7684\u662f\uff0c\u901a\u8fc7\u5bf9\u5408\u6210\u3001\u4fee\u9970\u6280\u672f\u6301\u7eed\u521b\u65b0\u3001\u4e25\u683c\u628a\u63a7\u5408\u6210\u8d28\u91cf\u5e76\u4e0d\u65ad\u63d0\u5347\u82af\u7247\u8bbe\u8ba1\u6027\u80fd\uff0c\u4f2f\u79d1\u57fa\u56e0\u82af\u7247\u5df2\u7ecf\u6253\u7834\u8fd9\u79cd\u5784\u65ad\u5c40\u9762\uff0c\u4e3a\u5efa\u8bbe\u56fd\u5185\u57fa\u56e0\u82af\u7247\u7684\u5408\u6210\u6807\u51c6\u800c\u6301\u7eed\u52aa\u529b\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u4e00\u3001\u6781\u901f\u5408\u6210\u3001\u6027\u80fd\u5353\u8d8a\u00a0\u00a0<\/div>\n<div>\u76ee\u524d\uff0c\u4f2f\u79d1\u5df2\u7ecf\u80fd\u591f\u9ad8\u6548\u3001\u7a33\u5b9a\u7684\u5408\u6210\u957f\u8fbe150nt\u7684\u5be1\u6838\u82f7\u9178\uff0c\u4f2f\u79d1\u57fa\u56e0\u82af\u7247\u91c7\u7528\u751f\u7269\u7d20\u4fee\u9970\u7684120 nt \u5355\u94feDNA\u63a2\u9488\uff0c\u5176\u4e2d\uff0c\u62e5\u6709\u81ea\u4e3b\u77e5\u8bc6\u4ea7\u6743\u7684\u521b\u65b0\u578b\u751f\u7269\u7d20\u4fee\u9970\uff0c\u53ef\u4ee5\u8c03\u8282\u7a7a\u95f4\u4f4d\u963b\uff0c\u5728\u63d0\u5347\u63a2\u9488\u4e0eDNA\u7684\u4eb2\u548c\u80fd\u529b\u548c\u51cf\u5c11\u975e\u7279\u5f02\u7ed3\u5408\u65b9\u9762\u5177\u6709\u72ec\u7279\u7684\u4f18\u52bf\u3002\u4f2f\u79d1\u82af\u7247\u9002\u7528\u4e8e\u4e8c\u4ee3\u548c\u4e09\u4ee3\u6d4b\u5e8f\u5e73\u53f0\uff0c\u53ef\u5e94\u7528\u4e8e\u57fa\u56e0\u7ec4\u3001\u8f6c\u5f55\u7ec4\u548c\u7532\u57fa\u5316\u7684\u591a\u7ec4\u5b66\u7814\u7a76\u3002\u76ee\u524d\uff0c\u4f2f\u79d1\u5df2\u7ecf\u4e3a\u591a\u5bb6\u7528\u6237\u63d0\u4f9b\u4e86\u8fd130\u6b3e\u57fa\u56e0\u82af\u7247\uff0c\u5408\u6210\u65f6\u95f4\u5747\u63a7\u5236\u57287-15\u4e2a\u5de5\u4f5c\u65e5\u5185\u3001\u771f\u6b63\u5151\u73b0\u672c\u571f\u5316\u4f18\u52bf\uff0c\u52a0\u901f\u76f8\u5173\u9886\u57df\u7684\u79d1\u7814\u548c\u4e34\u5e8a\u8f6c\u5316\uff08\u56fe1\uff09\u3002\u4f2f\u79d1\u7684\u63a2\u9488\u53ef\u4ee5\u8986\u76d6\u591a\u5e73\u53f0\u3001\u591a\u79cd\u7c7b\u578b\uff1b\u9664\u4e86\u57fa\u56e0\u7ec4\u6355\u83b7\uff0c\u4f2f\u79d1\u7684\u8f6c\u5f55\u7ec4\u3001\u7532\u57fa\u5316\u7b49\u57fa\u56e0\u82af\u7247\uff0c\u4e5f\u5f97\u5230\u4e86\u7528\u6237\u7684\u5145\u5206\u8ba4\u53ef\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u6570\u636e\u8868\u73b0<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgD254N5ibF9aVBe00xta6Tnlvw73uAfDkg6gH5U67iaFDL3OmQu4Lm1iaXqkUbrekkprvw6icnHk0QnKg.png\" alt=\"RmFicvQBAkgD254N5