{"id":11606,"date":"2017-05-15T20:01:27","date_gmt":"2017-05-15T12:01:27","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&mid=504149687&idx=1&sn=028eb11c0e899154b667e58af5c26559&chksm=7371968e44061f9805a116eebae6aa562b96bda1bea0d577542b8511c48bac6cf64e16d251d5#rd"},"modified":"2026-04-09T09:52:56","modified_gmt":"2026-04-09T01:52:56","slug":"999954","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2017\/05\/15\/999954\/","title":{"rendered":"Bionano\u521b\u59cb\u4eba\u66f9\u6db5\uff1a\u5f25\u8865NGS\u4e4b\u201c\u75db\u201d\u7684\u5355\u5206\u5b50\u957f\u7247\u6bb5\u56fe\u8c31\u6280\u672f | \u300a\u5927\u5496\u8bba\u5065\u300b\u603b\u7b2c35\u7bc7"},"content":{"rendered":"

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\u00a0<\/div>\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
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\uff08\u56fe4\uff1aMike Austin \u535a\u58eb\u624b\u6301Bionano\u65e9\u671f\u7eb3\u7c73\u5fae\u6d41\u4f53\u82af\u7247\u6676\u5706\uff0c\u7ecf\u4f5c\u8005\u6388\u6743\u53d1\u5e03\uff09<\/div>\n
7\u3001Bionano\u56fe\u8c31\u6280\u672f\u7684\u7279\u70b9<\/div>\n
\u8fd9\u4e2a\u5e73\u53f0\u6709\u4e00\u4e2a\u975e\u5e38\u91cd\u8981\u7684\u7279\u70b9\uff0c\u5728\u6211\u4eec\u8bbe\u8ba1\u7684\u521d\u59cb\uff0c\u6211\u7684\u54f2\u5b66\u5c31\u662f\u8981\u4fdd\u6301\u8fd9\u4e2a\u4fe1\u606f\u7684\u6700\u539f\u59cb\u5316\uff0c\u5c31\u662fmost native informationwith least sample prep artificial interference \uff0c\u6240\u4ee5\u5728\u6211\u4eec\u8fd9\u4e2a\u8fc7\u7a0b\u4e2d\u9996\u5148\u662f\u6700\u957f\u7684\u5355\u5206\u5b50\u7684\uff0c\u6ca1\u6709PCR \u6269\u589e\uff0c\u4e5f\u4e0d\u505a\u6587\u5e93\uff0c \u6700\u5c0f\u5316\u6742\u4fe1\u53f7\u7684\u5e72\u6270\uff0c\u6240\u4ee5\u6570\u636e\u662f\u5b8c\u5168\u3001\u9ad8\u4fdd\u771f\uff0c\u800c\u4e14\u6700\u5c0f\u6216\u6ca1\u6709\u504f\u5411\u7684\uff0c\u7531\u539f\u59cb\u56fe\u50cf\u6570\u636e\u5f97\u5230\u4e0d\u662f\u63a8\u7b97\u51fa\u6765\u7684\uff0c\u8fd9\u662f\u975e\u5e38\u91cd\u8981\u7684\u4e00\u4e2a\u4fe1\u606f\u3002 \u5728\u73b0\u5728\u5f88\u591a\u751f\u7269\u6837\u54c1\u5236\u5907\u4e2d\uff0c\u5176\u5b9e\u662f\u5f88\u591a\u590d\u6742\u7684\u6df7\u5408\u7684\u7ec6\u80de\u4e2d\u7684\u504f\u5411\u91c7\u6837\u3002\u5355\u5206\u5b50\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u5728\u6ca1\u6709\u7ecf\u8fc7PCR\u653e\u5927\uff0c\u6216\u8005\u6587\u5e93\u504f\u5411\u7684\u5e72\u6270\u7684\u60c5\u51b5\u4e0b\uff0c\u4ed6\u5f97\u5230\u7684\u662f\u6700\u539f\u59cb\u7684\u9ad8\u4fdd\u771f\u5ea6\u7684\u4fe1\u606f\uff0c\u8fd9\u662f\u975e\u5e38\u91cd\u8981\u7684\u4e00\u70b9\u3002<\/div>\n
