\u00a0<\/div>\n
\u7f16\u8f91 | July\u5ba1\u6838 | Barney<\/div>\n
\u5173\u952e\u8bcd | NGS \u6280\u672f\u7efc\u8ff0<\/div>\n
\u3010\u6ce8\u3011\u672c\u6587\u662f\u4f5c\u8005\u4e8e2020\u5e74\u6267\u7b14\uff0c\u53d1\u8868\u4e8e\u300a\u751f\u7269\u5de5\u5b66\u4f1a\u5fd7\u300b2021\u5e745\u670825\u65e5\uff0c\u65e8\u5728\u8bb0\u5f55\u5f53\u4e0bNGS\u73b0\u72b6\uff1b\u4ee5\u4e0b\u5185\u5bb9\u7f16\u8bd1\u539f\u6587\uff0c\u7565\u6709\u5220\u51cf\uff0c\u4ec5\u505a\u79d1\u666e\u548c\u7814\u7a76\u53c2\u8003\uff09<\/div>\n\n
\n![\"RmFicvQBAkgDOKeBVv2PQBQ24Mia6b75KjlqvLZOsqDmd34qh8HWGkXU6RFMqjiarZPRZhq7RrYS5mibCc6k048HPw\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgDOKeBVv2PQBQ24Mia6b75KjlqvLZOsqDmd34qh8HWGkXU6RFMqjiarZPRZhq7RrYS5mibCc6k048HPw.jpeg\")
<\/figure><\/div>\n\n
<\/figure><\/div>\n\n\u63d2\u56fe\uff08\u6765\u6e90\/\u7f51\u7edc\u6388\u6743\uff09<\/div>\n
\u81ea2005\u5e74\u4e0b\u4e00\u4ee3\u6d4b\u5e8f\u6280\u672f\uff08Next Generation Sequencing\uff0cNGS\uff09\u95ee\u4e16\u4ee5\u6765\uff0c\u4e0d\u65ad\u6f14\u53d8\u51fa\u5404\u79cd\u7c7b\u578b\uff0c\u5174\u8870\u4ea4\u66ff\u3002<\/div>\n
\u00a0<\/div>\n
\u4f8b\u5982\uff0c\u6765\u81ea454 Life Sciences\u516c\u53f8\u7684\u7126\u78f7\u9178\u6d4b\u5e8f\u6cd5\uff0c\u662f\u4e16\u754c\u4e0a\u9996\u4e2a\u8fdb\u5165\u5e02\u573a\u7684\u4e0b\u4e00\u4ee3\u6d4b\u5e8f\u6280\u672f\uff0c\u4f46\u5982\u4eca\u516c\u53f8\u548c\u6280\u672f\u90fd\u5df2\u9c9c\u6709\u8eab\u5f71\u3002\u6b64\u5916\uff0c\u8fd8\u6709\u4e00\u4e9b\u6280\u672f\u53ea\u88ab\u90e8\u5206\u673a\u6784\u5f15\u8fdb\u548c\u4f7f\u7528\uff0c\u800c\u6709\u4e9b\u6280\u672f\u5927\u8086\u5ba3\u79f0\u7740\u6765\u5e74\u53d1\u5e03\u4f46\u6700\u7ec8\u672a\u80fd\u95ee\u4e16\uff0c\u8fd9\u6837\u7684\u60c5\u51b5\u4e0d\u5728\u5c11\u6570\u3002<\/div>\n
\u6d4b\u5e8f\u9886\u57df\u51fa\u73b0\u4e86\u5982\u6b64\u591a\u7684\u6280\u672f\u6d88\u4ea1\u7b97\u662f\u5341\u5206\u7f55\u89c1\u3002\u800c\u80fd\u591f\u5728\u8fd9\u573a\u6280\u672f\u7ade\u4e89\u4e2d\u80dc\u51fa\u7684\u6280\u672f\uff0c\u5982\u4eca\u5df2\u6210\u4e3a\u751f\u547d\u79d1\u5b66\u4e0d\u53ef\u6216\u7f3a\u7684\u5de5\u5177\u4e4b\u4e00\uff0c\u9891\u7e41\u51fa\u73b0\u5728\u77e5\u540d\u7684\u5b66\u672f\u671f\u520a\u4e2d\u3002<\/div>\n
\u00a0<\/div>\n
\u5728\u540d\u79f0\u65b9\u9762\uff0c\u76ee\u524d\u666e\u904d\u8ba4\u4e3a\u201c\u4e0b\u4e00\u4ee3\u6d4b\u5e8f\u6280\u672f\u201d\u8fd9\u4e00\u672f\u8bed\u5df2\u7136\u4e0d\u5408\u9002\uff0c\u4e5f\u6709\u79f0\u8be5\u6280\u672f\u4e3a\u5927\u89c4\u6a21\u5e73\u884c\u6d4b\u5e8f\u6280\u672f\uff08Massively-Parallel Sequencing\uff0cMPS\uff09\u6216\u9ad8\u901a\u91cf\u6d4b\u5e8f\u6280\u672f\uff08High-Throughput Sequencing\uff0cHTS\uff09\uff0c\u672c\u6587\u4ecd\u91c7\u7528NGS\u7684\u8bf4\u6cd5\uff0c\u662f\u5e0c\u671b\u5c06\u5b83\u4f5c\u4e3a\u6539\u53d8\u57fa\u56e0\u67d0\u4e2a\u65f6\u4ee3\u7684\u8c61\u5f81\u7b26\u53f7\u6765\u4f7f\u7528\uff0c\u6211\u4eec\u77e5\u9053\uff0c\u5728NGS\u6280\u672f\u51fa\u73b0\u540e\uff0c\u7ec4\u5b66\u9886\u57df\u7684\u6d4b\u5e8f\u65b9\u6cd5\u53d1\u751f\u4e86\u5de8\u5927\u9769\u65b0\u3002<\/div>\n