ibF9aVBe00xta6Tnlvw73uAfDkg6gH5U67iaFDL3OmQu4Lm1iaXqkUbrekkprvw6icnHk0QnKg\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u00a0\u56fe2\uff1a\u4f2f\u79d1\u57fa\u56e0\u82af\u7247\u4f18\u5f02\u7684\u6355\u83b7\u8868\u73b0\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u5728\u7cbe\u51c6\u3001\u7a33\u5b9a\u7684\u5408\u6210\u5e73\u53f0\u548c\u9ad8\u6027\u80fd\u63a2\u9488\u8bbe\u8ba1\u8f6f\u4ef6\u7684\u652f\u6491\u4e0b\uff0c\u4f2f\u79d1\u57fa\u56e0\u82af\u7247\u7684\u6355\u83b7\u6570\u636e\u8868\u73b0\u975e\u5e38\u7a33\u5065\uff0c\u5982\u56fe2\u6240\u793a\uff0c\u5bf9\u4e8e\u5927\u5c0f\u4ece80Kb\u5230~2Mb\u7684DNA-Cap Panel\uff0c On-Target\u5747\u5927\u4e8e60%\uff0c\u8986\u76d6\u5747\u4e00\u6027\u65b9\u9762\uff0c0.2 X Mean Depth\u5927\u4e8e99%\uff0c0.5X Mean Depth\u5927\u4e8e93%\uff0c\u6bd4\u80a9\u5e76\u5728\u90e8\u5206\u53c2\u6570\u6307\u6807\u4e0a\u8d85\u8d8a\u53cb\u5546\u4ea7\u54c1\u3002\u503c\u5f97\u4e00\u63d0\u7684\u662f\uff0c\u5728\u4e0e\u53cb\u5546\u4ea7\u54c1\u7684\u6bd4\u8f83\u6d4b\u8bd5\u4e2d\uff0c\u4f2f\u79d1\u82af\u7247\u5728\u7279\u5f02\u6027\u3001\u5747\u4e00\u6027\u7b49\u591a\u4e2a\u53c2\u6570\u4e0a\uff0c\u5747\u8868\u73b0\u51fa\u660e\u663e\u4f18\u52bf\u3002<\/div>\n<div>\u00a0<\/div>\n<div>2.\u53cb\u5546\u4ea7\u54c1\u5bf9\u6bd4\u6d4b\u8bd5\uff08\u6d4b\u8bd5\u6570\u636e\u5747\u7531\u7528\u6237\u63d0\u4f9b\uff09<\/div>\n<div>\u2460 NGS ~1.5 Mb DNA-Cap Panel vs. \u53cb\u5546 R<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgD254N5ibF9aVBe00xta6Tnl7NkgAlDBTDbPic0PUe2sxaYsa647enPicZE1HZGhD9n4K4tst9umxw4g\/640?wx_fmt=png\" alt=\"640?wx_fmt=png\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe3\uff1a\u4f2f\u79d1\u4e0e\u53cb\u5546R\u7684\u540c\u6b3ePanel\u5728NGS\u5e73\u53f0\u4e0a\u7684\u7efc\u5408\u6bd4\u8f83\uff08\u6570\u636e\u5747\u4e3a\u6bd4\u4f8b\u5448\u73b0\uff09\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u4f2f\u79d1\u57287\u4e2a\u5de5\u4f5c\u65e5\u5185\u5b8c\u6210\u63a2\u9488\u5408\u6210\uff0c\u5728\u5feb\u901f\u4ea4\u4ed8\u7684\u540c\u65f6\u4e5f\u80fd\u4fdd\u8bc1\u4f18\u5f02\u7684\u6355\u83b7\u6027\u80fd\u3002\u9488\u5bf9\u4f2f\u79d1\u548c\u53cb\u5546R\u7684\u540c\u6b3ePanel\u5206\u522b\u5bf93\u79cd\u4e0d\u540c\u7684\u6837\u672c\u7c7b\u578b\u8fdb\u884c\u6355\u83b7\u6d4b\u5e8f\uff0c\u7ed3\u679c\u663e\u793a\u5728\u6355\u83b7\u7279\u5f02\u6027\u4e0a\uff0c\u4e24\u79cdPanel\u8868\u73b0\u76f8\u4f3c\uff0c\u65e0\u660e\u663e\u5dee\u5f02\uff1b\u8986\u76d6\u5747\u4e00\u6027\u4e0a\uff0c\u57280.2 