\u00a0<\/div>\n
8\u3001\u7ed3\u6784\u548c\u5355\u78b1\u57fa\u7684\u5173\u7cfb<\/div>\n
\u4e00\u822c\u7684\u4e8c\u4ee3\u6d4b\u5e8f\u662f\u5728100-300\u4e4b\u95f4\uff0c\u73b0\u5728\u4e16\u754c\u4e0a90% \u5e8f\u5217\u662fIllumina\u8fd9\u6837\u7684\u8bfb\u957f\u5f88\u77ed\u7684\u6570\u636e\uff0c\u5b83\u5bf9SNP\u6216\u8005\u5c0f\u7684\u5728300bp\u4e4b\u5185indel\uff0c\u662f\u80fd\u591f\u654f\u611f\u7684\u770b\uff1b\u5728300bp\u4e4b\u4e0a\uff0c\u80fd\u529b\u5c31\u6709\u4e86\u5c40\u9650\uff0c\u68c0\u6d4b\u5927\u7ed3\u6784\u53d8\u5f02\u7684\u80fd\u529b\u6709\u5f88\u5927\u7684\u7247\u9762\u6027\u3002\u8fd9\u65f6\u5c31\u6709PacBio\u7b2c\u4e09\u4ee3\uff0c\u80fd\u591f\u628a\u4e24\u4e2a\u78b1\u57fa\u52303-4\u5343\u4e2a\u78b1\u57fa\u7684\u7ed3\u6784\u53d8\u5f02\u68c0\u6d4b\u7075\u654f\u5ea6\u63d0\u9ad8\u3002\u90a3\u4e48\u8fd9\u662f\u4e0d\u662f\u628a\u6240\u6709\u7684insertion\/deletionand SV\u5168\u90e8\u8bfb\u5b8c\uff0c\u5176\u5b9e\u4e5f\u4e0d\u662f\u3002\u56e0\u4e3a\u6211\u4eec\u73b0\u5728\u770b\u5230\u7684\uff0c\u5f88\u591a\u5927\u7684SV\u5728\u4e00\u4e2akb\u4e4b\u4e0a\uff0c\u5f88\u591a5kb\u4e4b\u4e0a, \u764c\u75c7\u57fa\u56e0\u7ec4\u5927\u7ed3\u6784\u53d8\u5f02\u975e\u5e38\u590d\u6742\u800c\u4e14\u5f71\u54cd\u7684\u7247\u6bb5\u8ddd\u79bb\u4e5f\u975e\u5e38\u5927\u3002\u6bd4\u5982L P A\u57fa\u56e0\u91cc\u6709\u4e00\u4e2a5.8 KB\u7684\u91cd\u590d\u5e8f\u5217\uff0c\u5728\u4eba\u7fa4\u4e2d\u670910\u4e2a\u523050\u4e2a\u62f7\u8d1d\uff0c\u62f7\u8d1d\u6570\u76f4\u63a5\u4e0e\u4eba\u7684\u5fc3\u8840\u7ba1\u75be\u75c5\u98ce\u9669\u6709\u5173\u300250 \u4e2a\u62f7\u8d1d\u5c31\u662f\u5c06\u8fd130\u4e07\u7684\u78b1\u57fa\uff0c\u8fd9\u79cd\u91cd\u590d\u5e8f\u5217\u4e09\u4ee3\u6d4b\u8bd5\u4e5f\u8986\u76d6\u4e0d\u4e86\u3002<\/div>\n
\u00a0<\/div>\n
\u518d\u8bf4\u8bf4\u7ed3\u6784\u548c\u5355\u78b1\u57fa\u4e4b\u95f4\u7684\u5173\u7cfb\u3002<\/div>\n
\u8fd9\u4e2a\u7ed3\u6784\u53d8\u5316\u6211\u4eec\u5148\u7ed9\u4e00\u4e2a\u5b9a\u4e49\u3002\u5355\u78b1\u57fa\u7a81\u53d8point mutation\u9020\u6210SNPs\uff0c\u4e00\u4e2a\u4eba\u57fa\u56e0\u7ec4\u91cc\u9762\u5e73\u5747\u67093-5\u767e\u4e07\u4e2aSNP\u3002\u4e00\u4e2a\u78b1\u57fa\u4ee5\u4e0a\uff0c\u6211\u4eec\u53ef\u4ee5\u53eb\u505asmall indel\uff08\u5c0f\u7247\u6bb5\u7684\u78b1\u57fa\u63d2\u5165\/\u4e22\u5931\uff09\uff0c\u5927\u4e8e50\u4e2a\u78b1\u57fa\u4ee5\u4e0a\u5c31\u53eb\u505a\u7ed3\u6784\u53d8\u5f02 \uff08Structural Variation-SVs\uff09\uff0c\u5927\u4e8e1000\u4e2a\u78b1\u57fa\u4ee5\u4e0a\u53eb\u505a\u5927\u7ed3\u6784\u53d8\u5f02 ( Large SVs)\u3002<\/div>\n