\u00a0<\/div>\n
\u77ed\u8bfb\u957f\u6d4b\u5e8f\u6280\u672f\u53d1\u5c55<\/div>\n
454\u7126\u78f7\u9178\u6d4b\u5e8f\u6280\u672f\u662f\u521d\u4ee3\u7684NGS\u6280\u672f\uff0c\u4ee5454 Genome Sequencer 20 (GS20)\u8fd9\u4e00\u578b\u53f7\u6d4b\u5e8f\u4eea\u4e0a\u5e02\uff0c\u5e8f\u5217\u8bfb\u957f\u5e73\u5747\u4e3a100bp(bp\uff1a\u78b1\u57fa\u957f\u5ea6)\uff0c\u5e8f\u5217\u6570\u636e\u91cf\u7ea6\u4e3a50Mb(Mb\uff1a100\u4e07\u78b1\u57fa)\u3002<\/div>\n
\u00a0<\/div>\n
\u5176\u540e\uff0cRoche\u6536\u8d2d\u4e86454 Life Sciences\u7ee7\u7eed\u8fdb\u884c\u5f00\u53d1\u5de5\u4f5c\uff0c\u4f46\u57282016\u5e74\u5ba3\u5e03\u9000\u51fa\u5e02\u573a\u3002\u5927\u962a\u5927\u5b66\u5fae\u751f\u7269\u75c5\u7814\u7a76\u6240\u7684\u9644\u5c5e\u673a\u6784\u9057\u4f20\u4fe1\u606f\u5b9e\u9a8c\u4e2d\u5fc3\u9996\u6b21\u5f15\u8fdb\u7684NGS\u4eea\u5668\u662f\u5c31\u662f\u684c\u9762\u578b\u5c0f\u578b\u4eea\u5668454GSJr\u3002\u8be5\u4eea\u5668\u4e8e2010\u5e74\u7ecf\u5f15\u8fdb\uff0c\u8ddd\u5176\u9000\u51fa\u5e02\u573a\u4ec5\u77ed\u77ed6\u5e74\u3002<\/div>\n
\u00a0<\/div>\n
2006\u5e74\u5de6\u53f3\uff0cGenomeAnalyzer (GA)\u95ee\u4e16\uff0c\u8be5\u673a\u578b\u91c7\u7528\u4e86\u7531Solexa\u516c\u53f8\u5f00\u53d1\u7684Sequence-By-Synthesis (SBS)\u6cd5\uff0c\u8be5\u6280\u672f\u9996\u6b21\u5b9e\u73b0\u4e86Gb\u89c4\u6a21\u7684\u6570\u636e\u91cf\u3002Solexa\u540e\u88abIllumina\u6240\u6536\u8d2d\uff0cGA\u901a\u8fc7HiSeq\u7cfb\u5217\u5f97\u4ee5\u4f20\u627f\u4e0b\u6765\u3002<\/div>\n
\u00a0<\/div>\n
\u53e6\u5916\uff0c\u5584\u7528\u6851\u683c\u6cd5\u7684Applied Biosystems\uff08ABI\uff09\u516c\u53f8\u4e5f\u7814\u53d1\u51fa\u4e86Sequence By Oligo Ligation and Detection\uff08SOLiD\uff09\u6280\u672f\uff0c\u5f53\u65f6Roche\u3001Illumina\u3001ABI\u4e09\u5de8\u5934\u4e4b\u95f4\u5c55\u5f00\u4e86\u6fc0\u70c8\u7684\u7814\u53d1\u7ade\u4e89\u3002\u800c\u540e\uff0cABI\u6210\u4e3a\u4e86Life Technologies\u516c\u53f8\u7684\u4e00\u90e8\u5206\uff0c\u6295\u5165\u4f7f\u7528\u4e86Ion PGM\u548cIon Proton \u7b49\u65b0\u578b\u534a\u5bfc\u4f53\u6d4b\u5e8f\u6280\u672f\u3002<\/div>\n
\u00a0<\/div>\n