X Mean Depth\u65f6\u4e8c\u8005\u8868\u73b0\u76f8\u8fd1\u3001\u800c\u5f53\u5230\u8fbe0.5 X Mean Depth\u65f6\uff0c\u8f83\u53cb\u5546R\u9ad8\u51fa\u8fd110%\uff0c\u4f18\u52bf\u660e\u663e\uff1b\u540c\u65f6\uff0c\u6df1\u5ea6\u5206\u5e03\u4e5f\u663e\u793a\uff0c\u4f2f\u79d1Panel\u7684\u6df1\u5ea6\u5206\u5e03\u66f4\u4e3a\u96c6\u4e2d\u3001\u5747\u5300\u3002\u5373\u5728\u8986\u76d6\u5747\u4e00\u6027\u65b9\u9762\u4f2f\u79d1Panel\u8868\u73b0\u66f4\u4e3a\u4f18\u5f02\uff08\u56fe3\uff09\u3002<\/div>\n<div>\u2461 Nanopore ~4 Mb DNA-Cap Panel vs. \u53cb\u5546 T\u00a0<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgD254N5ibF9aVBe00xta6TnlXVQUHU6sJd4HRR4u8EtdZQicq9UNg6tRG0ViaticcMSas4RGQnJV1DaaQ\/640?wx_fmt=png\" alt=\"640?wx_fmt=png\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe4\uff1a\u4f2f\u79d1\u4e0e\u53cb\u5546T\u7684\u540c\u6b3ePanel\u5728Nanopore\u5e73\u53f0\u4e0a\u7684\u6355\u83b7\u7279\u5f02\u6027\u6bd4\u8f83\uff08\u6570\u636e\u5747\u4e3a\u6bd4\u4f8b\u5448\u73b0\uff09\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u4f17\u6240\u5468\u77e5 Nanopore\u6d4b\u5e8f\u5728CNV\/SV\u53d8\u5f02\u3001Repeat Region\u4ee5\u53ca\u75c5\u6bd2\u6574\u5408\u7b49\u65b9\u9762\u7684\u68c0\u6d4b\u4e2d\u5177\u6709\u660e\u663e\u4f18\u52bf\uff0c\u7531\u4e8e\u8bfb\u957f\u66f4\u957f\uff0cNanopore\u7684\u57fa\u56e0\u82af\u7247\u8bbe\u8ba1\u4e5f\u5b8c\u5168\u4e0d\u540c\u4e8eNGS\uff0c\u4f2f\u79d1\u9488\u5bf9\u4e09\u4ee3\u5e73\u53f0\u6355\u83b7\u5f00\u53d1\u4e86\u76f8\u5e94\u7684\u63a2\u9488\u8bbe\u8ba1\u8f6f\u4ef6\u3002\u76ee\u524d\uff0c\u5df2\u7ecf\u6210\u529f\u5b8c\u62103\u6b3eDNA-Cap Panel\u7684\u8bbe\u8ba1\u5408\u6210\uff0c\u4ee5\u5176\u4e2d\u4e00\u6b3e~4Mb Panel\u4e3a\u4f8b\uff08\u56fe4\uff09\uff0c\u5728\u4e0e\u53cb\u5546T\u7684\u6bd4\u8f83\u6d4b\u8bd5\u4e2d\uff0c\u4f2f\u79d1Panel\u7684\u6355\u83b7\u7279\u5f02\u6027\u662f\u53cb\u5546T\u7684~2.7\u500d\uff0c\u8868\u73b0\u7a81\u51fa\uff1b\u540c\u65f6\uff0c\u4f2f\u79d1Panel\u4e5f\u4fdd\u6301\u7740\u826f\u597d\u7684\u5747\u4e00\u6027\u3002\u7efc\u4e0a\uff0c\u5728Nanopore\u6d4b\u5e8f\u5e73\u53f0\u4e0a\uff0c\u4f2f\u79d1Panel\u7684\u6355\u83b7\u7279\u5f02\u6027\u5b8c\u5168\u8d85\u8d8a\u53cb\u5546T\u3002<\/div>\n<div>\u00a0\u4e8c\u3001\u7acb\u8db3\u54c1\u8d28\u3001\u8d34\u8fd1\u9700\u6c42\u00a0\u00a0<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgD254N5ibF9aVBe00xta6TnlGJKxUrUu