\u4e00\u822c\u4eba\u4ee5\u4e3a\u5927\u7ed3\u6784\u53d8\u5f02\u662f\u4e00\u4e2a\u5f88\u5c0f\u7684\u4e00\u4e2a\u6570\u91cf\uff0c\u5176\u5b9e\u6709\u4e0a\u5343\u4e2a\uff0c\u5728Bionano\u6211\u4eec\u7528\u4eba\u7c7b\u53c2\u7167\u57fa\u56e0\u7ec4\u6765\u505a\u6bd4\u8f83\uff0c\u4e00\u4e2a\u4eba\u57fa\u56e0\u7ec4\u91cc\u9762\u5e73\u5747\u5927\u6982\u5e73\u5747\u67092000-6000\u4e2aevents\u3002\u90a3\u4e48\u8fd9\u51e0\u5343\u4e2a\u3001\u4e00\u4e2akb\u4ee5\u4e0a\u7684\u7ed3\u6784\u53d8\u5f02\uff08Structural variation\uff09\u4e0d\u540c\uff08\u4e0e\u53c2\u7167\u57fa\u56e0\u7ec4\u505a\u6bd4\u8f83\uff09\uff0c\u6570\u91cf\u770b\u4e0a\u53bb\u633a\u5c0f\uff0c\u4f46\u662f\u6bcf\u4e00\u4e2aevent\u81f3\u5c11\u662f1000\u4e2a\u78b1\u57fa\uff0c\u6240\u4ee5\u6574\u4e2a\u52a0\u8d77\u6765\u5f71\u54cd\u7684\u78b1\u57fa\u6570\u662f\u975e\u5e38\u5927\u7684\uff0c\u8fdc\u8fdc\u8d85\u8fc7SNP\u3002\u6bd4\u5982\u5728\u5f88\u591a\u7cbe\u795e\u5206\u88c2\u75c7\u91cc\u9762\u53d1\u73b0\u4e00\u4e2aSV\u5c31\u53ef\u80fd\u4e0a\u767e\u4e07\u4e2a\u78b1\u57fa\u88ab\u4e22\u5931\u4e86\u3002<\/div>\n
\u6839\u636e\u6211\u4eec\u8d85\u8fc7\u51e0\u767e\u4e2a\u4eba\u7684\u6570\u636e\u7814\u7a76\u53d1\u73b0\uff0c\u5728SV\u5c42\u9762\uff0c\u4eba\u548c\u4eba\u4e4b\u95f4\u7684\u53d8\u5f02\u662f\u53ef\u80fd\u4e0a\u5343\u4e07\u78b1\u57fa\uff0c\u90a3\u4e48\u5728\u4eba\u79cd\u4e0d\u540c\u7684\u60c5\u51b5\u4e0b\u6bd4\u5982\u8bf4\u4e9a\u6d32\u4eba\u548c\u767d\u4eba\u4e4b\u95f4\u53ef\u80fd\u6709\u4e0a\u5343\u4e07\u78b1\u57fa\u7684\u4e0d\u540c\u3002\u73b0\u5728\u5927\u90e8\u5206\u7684\u57fa\u56e0\u7ec4\u6570\u636e\u5176\u5b9e\u90fd\u662f\u9ad8\u52a0\u7d22\u4eba\u79cd\u7684\u6570\u636e\u4e3a\u4e3b\uff0c\u90a3\u4e48\u73b0\u5728\u4e2d\u56fd\u65b0\u836f\u7684\u5f00\u53d1\u5c31\u5fc5\u987b\u8981\u6709\u4e2d\u56fd\u4eba\u7684\u7cbe\u51c6\u6570\u636e\u6765\u505a\u5927\u6570\u636e\u5e93\u7684\u57fa\u7840\u3002<\/div>\n
\u00a0<\/div>\n