\u7ecf\u8fc7\u51e0\u756a\u6fc0\u70c8\u7684\u6280\u672f\u7ade\u4e89\uff0c\u76ee\u524dIllumina\u516c\u53f8\u63a8\u51fa\u7684SBS\u65b9\u6cd5\u6700\u4e3a\u5e7f\u6cdb\u4f7f\u7528\u3002\u4e0a\u8ff0\u4e24\u79cd\u6280\u672f\u7684\u89e3\u8bfb\u5e8f\u5217\u957f\u5ea6\u90fd\u6bd4\u73b0\u6709\u7684\u6851\u683c\u6d4b\u5e8f\u6cd5\u77ed\uff0c\u56e0\u6b64\u4e5f\u88ab\u79f0\u4f5c\u77ed\u8bfb\u957f\u6d4b\u5e8f\u6280\u672f\u3002\u4ee5\u6851\u683c\u6d4b\u5e8f\u6cd5\u4e3a\u7b2c\u4e00\u4ee3\uff0c\u8fd9\u4e9b\u77ed\u8bfb\u957f\u6d4b\u5e8f\u6280\u672f\u88ab\u79f0\u4f5c\u7b2c\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u3002<\/div>\n
\u00a0<\/div>\n
\u7b2c\u4e8c\u4ee3\u5e8f\u5217\u901a\u8fc7\u5728\u5fae\u89c2\u89c4\u6a21\u7a7a\u95f4\u5185\u8fdb\u884cPCR\u53cd\u5e94\u6765\u653e\u59271\u5206\u5b50\u7684DNA\uff0c\u57fa\u4e8e\u5927\u89c4\u6a21\u5e73\u884c\u7684\u53cd\u5e94\u4ea7\u751f\u5de8\u5927\u7684\u6570\u636e\u91cf\uff0c\u56e0\u6b64\u88ab\u79f0\u4f5c\u5927\u89c4\u6a21\u5e73\u884c\u6d4b\u5e8f\u6280\u672f\u3002\u8fd9\u79cd\u5927\u89c4\u6a21\u5e73\u884c\u6027\u9010\u5e74\u63d0\u9ad8\u3002Illumina\u6700\u65b0\u673a\u578bNovaSeq6000\u5b9e\u73b0\u4e86Tb\u7ea7\u522b\u7684\u6570\u636e\u91cf\u3002\u5728\u8fd915\u5e74\u95f4\u4ea7\u751f\u4e8610\u76846\u6b21\u65b9\u7684\u5de8\u5927\u53d8\u5316\u3002<\/div>\n
\u00a0<\/div>\n
\u5f53454\u7126\u78f7\u9178\u6d4b\u5e8f\u6280\u672f\u95ee\u4e16\u5e76\u968f\u4e4b\u63a8\u51fa\u5176\u5c0f\u578b\u673a454GSJr\u65f6\uff0c\u6709\u8bc4\u4ef7\u79f0\u53ef\u4ee5\u901a\u8fc7\u8be5\u9879\u6280\u672f\u5b9e\u73b0\u57fa\u56e0\u89e3\u8bfb\u7684\u5e73\u6c11\u5316\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u8fc7\u53bb\u53ea\u6709\u90e8\u5206\u5927\u578b\u673a\u5668\u624d\u80fd\u5b8c\u6210\u7684\u57fa\u56e0\u7ec4\u89e3\u6790\uff0c\u5982\u4eca\u4e00\u822c\u7684\u7814\u7a76\u5ba4\u4e5f\u53ef\u4ee5\u5b8c\u6210\u4e86\u3002<\/div>\n
\u00a0<\/div>\n
\u76f8\u6bd4\u800c\u8a00\uff0cNovaSeq\u8fdb\u884c\u4eba\u7c7b\u5168\u5916\u663e\u5b50\u7ec4\u5206\u6790\u65f6\uff0c\u4e00\u6b21\u6d4b\u5e8f\u8fd0\u884c\u53ef\u5206\u6790200\u4e2a\u6837\u672c\uff0c\u5bf9\u4e8e\u7528\u9014\u5e7f\u6cdb\u7684RNA-Seq\u5219\u53ef\u5206\u6790400\u4e2a\u6837\u672c\uff0c\u4ec5\u7528\u4e24\u5929\u5de6\u53f3\u7684\u65f6\u95f4\u5c31\u80fd\u8f93\u51fa\u6570\u636e\uff0c\u8fd9\u5bf9\u4e8e\u5355\u4e2a\u7814\u7a76\u5ba4\u7684\u9700\u8981\u6765\u770b\u5df2\u7136\u4e0d\u53ef\u80fd\uff0c\u4ee5\u90e8\u5c40\u3001\u5927\u5b66\u4e3a\u5355\u4f4d\u4e5f\u5341\u5206\u56f0\u96be\u3002\u4e3a\u6b64\uff0c\u9057\u4f20\u4fe1\u606f\u5b9e\u9a8c\u4e2d\u5fc3\u6b63\u5728\u5e7f\u6cdb\u62db\u52df\u56fd\u5185\u5916\u7528\u6237\u6765\u63a8\u8fdb\u673a\u5668\u7684\u5171\u540c\u4f7f\u7528\u3002\u6700\u8fd1\uff0c\u4e0d\u4ec5\u662f\u5b66\u672f\u673a\u6784\uff0c\u666e\u901a\u4f01\u4e1a\u4e5f\u613f\u63a5\u53d7\u9080\u8bf7\u6765\u4fc3\u8fdb\u4ea7\u5b66\u5408\u4f5c\uff0c\u4f46\u76ee\u524d\u4ecd\u662f\u4e3a\u6ee1\u8db3\u4e00\u53f0NovaSeq\u7684\u9700\u6c42\u800c\u7cbe\u75b2\u529b\u5c3d\u7684\u72b6\u51b5\u3002<\/div>\n