0IwlH3VaQ6Y9hZfmrnWicDrZUn2eibxZyAyyXiaohWctbZRrg.png\" alt=\"RmFicvQBAkgD254N5ibF9aVBe00xta6TnlGJKxUrUu0IwlH3VaQ6Y9hZfmrnWicDrZUn2eibxZyAyyXiaohWctbZRrg\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe5\uff1a\u63a2\u9488\u5408\u6210\u548c\u8bbe\u8ba1\u662f\u82af\u7247\u6027\u80fd\u7684\u4fdd\u969c\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u57fa\u56e0\u82af\u7247\u4ea7\u54c1\u7684\u5f00\u53d1\u6d89\u53ca\u591a\u5b66\u79d1\u4ea4\u53c9\u878d\u5408\uff0c\u5305\u62ec\u7269\u7406\u3001\u5316\u5b66\u3001\u751f\u7269\u5b66\u3001\u6570\u5b66\u7b49\u591a\u4e2a\u5b66\u79d1\u7684\u7efc\u5408\u5e94\u7528\u3002\u5177\u4f53\u800c\u8a00\uff0c\u4ea7\u54c1\u6027\u80fd\u7684\u9ad8\u4f4e\u4e3b\u8981\u7531\u4e24\u65b9\u9762\u51b3\u5b9a\uff1a<\/div>\n<div>1\uff09\u63a2\u9488\u7684\u5408\u6210\u8d28\u91cf\uff0c\u5305\u62ec\u751f\u7269\u7d20\u4fee\u9970\u6548\u7387\uff0c\u78b1\u57fa\u9519\u8bef\u7387\u3001\u63a2\u9488\u62f7\u8d1d\u6570\u5747\u4e00\u6027\u7b49\uff1b<\/div>\n<div>2\uff09\u63a2\u9488\u8bbe\u8ba1\uff0c\u4f8b\u5982\u76ee\u6807\u533a\u57df\u662f\u5426\u5168\u90e8\u8986\u76d6\uff0c\u63a2\u9488\u8986\u76d6\u533a\u57df\u5927\u5c0f\u3001\u63a2\u9488\u7279\u5f02\u6027\u5982\u4f55\u7b49\u7b49\u3002<\/div>\n<div>\u5b83\u4eec\u5171\u540c\u51b3\u5b9a\u4e86\u57fa\u56e0\u82af\u7247\u4ea7\u54c1\u7684\u6570\u636e\u8868\u73b0\uff0c\u5176\u8bc4\u4f30\u53c2\u6570\u53c8\u5305\u62ec\u6570\u636e\u5197\u4f59\u5ea6\uff08Duplication\uff09\u3001\u76ee\u6807\u533a\u57df\u8986\u76d6\u7387\u3001\u6355\u83b7\u7279\u5f02\u6027\uff08\u4e5f\u79f0\u4e3a\u4e2d\u9776\u7387\u3001On-target\uff09\u3001\u8986\u76d6\u5747\u4e00\u6027\uff08Uniformity\uff09\u7b49\u7b49\u3002<\/div>\n<div>\u8fd9\u4e9b\u6307\u6807\u662f\u4fdd\u8bc1\u6700\u7ec8\u4e34\u5e8a\u68c0\u6d4b\u7684\u9ad8\u51c6\u786e\u6027\u548c\u4f4e\u6210\u672c\u7684\u57fa\u7840\uff08\u56fe5\uff09\u3002\u56e0\u6b64\uff0c\u4f2f\u79d1\u5c06\u5b8c\u5907\u7684\u63a2\u9488\u8d28\u91cf\u4fdd\u969c\u4f53\u7cfb\u5efa\u7acb\u548c\u9ad8\u6027\u80fd\u63a2\u9488\u8bbe\u8ba1\u8f6f\u4ef6\u5f00\u53d1\u4f5c\u4e3a\u4e3b\u8981\u7a81\u7834\u53e3\uff0c\u4e0d\u65ad\u63d0\u5347\u82af\u7247\u6027\u80fd\uff1b\u540c\u65f6\uff0c\u4ece\u6838\u9178\u6742\u4ea4\u7684\u7269\u7406\/\u5316\u5b66\u539f\u7406\u51fa\u53d1\uff0c\u4e3a\u4e0d\u540c\u68c0\u6d4b\u9700\u6c42\u63d0\u4f9b\u591a\u79cd\u89e3\u51b3\u65b9\u6848\u3002<\/div>\n<div>1.