\u73b0\u5728\u533b\u9662\u91cc\u5e94\u7528\u975e\u5e38\u6210\u719f\u7684\u7ec6\u80de\u6838\u578b\u5206\u6790 \uff08Cytogentics\uff09\uff0c\u5f88\u591a\u53eb\u5f97\u51fa\u540d\u5b57\u7684\u75be\u75c5\uff08\u4e00\u822c\u662f\u63cf\u8ff0\u75c5\u60c5\u7684\u540d\u5b57\u6216\u8005\u8bf4\u53d1\u73b0\u8fd9\u4e2a\u75c5\u7684\u533b\u751f\u7684\u540d\u5b57\uff09\u90fd\u662f\u7531\u4e8e\u5927\u7ed3\u6784\u53d8\u5f02\u7684\u3002\u8fd9\u4e2a\u4ece\u76f4\u89c9\u4e0a\u4e5f\u662f\u5f88\u5bb9\u6613\u7406\u89e3\uff0c\u5355\u78b1\u57fa\u53d8\u5316\uff0c\u5982\u679c\u4e0d\u5728DNA coding region\uff0c\u90a3\u4e48\u5b83\u5e76\u4e0d\u6539\u53d8DNA\u86cb\u767d\u7684\u7ed3\u6784\uff0c\u5982\u679c\u662fcoding region \uff08\u53ea\u6709\u57fa\u56e0\u7ec41.5%\uff09\uff0c\u5982\u679c\u662f\u7b2c\u4e09\u4e2a\u78b1\u57fa\uff0c\u5b83\u4e5f\u4e0d\u6539\u53d8\u86cb\u767d\u7684amino acid\uff0c\u662fsame sense mutation\uff0c\u6240\u4ee5\u5728\u8fd9\u51e0\u767e\u4e07\u4e2aSNP\u78b1\u57fa\u70b9\u7a81\u53d8\u6570\u5b57\u5e9e\u5927\uff0c\u6709\u591a\u5c11\u4e2a\u771f\u6b63\u6d89\u53ca\u5230\u529f\u80fd\u7684\u8fd8\u662f\u6709\u5f85\u8ba8\u8bba\u7684\u3002<\/div>\n
\u800c\u5927\u7247\u6bb5\u7ed3\u6784\u53d8\u5316\u662f\u4e0d\u5927\u4e00\u6837\u7684\uff0c\u5b83\u53ef\u4ee5\u5f71\u54cdcoding region\uff0c\u628a\u6574\u4e2a\u57fa\u56e0\u6216\u8005\u6574\u4e2aintron, exome\u5168\u90e8\u6216\u90e8\u5206\u53bb\u6389\uff0c\u76f4\u63a5\u5f71\u54cd\u86cb\u767d\u7ed3\u6784\u53ca\u5176\u529f\u80fd\u3002\u53e6\u5916\uff0c\u6211\u4eec\u90fd\u77e5\u9053\u57fa\u56e0\u529f\u80fd\u7684\u8c03\u63a7\u4f5c\u7528\u5176\u5b9e\u662f\u7531\u67d3\u8272\u4f53\u4e09\u7ef4\u7ed3\u6784\u6765\u5f71\u54cd\u7684\uff0c\u4e5f\u5c31\u662f\u8bf4\u57fa\u56e0\u7684\u8c03\u63a7\u5b50\u5e8f\u5217\u53ef\u80fd\u5728\u86cb\u767d\u7ed3\u6784\u5e8f\u5217\u90e8\u5206\u975e\u5e38\u9065\u8fdc\u7684\u5730\u65b9\u6298\u53e0\u540e\u8fd1\u8ddd\u79bb\u76f8\u4e92\u4f5c\u7528\u3002<\/div>\n
\u00a0<\/div>\n
\u90a3\u4e48\u5927\u7247\u6bb5\u7ed3\u6784\u53d8\u5f02\uff0c\u6bd4\u5982\u589e\u52a0\u6216\u4e22\u5931\u51e0\u5343\u6216\u51e0\u5341\u4e07\u4e2a\u78b1\u57fa\uff0c\u6574\u4e2a\u8c03\u63a7\u533a\u5168\u90e8\u6216\u90e8\u5206\u53bb\u6389\uff0c\u6216\u8005\u4ec5\u5f71\u54cd\u57fa\u56e0\u7ec4\u7684\u4e09\u7ef4\u7a7a\u95f4\u6784\u67b6\uff0c\u8fdb\u4e00\u6b65\u5f71\u54cd\u5f88\u591a\u57fa\u56e0\u7684\u529f\u80fd\u8c03\u63a7\u3002\u8fd9\u4e2a\u6700\u8fd1\u7f8e\u56fdEncode\u8ba1\u5212\u4e2d\u7684\u4e00\u4e9b\u5b9e\u9a8c\u5ba4\u53d1\u8868\u6587\u7ae0\u4f7f\u7528Bionano \u5df2\u7ecf\u76f4\u63a5\u5728\u5927\u91cf\u7ed3\u6784\u53d8\u5f02\u7684\u764c\u75c7\u57fa\u56e0\u7ec4\u91cc\u8bc1\u660e\u4e86\u8fd9\u4e2a\u60c5\u51b5\u3002<\/div>\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