\u00a0<\/div>\n
\u53e6\u5916\uff0cBroad Institute\u3001Sanger Institute\u3001BGI\u7b49\u5927\u578b\u5206\u6790\u4e2d\u5fc3\u62e5\u6709\u8fbe\u5230\u4e86\u6570\u5341PB\u89c4\u6a21\u5b58\u50a8\u7cfb\u7edf\u7684\u5927\u578b\u8ba1\u7b97\u673a\u8bbe\u5907\uff0c\u5e76\u4f7f\u7528\u591a\u53f0NovaSeq\uff0c\u6bcf\u5929\u90fd\u80fd\u751f\u4ea7\u51fa\u5927\u7ec4\u5b66\u6570\u636e\u3002\u57fa\u56e0\u7ec4\u89e3\u6790\u518d\u6b21\u590d\u5174\u65f6\u4ee3\uff0c\u88ab\u89e3\u6790\u7684\u6837\u672c\u6570\u4e5f\u8ba1\u5212\u8fbe\u5230\u6570\u5341\u4e07\u89c4\u6a21\u3002\u4e8b\u5b9e\u4e0a\uff0c\u8ba1\u5212\u5728\u8377\u5170\u8fdb\u884c\u7684\u4e00\u9879\u540d\u4e3alifelines\u7684\u9879\u76ee\u4e2d\uff0c\u9884\u8ba1\u901a\u8fc7\u5b8f\u57fa\u56e0\u7ec4\u9e1f\u67aa\u6cd5\u5bf910\u4e07\u4eba\u7684\u80a0\u9053\u7ec6\u83cc\u8fdb\u884c\u5927\u89c4\u6a21\u7fa4\u4f53\u7814\u7a76\u5206\u6790\u3002\u5728\u8bba\u6587\u4e2d\u5df2\u7ecf\u6210\u5343\u6210\u4e07\u5173\u4e8e\u201cPopulation-based\u201d\u7684\u7814\u7a76\uff0c\u53ef\u4ee5\u9884\u89c1\u5230\u4eca\u540e\u57fa\u56e0\u7814\u7a76\u6570\u636e\u5c06\u6108\u53d1\u5927\u578b\u5316\u3002\u5e0c\u671b\u5728\u65e5\u672c\u4e5f\u5efa\u7acb\u8d77\u80fd\u591f\u4e0e\u4e16\u754c\u5927\u578b\u5206\u6790\u4e2d\u5fc3\u6297\u8861\u7684\u8bbe\u65bd\u3002<\/div>\n
\u00a0<\/div>\n
\u957f\u8bfb\u957f\u6d4b\u5e8f\u6280\u672f\u7684\u53d1\u5c55<\/div>\n
\u76f8\u8f83\u4e8e\u6b64\u524d\u6240\u9610\u8ff0\u7684\u77ed\u8bfb\u957f\u6d4b\u5e8f\u6280\u672f\uff0c2010\u5e74\u5de6\u53f3\uff0cPacific Biosciences\u516c\u53f8\u5f00\u53d1\u7684Single Molecule Real Time Sequencing\uff08SMRT\uff09\u6280\u672f\u5728\u89e3\u8bfb\u5e8f\u5217\u957f\u5ea6\u4e0a\u5b9e\u73b0\u4e86\u98de\u8dc3\u6027\u7684\u5ef6\u4f38\u8fdb\u6b65\u3002\u4ece\u8be5\u6280\u672f\u95ee\u4e16\u4e4b\u521d\uff0c\u5c31\u56e0\u58f0\u79f0\u53ef\u4ee5\u8d85\u8d8a\u6851\u683c\u6d4b\u5e8f\u6cd5\u7684\u8bfb\u957f\u8fbe\u5230\u6570kb\u800c\u9707\u60ca\u5168\u7403\u3002<\/div>\n
\u00a0<\/div>\n
2013\u5e74\u5de6\u53f3\uff0cPacBio RSII\u7ecf\u53d1\u5e03\uff0c\u5b9e\u8d28\u4e0a\u7684\u5e7f\u6cdb\u5229\u7528\u5c31\u662f\u4ece\u6b64\u65f6\u5f00\u59cb\u7684\u3002\u8be5\u6280\u672f\u57fa\u4e8e\u5b9e\u65f6\u76d1\u6d4b1\u5206\u5b50\u805a\u5408\u9176\u7684\u5ef6\u4f38\u53cd\u5e94\u7684\u539f\u7406\uff0c\u7531\u4e8e\u4e0e\u7b2c\u4e8c\u4ee3\u5fae\u578bPCR\u4e3a\u57fa\u7840\u7684\u539f\u7406\u5177\u6709\u9769\u65b0\u6027\u7684\u4e0d\u540c\uff0c\u56e0\u6b64\u4e5f\u88ab\u79f0\u4f5c\u662f\u7b2c\u4e09\u4ee3\u6d4b\u5e8f\u6280\u672f\u3002<\/div>\n
\u00a0<\/div>\n