\u5168\u9762\u8d28\u63a7\u4f53\u7cfb\u00a0<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/mmbiz.qpic.cn\/mmbiz_png\/RmFicvQBAkgD254N5ibF9aVBe00xta6TnluuP6iapOUCoqPweiaqKKf09ziamHmSE7Kaqk3PpKwZ3ibV71SLUTusPlug\/640?wx_fmt=png\" alt=\"640?wx_fmt=png\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe6\uff1a\u4f2f\u79d1\u63a2\u9488\u8d28\u63a7\u4f53\u7cfb\u6280\u672f\u6d41\u7a0b\u793a\u610f\u56fe\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u8d28\u91cf\u63a7\u5236\u662f\u4ea7\u54c1\u6027\u80fd\u7684\u6839\u672c\u4fdd\u969c\uff0c\u4e5f\u662f\u4f01\u4e1a\u751f\u5b58\u548c\u53d1\u5c55\u7684\u751f\u547d\u7ebf\u3002\u6839\u636e\u81ea\u8eab\u5408\u6210\u5e73\u53f0\u7279\u70b9\uff0c\u9488\u5bf9\u63a2\u9488\u7684\u751f\u7269\u7d20\u4fee\u9970\u6548\u7387\/\u7a33\u5b9a\u6027\u3001\u78b1\u57fa\u5408\u6210\u51c6\u786e\u6027\u3001\u63a2\u9488\u5b8c\u6574\u5ea6\u7b49\u53c2\u6570\u3001\u4f2f\u79d1\u5de7\u5999\u7684\u5229\u7528\u591a\u79cd\u5206\u5b50\u751f\u7269\u5b66\u6280\u672f\u548c\u68c0\u6d4b\u5e73\u53f0\uff0c\u5efa\u7acb\u4e86\u884c\u4e4b\u6709\u6548\u7684\u8d28\u63a7\u6d41\u7a0b\uff0c\u4e3a\u4ea7\u54c1\u8d28\u91cf\u63d0\u4f9b\u4e86\u6709\u529b\u4fdd\u969c\uff08\u56fe6\uff09\u3002\u4f8b\u5982\uff0c\u57fa\u4e8e\u81ea\u4e3b\u7814\u53d1\u7684\u5355\u94feDNA PCR-Free\u5efa\u5e93\u6d41\u7a0b\uff0c\u4f7f\u7528\u591a\u79cd\u5408\u6210\u6807\u51c6\u54c1\u548c\u591a\u4e2a\u4eba\u7c7b\u57fa\u56e0\u7ec4\u6807\u51c6\u54c1\u7684\u6d4b\u5e8f\u6570\u636e\u4f5c\u4e3a\u57fa\u7ebf\u8fdb\u884c\u6821\u6b63\uff0c\u5e76\u4e0e\u6355\u83b7\u53c2\u6570\u5efa\u7acb\u76f8\u5173\u6027\uff0c\u4ece\u800c\u5bf9\u63a2\u9488\u62f7\u8d1d\u6570\u5747\u4e00\u6027\u548c\u5b8c\u6574\u5ea6\u53c2\u6570\u8fdb\u884c\u8d28\u63a7\u3002<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgD254N5ibF9aVBe00xta6TnlOLbILDyfYlEmoZvibgKG1ef4nzOVf2pEMTov1S2dVnEVQu4VExfCaHQ.png\" alt=\"RmFicvQBAkgD254N5ibF9aVBe00xta6TnlOLbILDyfYlEmoZvibgKG1ef4nzOVf2pEMTov1S2dVnEVQu4VExfCaHQ\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe7\uff1a\u4f2f\u79d1Panel\u6355\u83b7\u8d28\u63a7\u6d41\u7a0b\u548c\u62a5\u544a\u793a\u610f\u56fe\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u540c\u65f6\uff0c\u4f2f\u79d1\u5c06\u5bf9\u5408\u6210\u540e\u7684DNA-Cap Panel\u8fdb\u884c\u6355\u83b7\u6d4b\u5e8f\uff08NGS\/Nanopore\uff09\uff0c\u4e3a\u5ba2\u6237\u63d0\u4f9b\u8be6\u5c3d\u7684\u6355\u83b7\u6d4b\u5e8f\u8d28\u63a7\u62a5\u544a\uff08\u56fe7\uff09\uff1b\u503c\u5f97\u4e00\u63d0\u7684\u662f\uff0c\u5728\u4eca\u5e74\u5e74\u5e95\uff0c\u9488\u5bf9\u4e0d\u540c\u7c7b\u578b\u7684Panel\uff0c\u4f2f\u79d1\u5c06\u4f7f\u7528\u591a\u79cd\u6807\u51c6\u54c1\u5168\u9762\u5347\u7ea7\u6355\u83b7\u8d28\u63a7\u6d41\u7a0b\uff0c\u4e3a\u7528\u6237\u63d0\u4f9b\u66f4\u4e3a\u6df1\u5165\u7684\u4ea7\u54c1\u6027\u80fd\u68c0\u6d4b\u3002<\/div>\n<div>2.