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\"eicZhoGYCfyZML0ZfhElCsh4hnADLt7A8GtKFMStH5ZLWp6IWuuxSD0Rn0yM5oWKvolsTb3qiaPUpJticeQZ80HAQ\"\/<\/figure><\/div>\n\n
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\u00a0<\/div>\n
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\u00a0<\/div>\n
\u7b2c\u4e00\u4e2a\u901a\u91cf\uff0c\u5c31\u662f\u6211\u4eec\u4e0a\u9762\u7684\u7eb3\u7c73\u7ba1\u9053\u7684\u91cf\u53ef\u4ee5\u8d8a\u6765\u8d8a\u591a\uff0c\u957f\u5ea6\u4e5f\u53ef\u4ee5\u8d8a\u6765\u8d8a\u957f\uff0c\u90a3\u4e48DNA\u7ed3\u6784\u4e0a\u6240\u6709\u7684\u53d8\u5316\u90fd\u5305\u542b\u5728\u91cc\u9762\uff0c\u90a3\u4e48\u4ed6\u7ec4\u88c5\u53caSV\u4e5f\u8d8a\u6765\u8d8a\u7cbe\u786e\u3002<\/div>\n
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\u7b2c\u4e09\uff0c \u8fd9\u662f\u4e00\u4e2a\u5e73\u53f0\uff0c\u6bd4\u5982\u7ec4\u88c5\u3002\u522b\u7684\u7ec4\u88c5\u6280\u672f\u53ea\u662f\u4e00\u4e2aAPP\uff0c\u6211\u4eec\u8fd9\u662f\u4e00\u4e2a\u5e73\u53f0\uff0c\u4e0a\u9762\u4e5f\u80fd\u770b\u5230\u5f88\u957f\u7684\u5c06\u6765\uff0c\u8fd9\u4e2a\u6807\u8bb0\u70b9\u4e5f\u53ef\u80fd\u662f\u4e00\u4e2a\u6bd4\u5982\u8bf4\u8ddf\u8868\u89c2\u751f\u7269\u5b66\u6709\u5173\uff0c\u53ef\u80fd\u662f\u7532\u57fa\u5316methylationsite\u7684\u4e00\u4e2a\u6807\u8bb0\uff0c\u6211\u4eec\u7528\u6765\u505a\u8868\u89c2\u751f\u7269\u5b66\u7684\u5f62\u72b6\u3002\u6211\u4eec\u4e5f\u53ef\u4ee5\u628a\u6bd4\u5982\u8bf4transcriptionfactor(\u8f6c\u5f55\u56e0\u5b50)\u505a\u6807\u8bb0\u3002\u6211\u4eec\u53ef\u505a\u529f\u80fd\u751f\u7269\u5b66\uff0c\u53ef\u4ee5\u628a\u4e0a\u9762\u86cb\u767d\u505a\u6807\u8bb0\uff0c\u6bd4\u5982\u8bf4\u4e5f\u53ef\u4ee5\u505aCRISPR-Cas \u7279\u5f02\u7684\u6807\u8bb0\u65b9\u5f0f\u3002\u6240\u4ee5\u50cf\u667a\u80fd\u624b\u673a\u5e73\u53f0\uff0c\u4e0a\u9762\u53ef\u4ee5\u5e73\u884c\u5f00\u53d1\u5f88\u591a\u5e94\u7528\uff0c\u6f5c\u529b\u975e\u5e38\u5927\u3002<\/div>\n
\u00a0<\/div>\n
\u6211\u4eec\u975e\u5e38\u613f\u610f\u548c\u56fd\u5185\u7684\u7cbe\u51c6\u533b\u5b66\u9886\u57df\u540c\u4ec1\u4e00\u8d77\u5408\u4f5c\uff0c\u6211\u4eec\u662f\u4e00\u4e2a\u5f00\u653e\u6027\u7684\u5e73\u53f0\uff0c\u6211\u4eec\u8fd9\u4e2a\u5e73\u53f0\u7684\u6570\u636e\u662f\u4e00\u4e2a\u72ec\u7acb\u7684\u6570\u636e\uff0c\u53ef\u4ee5\u548c\u6240\u6709\u7684\u6d4b\u5e8f\u7684\u6570\u636e\u76f8\u6574\u5408\uff0c\u6211\u4eec\u5e76\u4e0d\u5728\u4e4e\u4ed6\u662f\u4ece\u54ea\u91cc\u6765\u7684\uff0c\u4e5f\u53ef\u80fd\u662fPacBio\uff0c\u4e5f\u53ef\u80fd\u662fIllumina\u4e5f\u53ef\u80fd\u662fLife