\u5f53\u524dSMRT\u6280\u672f\u7684\u6700\u65b0\u673a\u578bSequel II\u7684\u6027\u80fd\u5177\u6709\u663e\u8457\u7684\u63d0\u9ad8\uff0c\u6bcfSMRT1\u7ec6\u80de\u5355\u4f4d\u4e3a150Gb\uff0c\u5e73\u5747\u8bfb\u957f\u5206\u5e03\u7ea6\u4e3a50kb\u3002\u4e0a\u5e02\u5f53\u65f6\u8be5\u673a\u578b\u5728\u89e3\u8bfb\u5e8f\u5217\u7684\u51c6\u786e\u6027\u8f83\u4f4e\uff0c\u88ab\u89c6\u4f5c\u4e00\u5927\u95ee\u9898\u3002\u901a\u8fc7\u4f7f\u7528\u6570\u6b21\u91cd\u590d\u89e3\u8bfb\u73af\u72b6\u5316DNA\u5e93\u7684Circular Consensus Sequencing\uff08CCS\uff09\u7684\u65b9\u6cd5\u540e\uff0c\u4e00\u4e2a\u5206\u5b50\u7531\u6765\u53ef\u8fbe99%\u4ee5\u4e0a\u51c6\u786e\u5ea6\u7684\u9ad8\u7cbe\u5ea6\u8bfb\u957f(HiFi\u8bfb\u957f)\u5f97\u4ee5\u5b9e\u73b0\uff0c\u901a\u8fc7\u7531\u6570\u4e2aSubreads\u5e8f\u5217(CLR)\u5f62\u6210\u5171\u6709\u5e8f\u5217\u7684\u65b9\u6cd5\uff0c\u636e\u8bf4\u53ef\u4ee5\u8fbe\u523099.999%\u4ee5\u4e0a\u7684\u51c6\u786e\u5ea6\u3002<\/div>\n
\u00a0<\/div>\n
\u968f\u7740SMRT\u6280\u672f\u7684\u51fa\u73b0\uff0cde novo assembly\uff08\u65e0\u53c2\u7167\u5e8f\u5217\u7684\u57fa\u56e0\u7ec4\u89e3\u6790\uff09\u9886\u57df\u6700\u5148\u4ea7\u751f\u4e86\u9769\u65b0\u6027\u53d8\u5316\u3002\u867d\u7136\u968f\u7740\u7b2c\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u7684\u53d1\u5c55\u5404\u79cd\u57fa\u56e0\u89e3\u6790\u65b9\u9762\u53d6\u5f97\u4e86\u4e00\u5b9a\u8fdb\u5c55\uff0c\u4f46\u5373\u4fbf\u662f\u5fae\u5c0f\u7684\u5fae\u751f\u7269\u57fa\u56e0\u7ec4\uff0c\u4e5f\u4e0d\u53ef\u80fd\u5b8c\u5168\u83b7\u5f97\u957f\u57fa\u56e0\u7ec4\u5e8f\u5217\u3002\u56e0\u4e3a\u77ed\u8bfb\u957f\u7684\u6570\u767e\u4e2a\u78b1\u57fa\u957f\u5ea6\u65e0\u6cd5\u5b8c\u5168\u786e\u5b9a\u57fa\u56e0\u7ec4\u4e2d\u591a\u6b21\u91cd\u590d\u51fa\u73b0\u7684\u6838\u7cd6\u4f53\u6392\u5217\u7b49\u4f4d\u7f6e\u5173\u7cfb\u3002\u901a\u8fc7SMRT\u6280\u672f\u957f\u8bfb\u957f\u6d4b\u5e8f\u624d\u5f97\u8d85\u8d8a\u6838\u7cd6\u4f53\u6392\u5217\u5168\u957f\u3001\u5e76\u6839\u636e\u6838\u7cd6\u4f53\u4e24\u7aef\u7684\u5e8f\u5217\u4fe1\u606f\u786e\u5b9a\u7edd\u5bf9\u4f4d\u7f6e\uff08\u56fe1\uff0c\u53c2\u8003\u6587\u732e1\uff09\u3002<\/div>\n\n
\n![\"RmFicvQBAkgDOKeBVv2PQBQ24Mia6b75KjxnbDkrx5hozaaub5LrzCxnajQ777RniaNaWqJGAethaJHxjavpmdGUA\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgDOKeBVv2PQBQ24Mia6b75KjxnbDkrx5hozaaub5LrzCxnajQ777RniaNaWqJGAethaJHxjavpmdGUA.png\")
<\/figure><\/div>\n\n
<\/figure><\/div>\n\n\u56fe1\uff1a\u5229\u7528\u7b2c\u4e8c\u4ee3\u548c\u7b2c\u4e09\u4ee3\u6d4b\u5e8f\u6280\u672f\u5bf9\u526f\u6eb6\u8840\u5f27\u83cc\u80a0\u708e\u57fa\u56e0\u7ec4\u8fdb\u884c\u57fa\u56e0\u7ec4\u5206\u6790\u6bd4\u8f83\u3002\u4ece\u5185\u4fa7\u5f00\u59cb\uff0c\u662f\u901a\u8fc7454\u7126\u78f7\u9178\u6d4b\u5e8f\u3001Ion