\u9ad8\u6027\u80fd\u63a2\u9488\u8bbe\u8ba1\u8f6f\u4ef6\u00a0<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgD254N5ibF9aVBe00xta6TnlNeZTJz0zwZd835GHGA2L0iaEuBFoaIssFuJBwtFotRiaJbwQdx6XnZnQ.png\" alt=\"RmFicvQBAkgD254N5ibF9aVBe00xta6TnlNeZTJz0zwZd835GHGA2L0iaEuBFoaIssFuJBwtFotRiaJbwQdx6XnZnQ\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe8\uff1a\u4f2f\u79d1\u63a2\u9488\u8bbe\u8ba1\u8f6f\u4ef6\u5f00\u53d1\u6d41\u7a0b\u793a\u610f\u56fe\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u57fa\u4e8e\u81ea\u4e3b\u7684\u9ad8\u901a\u91cf\u5408\u6210\u5e73\u53f0\uff0c\u4f2f\u79d1\u5c06\u4e00\u8f6e\u7814\u53d1\u6d4b\u8bd5\u538b\u7f29\u81f37\u5929\u5de6\u53f3\uff0c\u5728\u5927\u91cf\u539f\u59cb\u6355\u83b7\u6570\u636e\u4e2d\uff0c\u901a\u8fc7\u673a\u5668\u5b66\u4e60\u5bf9\u591a\u53c2\u6570\u8fdb\u884c\u8ba1\u7b97\u673a\u6a21\u62df\u548c\u5b9e\u9a8c\u9a8c\u8bc1\uff08\u56fe8\uff09\uff0c\u4ee5\u66f4\u9ad8\u7684\u6570\u636e\u6709\u6548\u6027\u548c\u68c0\u6d4b\u7075\u654f\u5ea6\u4e3a\u76ee\u6807\uff0c\u7efc\u5408\u8003\u8651\u76ee\u6807\u533a\u57dfGC\u542b\u91cf\u3001\u63a2\u9488\u4fa7\u7ffc\u6548\u5e94\u3001\u6742\u4ea4\u89e3\u94fe\u70ed\u52a8\u529b\u5b66\u7279\u6027\u3001\u5e8f\u5217\u590d\u6742\u5ea6\u3001\u7279\u5f02\u6027\u7b49\u53c2\u6570\u5e76\u7ed3\u5408\u57fa\u56e0\u53d8\u5f02\u7279\u5f81\uff0c\u5efa\u7acb\u4e86\u4e00\u5957\u9ad8\u6027\u80fd\u63a2\u9488\u8bbe\u8ba1\u8f6f\u4ef6\uff0c\u9002\u7528\u4e8eDNA\u3001RNA\u3001\u7532\u57fa\u5316\u3001\u75c5\u6bd2\u6355\u83b7\u7b49\u5404\u79cd\u6a21\u5757\uff0c\u53ef\u4ee5\u4e3a\u7528\u6237\u63d0\u4f9b\u8be6\u7ec6\u4e0e\u5b8c\u6574\u7684\u751f\u7269\u4fe1\u606f\u5206\u6790\u548c\u57fa\u56e0\u82af\u7247\u63a2\u9488\u8bbe\u8ba1\u3002<\/div>\n<div>3.