Tech\u516c\u53f8\u7684\u6280\u672f\u5e73\u53f0\u6765\uff0c\u901a\u8fc7\u53e0\u52a0\u4ee5\u540e\u505a\u51fa\u6765\u7684\u4fe1\u606f\u80af\u5b9a\u662f\u6700\u7cbe\u786e\u7684\u3002\u8fd9\u4e2a\u5e73\u53f0\u6280\u672f\u7684\u6700\u7ec8\u53ef\u4ee5\u8fdb\u5165\u8f6c\u5316\u533b\u5b66\u4e34\u5e8a\u8bca\u65ad\u4ee5\u53ca\u65b0\u836f\u7684\u5f00\u53d1\u5927\u5e02\u573a\u3002<\/div>\n
\u00a0<\/div>\n
10\u3001\u884c\u4e1a\u770b\u6cd5\u548c\u5c55\u671b<\/div>\n
\u6700\u540e\u6211\u60f3\u8c08\u8c08\u5bf9\u884c\u4e1a\u73b0\u72b6\u7684\u4e00\u4e9b\u601d\u8003\u548c\u770b\u6cd5\uff0c\u76ee\u524d\u7cbe\u51c6\u533b\u5b66\u548c\u5927\u6570\u636e\u8fd8\u6709\u4eba\u5de5\u667a\u80fd\u8fd9\u4e09\u4e2a\u65b9\u9762\u975e\u5e38\u70ed\uff0c\u4f46\u662f\u6709\u4e00\u70b9\u662f\u975e\u5e38\u91cd\u8981\u7684\u3002\u5982\u679c\u539f\u59cb\u6570\u636e\u662f\u4e0d\u7cbe\u786e\u6216\u8005\u4e0d\u5b8c\u6574\u7684\uff0c\u6570\u636e\u5582\u5230\u4eba\u5de5\u667a\u80fd\u91cc\u9762\uff0c\u4ea7\u751f\u7684\u7ed3\u679c\u80af\u5b9a\u662f\u9519\u8bef\u7684\uff0c\u8fd9\u662f\u4e00\u4e2a\u975e\u5e38\u5371\u9669\u7684\u60c5\u51b5\u3002<\/div>\n
\u6b64\u5916\uff0c\u540c\u8d28\u5316\u6bd4\u8f83\u4e25\u91cd\uff0c\u5927\u5bb6\u90fd\u662f\u53ef\u4ee5\u4e70\u540c\u6837\u7684\u4eea\u5668\uff0c\u505a\u540c\u6837\u7684\u4e8b\u60c5\uff0c\u5982\u679c\u5728\u8fd9\u4e2a\u60c5\u51b5\u4e0b\u628a\u4e00\u4e2a\u522b\u7684\u6570\u636e\u6574\u5408\u8fdb\u53bb\uff0c\u8fd9\u4e2a\u7ed3\u8bba\u5c31\u53ef\u80fd\u8d28\u53d8\uff0c\u975e\u5e38\u6e05\u6670\u4e86\u3002\u6bd4\u5982\u8bf4\u540c\u6837\u4e24\u4e2a\u9057\u4f20\u75be\u75c5\uff0cSNP\u90fd\u662f\u4e00\u6837\u7684\uff0c\u4f46\u662f\u4e00\u4e2a\u75be\u75c5\u7684\u6027\u72b6\u8868\u73b0\u7684\u4e25\u91cd\u7a0b\u5ea6\u66f4\u5f3a\u4e00\u4e9b\uff0c\u90a3\u53ef\u80fd\u8fd9\u4e2a\u75be\u75c5\u4eba\u7684\u57fa\u56e0\u7ec4\u91cc\u9762\u8fd8\u6709\u4e00\u4e2a\u7ed3\u6784\u7684\u53d8\u5f02\u3002<\/div>\n
\u7ed3\u6784\u53d8\u5f02\u53ef\u4ee5\u6709\u4e24\u4e2a\u65b9\u5411\uff0c\u4e00\u4e2a\u662f\u53ef\u80fd\u4f7f\u75c5\u4eba\u75c5\u60c5\u66f4\u52a0\u4e25\u91cd\uff0c\u6216\u8005\u51cf\u8f7b\uff0c\u8fd9\u4e24\u7c7b\u65b9\u5411\u90fd\u4f1a\u5f71\u54cd\u7a81\u53d8\u7684\u70b9\uff0c\u5bf9\u4e8e\u8fd9\u4e24\u79cd\u4e0d\u540c\u7684\u4fe1\u606f\uff0c\u5206\u5f00\u6765\u770b\u7136\u540e\u518d\u6574\u5408\u8d77\u6765\u770b\uff0c\u80fd\u591f\u5f97\u5230\u7cbe\u786e\u7684\u4fe1\u606f\u548c\u7ed3\u8bba\u3002<\/div>\n