PGM\u3001Illumina\u3001PacBio\u5404\u9879\u6280\u672f\u5f97\u51fa\u7684\u91cd\u53e0\u7fa4\u5e8f\u5217\u5728\u53c2\u8003\u57fa\u56e0\u7ec4\u4e0a\u7684\u7ed3\u679c\u3002\u73af\u72b6\u7684\u7f3a\u53e3\u662f\u65e0\u6cd5\u89e3\u8bfb\u7684\u5730\u65b9\u3002\u7f3a\u53e3\u4e0e\u4ece\u5916\u4fa7\u5f80\u91cc\u7b2c4\u4e2a\u6240\u793a\u7684rRNA\u7684\u4f4d\u7f6e\u4e00\u81f4\u3002\u6839\u636ePacBio\u7684\u5206\u6790\u7ed3\u679c\uff0c\u4e00\u6761\u91cd\u53e0\u7fa4\u53d8\u6210\u4e86\u67d3\u8272\u4f53\uff08\u6765\u6e90\/\u751f\u7269\u5de5\u5b66\u4f1a\u5fd7\uff09<\/div>\n
\u00a0<\/div>\n
\u53e6\u5916\uff0cOxford Nanopore Technologies\uff08ONT\uff09\u516c\u53f8\u7814\u53d1\u7684Nanopore\u6d4b\u5e8f\u6280\u672f\u4e5f\u5c5e\u4e8e\u957f\u8bfb\u957f\u6d4b\u5e8f\u6280\u672f\u3002\u8be5\u6280\u672f\u901a\u8fc7DNA\u957f\u94fe\u5206\u5b50\u7a7f\u8fc7\u7531\u7ec6\u83cc\u6bd2\u7d20\u4ea7\u751f\u7684\u819c\u86cb\u767d\u8d28\u7684\u7ec6\u5b54\u7ed3\u6784(Nanopore)\u65f6\u7684\u79bb\u5b50\u7535\u6d41\u7684\u53d8\u5316\u6765\u89e3\u6790\u6838\u9178\u7684\u79cd\u7c7b\u3002<\/div>\n
\u00a0<\/div>\n
\u6851\u683c\u6cd5\u548cNGS\u6280\u672f\u4ece\u6765\u90fd\u662f\u4f9d\u8d56\u4e8e\u805a\u5408\u9176\u7684\u5ef6\u4f38\u53cd\u5e94\uff0c\u800c\u901a\u8fc7\u8be5\u6280\u672f\u5f97\u4ee5\u4e0d\u4f9d\u8d56\u805a\u5408\u9176\u5c31\u80fd\u83b7\u5f97\u78b1\u57fa\u5e8f\u5217\u4fe1\u606f\uff0c\u56e0\u6b64\u53ef\u4ee5\u5c06\u5176\u79f0\u4f5c\u662f\u7b2c\u56db\u4ee3\u6280\u672f\u3002\u5b83\u7684\u6700\u957f\u8bfb\u957f\u8d85\u8fc74 Mb\uff0c\u4f3c\u4e4e\u53ea\u8981DNA\u8d28\u91cf\u8db3\u591f\u597d\uff0c\u65e0\u8bba\u591a\u5927\u90fd\u80fd\u8fdb\u884c\u89e3\u6790\u3002\u56e0\u6b64\uff0c\u5982\u4f55\u5236\u5907\u957fDNA\u5206\u5b50\u8fd9\u4e00\u6709\u5173DNA\u63d0\u53d6\u7684\u95ee\u9898\u5c31\u53d8\u5f97\u81f3\u5173\u91cd\u8981\u3002<\/div>\n
\u00a0<\/div>\n
\u8fd9\u9879\u6280\u672f\u7684\u4e00\u5927\u7279\u70b9\u662f\u8bbe\u5907\u7684\u5c0f\u578b\u5316\u3002\u6700\u521d\u53d1\u5e03\u7684MinION\u53ea\u9700\u624b\u638c\u5927\u5c0f\u7684\u5c3a\u5bf8\u5c31\u80fd\u8fdb\u884c\u7ec6\u83cc\u57fa\u56e0\u7ec4\u89e3\u6790\uff0c\u56e0\u6b64\u5168\u4e16\u754c\u7684\u7814\u7a76\u4eba\u5458\u53ef\u4ee5\u5c06\u5176\u643a\u5e26\u5916\u51fa\uff0c\u968f\u4e4b\u5c31\u662f\u5426\u53ef\u5c06\u8bbe\u5907\u643a\u5e26\u81f3\u539f\u59cb\u68ee\u6797\u3001\u5c71\u4e2d\u7b49\u6781\u7aef\u56f0\u96be\u7684\u573a\u6240\u8fdb\u884c\u6d4b\u5e8f\u800c\u5c55\u5f00\u4e86\u6fc0\u70c8\u89d2\u9010\u3002\u73b0\u5728\u5df2\u7ecf\u53d1\u5c55\u5230\u53ef\u4ee5\u643a\u5e26\u81f3\u5b87\u5b99\u7a7a\u95f4\u7ad9\u3002<\/div>\n
\u00a0<\/div>\n