\u4ee5\u5e94\u7528\u4e3a\u5bfc\u5411\u3001\u6ee1\u8db3\u4e34\u68c0\u9700\u6c42\u00a0<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgD254N5ibF9aVBe00xta6Tnl6lr3Yiae9NeibuaIibmibh9icRyxISfC6b3Hm1hR8zl35TXbkFynMqgHVbQ.png\" alt=\"RmFicvQBAkgD254N5ibF9aVBe00xta6Tnl6lr3Yiae9NeibuaIibmibh9icRyxISfC6b3Hm1hR8zl35TXbkFynMqgHVbQ\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe9\uff1aA\u3001\u4f2f\u79d1\u4f53\u7cfb\u77ed\u65f6\u95f4\u6742\u4ea4\u7684\u6570\u636e\u8868\u73b0\uff0c4h\u6742\u4ea4\u662f\u7279\u5f02\u6027\u548c\u5747\u4e00\u6027\u7684\u5e73\u8861\u70b9\uff0c\u6742\u4ea4\u65f6\u95f4\u8d8a\u957f\uff0c\u975e\u7279\u5f02\u7ed3\u5408\u8d8a\u591a\uff0cOn-target\u8d8a\u4f4e\uff0c\u4f46\u8986\u76d6\u5747\u4e00\u6027\u8d8a\u597d\uff0c\u5e76\u57284h\u5de6\u53f3\u7a33\u5b9a\uff1bB\u3001\u63d0\u9ad8\u6311\u6218\u533a\u57df\u68c0\u6d4b\u7075\u654f\u5ea6\u7684\u9014\u5f84\uff0c\u5305\u62ec\u52a0\u5165\u63a2\u9488\u4fee\u9970\u3001\u589e\u52a0\u63a2\u9488\u591a\u6837\u6027\u4e0e\u6587\u5e93\u63d2\u5165\u7247\u6bb5\u957f\u5ea6\u4ee5\u53ca\u8865\u5145\u7a81\u53d8\u578b\u63a2\u9488\u7b49\u3002\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u77ed\u5468\u671f\u3001\u9ad8\u901a\u91cf\u662f\u6742\u4ea4\u6355\u83b7\u6280\u672f\u8fd1\u9636\u6bb5\u53d1\u5c55\u7684\u91cd\u8981\u65b9\u5411\uff0c\u5feb\u901f\u6742\u4ea4\u4f53\u7cfb\u4e0e\u7b80\u6377\u3001\u7a33\u5b9a\u7684\u6742\u4ea4\u6d41\u7a0b\u662f\u5b9e\u73b0\u524d\u4e24\u70b9\u7684\u57fa\u7840\uff0c\u4f8b\u5982\uff0c1h\u6216\u8005\u66f4\u77ed\u7684\u6742\u4ea4\u65f6\u95f4\uff0c\u5bf9\u6e29\u5ea6\u66f4\u52a0\u8010\u53d7\u7684\u6e05\u6d17\u4f53\u7cfb\u7b49\u7b49\uff1b\u6b64\u5916\uff0c\u8fdb\u4e00\u6b65\u63d0\u5347\u6311\u6218\u533a\u57df\u7684\u68c0\u6d4b\u7075\u654f\u5ea6\u4e5f\u662f\u4e34\u5e8a\u5e94\u7528\u4e4b\u6025\u9700\uff0c\u6bd4\u5982\uff0c\u77ed\u7247\u6bb5\u548c\/\u6216\u591a\u7a81\u53d8\u6837\u672c\uff08cfDNA\u3001FFPE\uff09\u7684InDel\u3001Fusion\u68c0\u6d4b\u5177\u6709\u6311\u6218\u6027\uff0c\u5176\u6839\u672c\u539f\u56e0\u662f\u6838\u9178\u7247\u6bb5\u4e4b\u95f4\u4eb2\u548c\u529b\u4e0b\u964d\uff0c\u96be\u4ee5\u6742\u4ea4\u540c\u65f6\u66f4\u5bb9\u6613\u88ab\u6e05\u6d17\u3002\u4f2f\u79d1\u4e5f\u6b63\u5728\u5f00\u5c55\u9488\u5bf9\u6027\u7684\u7814\u53d1\u5de5\u4f5c\uff0c\u5e0c\u671b\u4ece\u63a2\u9488\u8bbe\u8ba1\u3001\u4fee\u9970\u5408\u6210\u3001\u6742\u4ea4\u8bd5\u5242\u4f18\u5316\u7b49\u65b9\u9762\u8fdb\u884c\u4f18\u5316\uff0c\u4e3a\u7528\u6237\u5e26\u53bb\u5b8c\u6574\u7684\u89e3\u51b3\u65b9\u6848\u3002<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgD254N5ibF9aVBe00xta6Tnl1dVxddAq80gBy9M4oUv5icpMNER1YDialXtjhpG6WlYOAfSVYxEDBN8Q.png\" alt=\"RmFicvQBAkgD254N5ibF9aVBe00xta6Tnl1dVxddAq80gBy9M4oUv5icpMNER1YDialXtjhpG6WlYOAfSVYxEDBN8Q\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe10\uff1a\u4f2f\u79d1\u4f53\u7cfb\u77ed\u65f6\u95f4\u6742\u4ea4\u7684\u6570\u636e\u7ec6\u8282\uff0c\u5bf9\u4e8e80 