\u6240\u4ee5\u671f\u5f85\u901a\u8fc7\u6211\u4eecBionano\u7684\u56fe\u8c31\u6280\u672f\uff0c\u5728\u7ed3\u6784\u53d8\u5f02\u957f\u7247\u6bb5\u7684\u57fa\u56e0\u5e8f\u5217\u65b9\u9762\uff0c\u4e3a\u539f\u59cb\u6570\u636e\u7684\u7cbe\u786e\u6027\u4ee5\u53ca\u884c\u4e1a\u5dee\u5f02\u5316\u53d1\u5c55\u63d0\u4f9b\u5165\u53e3\uff0c\u5171\u540c\u53d1\u5c55\uff0c\u63a8\u52a8\u884c\u4e1a\u8fdb\u6b65\u548c\u7814\u7a76\u5e94\u7528\u3002<\/div>\n
\u00a0<\/div>\n
\u5609\u5bbe\u4e13\u4eab<\/div>\n
Saphyr\u5e73\u53f0<\/div>\n
Bionano Genomics\u516c\u53f8\u7684Saphyr\u662f\u4e00\u6b3e\u9ad8\u901a\u91cf\u7684\u5e73\u53f0\uff0c\u5728\u7ed3\u6784\u53d8\u5f02\u68c0\u6d4b\u4e0a\u5177\u6709\u51fa\u8272\u7684\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\uff0c\u53ef\u5b9e\u73b0\u6bd4\u77ed\u8bfb\u53d6\u6280\u672f\u957f100\u500d\u7684\u57fa\u56e0\u7ec4\u7ec4\u88c5\u3002\u5728\u4eba\u7c7b\u57fa\u56e0\u7ec4\u5b66\u7814\u7a76\u4e2d\uff0c\u5b83\u7684\u4e3b\u8981\u5e94\u7528\u6709\u7ed3\u6784\u53d8\u5f02\u7684\u53d1\u73b0\uff0c\u53ef\u7528\u4e8e\u9057\u4f20\u75c5\u548c\u764c\u75c7\u7684\u8f6c\u5316\u548c\u4e34\u5e8a\u7814\u7a76\uff1b\u5728\u975e\u4eba\u7c7b\u57fa\u56e0\u7ec4\u5b66\u7814\u7a76\u4e2d\uff0c\u5b83\u53ef\u4ee5\u7528\u4e8e\u9009\u62e9\u6027\u80b2\u79cd\u3001\u8fdb\u5316\u751f\u7269\u5b66\u548c\u53c2\u8003\u57fa\u56e0\u7ec4\u7684\u7ec4\u88c5\u3002<\/div>\n
\u8fd9\u79cd\u6280\u672f\u878d\u5408\u4e86\u4e13\u6709\u7684Nano Channel\u82af\u7247\u548c\u5149\u5b66\u57fa\u56e0\u7ec4\u56fe\u8c31\uff0c\u91c7\u7528\u4e86\u57fa\u4e8e\u673a\u5668\u5b66\u4e60\u7684DNA\u81ea\u9002\u5e94\u4e0a\u6837\u4ee5\u53ca\u9ad8\u901a\u91cf\u7684Saphyr\u2122 Chip\uff0c\u80fd\u591f\u5bf9\u57fa\u56e0\u7ec4\u8fdb\u884c\u9ad8\u5206\u8fa8\u7387\u7684\u626b\u63cf\u3002\u6bcf\u5757Saphyr\u82af\u7247\u6bcf\u5929\u80fd\u591f\u4ea7\u51fa640 Gb\uff0c\u8ba9\u7814\u7a76\u4eba\u5458\u5728\u5355\u6b21\u8fd0\u884c\u4e2d\u6df1\u5ea6\u63a2\u7d22\u6742\u5408\u7684\u7ed3\u6784\u53d8\u5f02\u3002\u6b64\u5916\uff0cSaphyr\u7cfb\u7edf\u7684\u6d41\u7a0b\u7ecf\u8fc7\u7b80\u5316\uff0c\u6bcf\u5757\u82af\u7247\u7684\u624b\u5de5\u64cd\u4f5c\u65f6\u95f4\u4e0d\u52303\u5206\u949f\uff0c\u5e76\u81ea\u52a8\u6307\u5bfc\u548c\u76d1\u63a7DNA\u6837\u54c1\u7684\u4e0a\u6837\uff0c\u786e\u4fdd\u65e0\u7f1d\u7684\u56fe\u50cf\u5904\u7406\u5e76\u51cf\u5c11\u624b\u52a8\u5e72\u9884\u3002<\/div>\n\n