\u5982\u4eca\uff0c\u4e0d\u4ec5\u662fMinION\uff0c\u5927\u578b\u673a\u5668PromethION\u548c\u9010\u6b65\u5c0f\u578b\u5316\u7684Flongle\u7b49\u65b0\u8bbe\u5907\u4e0d\u65ad\u63a8\u51fa\u3002\u5982\u4e0a\u6240\u8ff0\uff0cONT\u516c\u53f8\u7684\u7814\u53d1\u80fd\u529b\u5341\u5206\u60ca\u4eba\uff0cBasecaller\uff08\u53d8\u6362\u5e8f\u5217\u7684\u8f6f\u4ef6\uff09\u6bcf\u9694\u51e0\u4e2a\u6708\u5c31\u8fdb\u884c\u66f4\u65b0\uff0c\u89e3\u6790\u7cbe\u5ea6\u4e5f\u5b9e\u73b0\u4e86\u65e5\u65b0\u6708\u5f02\u7684\u6539\u5584\u3002\u73b0\u5728\u7684MinION\u8f93\u51fa\u7684\u539f\u59cb\u6570\u636e\u7684\u901f\u5ea6\u53ef\u8fbe\u5230\u6bcf\u5c0f\u65f6\u7ea620GB\u3002\u6362\u7b97\u6210\u6bcf\u5206\u949f\u7ea6\u4e3a330MB \/min\uff0c\u4e0e4K\u89c6\u9891\uff08350Mb \/min)\uff09\u7684\u4fe1\u606f\u91cf\u76f8\u5f53\u3002\u867d\u7136\u5916\u89c2\u5c0f\u5de7\uff0c\u4f46\u5904\u7406\u5176\u8f93\u51fa\u7684\u5927\u6570\u636e\u8fd8\u9700\u5927\u578b\u8ba1\u7b97\u673a\u624d\u884c\u3002\u00a0<\/div>\n
\u00a0<\/div>\n
\u7b14\u8005\u5e0c\u671b\u5229\u7528\u8fd9\u79cd\u4f53\u79ef\u5c0f\u4e14\u89e3\u6790\u901f\u5ea6\u5feb\u7684\u4f18\u70b9\uff0c\u5c06\u5176\u5e94\u7528\u4e8e\u75c5\u539f\u4f53\u7684\u5f53\u573a\u8bc6\u522b\u3002\u8fd9\u79cd\u5c0f\u578b\u88c5\u7f6e\u4e5f\u4f7f\u5f97\u8bbe\u7f6e\u5728\u533b\u9662\u7684\u68c0\u67e5\u5ba4\u6210\u4e3a\u53ef\u80fd\u3002\u4f46\u662f\uff0c\u7531\u4e8e\u914d\u5907\u5927\u578b\u8ba1\u7b97\u673a\u6bd4\u8f83\u56f0\u96be\uff0c\u6240\u4ee5\u9700\u5c06\u89e3\u8bfb\u540e\u7684\u5e8f\u5217\u4fe1\u606f\u53d1\u9001\u5230\u8fdc\u8ddd\u79bb\u7684\u5927\u578b\u8ba1\u7b97\u673a\uff0c\u7531\u8be5\u8ba1\u7b97\u673a\u8fdb\u884c\u9ad8\u7ea7\u5206\u6790\uff0c\u7136\u540e\u5c06\u7ed3\u679c\u53cd\u9988\u81f3\u7528\u6237\u7ec8\u7aef\uff08\u56fe2\uff09\u3002\u5b9e\u9645\u4e0a\uff0c\u6709\u5173\u901a\u8fc7\u4e91\u8ba1\u7b97\u8bc6\u522b\u75c5\u539f\u4f53\u7684\u5e94\u7528\uff0c\u4ee5\u975e\u7ed3\u6838\u6027\u5206\u679d\u6746\u83cc\u75c5\uff08NTM\uff09\u4e3a\u4f8b\u5f00\u59cb\u5b9e\u9a8c\uff0c\u5728\u533b\u9662\u7684\u68c0\u67e5\u5ba4\u91cc10\u5206\u949f\u7684\u6d4b\u5e8f\u65f6\u95f4\u4e2d\u5b9e\u65f6\u540c\u6b65\u8fdb\u884c\u78b1\u57fa\u5e8f\u5217\u89e3\u6790\uff0c\u4fbf\u53ef\u4ee5\u7504\u522b\u83cc\u79cd\uff08\u53c2\u8003\u6587\u732e2\uff09\u3002<\/div>\n\n
\n![\"RmFicvQBAkgDOKeBVv2PQBQ24Mia6b75KjticfmoRWn9diaMmc5epXTgCEQWGjTLORzyBKQgAfibNXute9NtYGx7teA\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgDOKeBVv2PQBQ24Mia6b75KjticfmoRWn9diaMmc5epXTgCEQWGjTLORzyBKQgAfibNXute9NtYGx7teA.png\")
<\/figure><\/div>\n\n
<\/figure><\/div>\n\n\u56fe2\uff1a\u5f00\u53d1\u4e2d\u7684\u975e\u7ed3\u6838\u6027\u5206\u679d\u6746\u83cc\u75c5\uff08NTM\uff09\u7684\u8fc5\u901f\u5f53\u573a\u8bc6\u522b\u6cd5\u3002\u4ece\u68c0\u67e5\u5ba4\u57f9\u517b\u7684\u5206\u5c90\u6746\u83cc\u4e2d\u63d0\u53d6DNA\uff0c\u5728\u68c0\u67e5\u5ba4\u5b9e\u65bdNanopore\u6d4b\u5e8f\uff0c\u901a\u8fc7\u4e91\u7aef\u5b9e\u65f6\u5206\u6790\uff08\u6765\u6e90\/\u751f\u7269\u5de5\u5b66\u4f1a\u5fd7\uff09<\/div>\n