Kb\u7684DNA-Cap Panel\uff0c\u6742\u4ea41-16 h\uff0c\u7279\u5f02\u6027\u9010\u6e10\u964d\u4f4e[64%\uff081hr\uff09\u300161%\uff084hr\uff09\u300159%\uff0816hr\uff09](A)\u3001\u5747\u4e00\u6027\u9010\u6e10\u589e\u52a0[0.5X Mean Depth\uff0c95.3%\uff081hr\uff09\u300197.0%\uff084hr\uff09\u300198.0%\uff0816hr\uff09]\uff1b\u5176\u4e2d\uff0c\u5747\u4e00\u6027\u6307\u6807\u57284h\u8fbe\u5230\u7a33\u5b9a\uff0c\u4e0e16h\u8868\u73b0\u76f8\u4f3c\uff0c\u7b26\u5408\u9884\u671f\uff08B\uff09\u3002\u8fdb\u4e00\u6b65\u5206\u6790\u4e0e\u80bf\u7624\u9776\u5411\u6cbb\u7597\u76f8\u5173\u7684\u57fa\u56e0\u4f4d\u70b9\uff086\u57fa\u56e0\u300158\u4e2a\u4f4d\u70b9\uff09\u7684\u6d4b\u5e8f\u6df1\u5ea6\uff0c\u6742\u4ea41h\u548c4h\u65f6\uff0c\u4e0a\u8ff0\u4f4d\u70b9\u6df1\u5ea6\u76f8\u8fd1\uff0c\u5747\u7a33\u5b9a\u5206\u5e03\u57280.8-1.5 X\u5e73\u5747\u6df1\u5ea6\u7684\u533a\u95f4\u5185\uff08C\u3001D\uff09\uff08\u6765\u6e90\/\u4f2f\u79d1\u751f\u7269\uff09<\/div>\n<div>\u9700\u8981\u5f3a\u8c03\u7684\u662f\uff0c\u5bf9\u4e8e\u6311\u6218\u533a\uff0c\u901a\u8fc7\u6355\u83b7\u8868\u73b0\u6216\u8986\u76d6\u6df1\u5ea6\u5e76\u4e0d\u80fd\u51c6\u786e\u5224\u65ad\u68c0\u6d4b\u7075\u654f\u5ea6\uff1b\u56e0\u6b64\uff0c\u867d\u7136\u6d4b\u8bd5\u6570\u636e\u663e\u793a\uff0c\u77ed\u65f6\u95f4\u6742\u4ea4\u5bf9\u5c0fPanel\u7684\u57fa\u672c\u6355\u83b7\u8868\u73b0\u4ee5\u53ca\u91cd\u8981\u533a\u57df\u7684\u8986\u76d6\u5ea6\u5e76\u4e0d\u4f1a\u4ea7\u751f\u8f83\u5927\u5f71\u54cd\uff08\u56fe10\uff09\uff0c\u4f46\u662f\u5bf9\u4e8e\u5177\u4f53\u7684\u7a81\u53d8Calling\u4ecd\u7136\u9700\u8981\u8fdb\u4e00\u6b65\u5b9e\u9a8c\u9a8c\u8bc1\uff0c\u7279\u522b\u662f\u6db2\u4f53\u6d3b\u68c0\u4e2dInDel\u3001Fusion\u7b49\u53d8\u5f02\u68c0\u6d4b\u3002<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgD254N5ibF9aVBe00xta6TnlI6ZOww4xyDv5cAvSCrFNTnD6OtkDFSJHP2DJmUFALuS1ic48Y9MQpSQ.png\" alt=\"RmFicvQBAkgD254N5ibF9aVBe00xta6TnlI6ZOww4xyDv5cAvSCrFNTnD6OtkDFSJHP2DJmUFALuS1ic48Y9MQpSQ\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe11\uff1aA\u3001\u6839\u636e\u7528\u6237\u63d0\u51fa\u76841X+2X Tiling\u65b9\u5f0f\u8fdb\u884c\u8bbe\u8ba1\u5408\u6210\uff0c\u6355\u83b7\u6d4b\u8bd5\u6570\u636e\u663e\u793a\uff0c2X 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