\u00a0<\/div>\n
\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u6280\u672f<\/div>\n
\u8fd1\u5e74\u6765\uff0c\u534e\u5927\u96c6\u56e2\u65d7\u4e0b\u7684\u5b50\u516c\u53f8\u534e\u5927\u667a\u9020\u6240\u5f00\u53d1\u7684DNBSEQ\u6d4b\u5e8f\u6280\u672f\u53d1\u5c55\u8fc5\u731b\u3002\u8fd9\u9879\u6280\u672f\u539f\u662f\u7531\u4e8e2006\u5e74\u6210\u7acb\u7684\u7f8e\u56fdComplete Genomics\u516c\u53f8\u6240\u5f00\u53d1\u3002\u534e\u5927\u96c6\u56e2\u4e8e2013\u5e74\u6536\u8d2d\u4e86\u8be5\u516c\u53f8\uff0c\u6b64\u540e\u7ed3\u5408\u81ea\u8eab\u6280\u672f\u9010\u6e10\u53d1\u5c55\u58ee\u5927\u3002<\/div>\n
\u00a0<\/div>\n
\u5176\u539f\u7406\u5c5e\u4e8e\u7b2c\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\uff0c\u901a\u8fc7\u5c06\u73af\u72b6\u5316\u76841\u5206\u5b50DNA\u6a21\u677f\u653e\u5927\u5230\u88ab\u79f0\u4f5c\u201cDNA\u7eb3\u7c73\u7403 (DNB)\u201d\u7684\u7403\u72b6\u7684DNA\u9ad8\u5206\u5b50\u4e2d\u8fdb\u884c\u89e3\u6790\u3002<\/div>\n
\u00a0<\/div>\n
\u76ee\u524d\uff0c\u65e5\u672c\u5df2\u7ecf\u5f15\u8fdb\u4e86\u591a\u53f0\u534e\u5927\u667a\u9020MGISEQ-2000RS\u57fa\u56e0\u6d4b\u5e8f\u4eea\u3002\u503c\u5f97\u4e00\u63d0\u7684\u662f\uff0c\u8be5\u673a\u5668\u62e5\u6709Illumina\u516c\u53f8\u5c1a\u672a\u5b9e\u73b0\u7684\u6280\u672f\uff0c\u53ef\u5b9e\u73b0\u4ee5\u5f80\u4ee5300bp\u4e3a\u6781\u9650\u7684\u5355\u7aef400bp\u5e8f\u5217\u7684\u6d4b\u5e8f\u6a21\u5f0f\u3002\u6b64\u5916\uff0c\u534e\u5927\u667a\u9020\u8fd8\u63a8\u51fa\u4e86\u57fa\u56e0\u6d4b\u5e8f\u4eeaDNBSEQ-T7\uff0c\u5728\u957f\u671f\u4ee5\u6765Illumina\u516c\u53f8\u72ec\u5360\u9ccc\u5934\u7684\u77ed\u8bfb\u957f\u4e1a\u754c\uff0c\u534e\u5927\u667a\u9020\u4fe8\u7136\u5177\u6709\u6e38\u620f\u98a0\u8986\u8005\u7684\u8d8b\u52bf\u3002<\/div>\n
\u00a0<\/div>\n
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\u00a0<\/div>\n
\u5c55\u671b\u672a\u6765<\/div>\n\n
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<\/figure><\/div>\n\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
1) Miyamoto, M. et al.: BMC Genomics, 15, 699 (2014).\u00a0<\/div>\n
2) Matsumoto, Y. et al.: Emerg. Microbes Infect., 8, 1043 (2019).\u00a0<\/div>\n
3) Hahn, O. et al.: Nucleic Acids Res., 49, e11 (2021).\u00a0<\/div>\n
4) Di Ventra, M. and Taniguchi, M.: Nat. Nanotechnol., 11, 117 (2016). 5) Goto, Y. et al.: J. Hum. Genet., 65, 69 (2020).<\/div>\n\n
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<\/figure><\/div>\n\n
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\u00a0<\/div>\n
\u6269\u5c55\u9605\u8bfb<\/div>\n
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