\n
\"eicZhoGYCfyZML0ZfhElCsh4hnADLt7A8vSgnC5KgSwUfWo4BaLdQQgCagozwwoO9TL0UHhQ99XGQR0LXnf0VTw\"\/<\/figure><\/div>\n\n
\uff08\u56fe6\uff1aSaphyr\u5e73\u53f0\uff0c\u7ecf\u4f5c\u8005\u6388\u6743\u53d1\u5e03\uff09<\/div>\n
Irys\u00ae\u7cfb\u7edf<\/div>\n
Bionano Genomics\u516c\u53f8\u7684Irys\u5149\u5b66\u56fe\u8c31\u7cfb\u7edf\uff0c\u901a\u8fc7\u9176\u5207\u6280\u672f\u548c\u5176\u4e13\u5229\u7684\u82af\u7247\u6280\u672f\u53ef\u4ee5\u5bf9\u957f\u8fbe\u51e0\u767ekb\u7684\u957f\u94feDNA\u5355\u5206\u5b50\u6210\u50cf\uff0c\u5728\u66f4\u77ed\u65f6\u95f4\u63d0\u4f9b\u66f4\u5b8c\u6574\u7684\u57fa\u56e0\u56fe\u8c31\uff0c\u5728\u8f85\u52a9\u57fa\u56e0\u7ec4\u7ec4\u88c5\u548c\u7ed3\u6784\u53d8\u5f02\u68c0\u6d4b\u7b49\u65b9\u9762\u6709\u5e7f\u6cdb\u7684\u5e94\u7528\u3002<\/div>\n
\u5728\u6700\u65b0\u4e00\u671f\u7684\u300aNature\u300b\u6742\u5fd7\u4e0a\uff0c\u6765\u81ea\u97e9\u56fd\u9996\u5c14\u56fd\u7acb\u5927\u5b66\u53d1\u8868\u4e86\u4e00\u4e2aKorean\u57fa\u56e0\u7ec4\u5e8f\u5217\uff1a\u9898\u4e3a\u201c Denovo assembly and phasing of a Korean human genome\u201d\uff0c\u8fd9\u662f\u8fc4\u4eca\u4e3a\u6b62\u53d1\u8868\u7684\u6700\u4e3a\u8fde\u7eed\u7684\u4eba\u7c7b\u57fa\u56e0\u7ec4\uff0c\u4e3a\u9057\u4f20\u5b66\u5bb6\u63d0\u4f9b\u4e86\u7279\u5f02\u6027\u4eba\u7fa4\u53c2\u8003\u57fa\u56e0\u7ec4\u7684\u91cd\u8981\u6570\u636e\u3002\u4f5c\u8005\u91c7\u7528\u4e86PacBio \u5355\u5206\u5b50\u5b9e\u65f6\uff08SMRT\uff09\u6d4b\u5e8f\u6280\u672f\uff0cBionano\u4e0b\u4e00\u4ee3\u56fe\u8c31\u6280\u672f\uff0c\u5fae\u6d41\u4f53linked reads\u53caBAC\u6d4b\u5e8f\u7b49\u65b9\u6cd5\uff0c\u5b8c\u6210\u4e86\u4e00\u4e2aKorean\u4e2a\u4f53AK1\u57fa\u56e0\u5e8f\u5217\u7684\u4ece\u5934\u7ec4\u88c5\u548c\u5355\u500d\u4f53\u578b\u5b9a\u76f8\u4fe1\u606f\u5206\u6790\u3002<\/div>\n
\u00a0<\/div>\n
Bionano\u4f18\u8109\u901a\u5730\u5740\uff1a<\/div>\n
http:\/\/www.precisionmedcine.cn\/index\/info\/id\/2329<\/div>\n
\u00a0<\/div>\n
\u96c6\u8d24\u4ee4<\/div>\n
\u5f97\u76ca\u4e8e\u884c\u4e1a\u53d1\u5c55\u548c\u540c\u884c\u652f\u6301\uff0c\u57fa\u56e0\u6167\u56e2\u961f\u6269\u5927\uff0c\u5317\u4eac\u3001\u6df1\u5733\u7b49\u5730\u4e3a\u5927\u5bb6\u505a\u597d\u8fde\u63a5\u3001\u54c1\u724c\u548c\u4fe1\u606f\u670d\u52a1\u3002\u5728\u6b64\u6211\u4eec\u8bda\u9080\u5bf9\u7cbe\u51c6\u533b\u7597\u4e92\u8054\u7f51\u4fe1\u606f\u5e73\u53f0\u611f\u5174\u8da3\uff0c\u8ba4\u540c\u57fa\u56e0\u6167\uff0c\u6709\u521b\u4e1a\u7cbe\u795e\u548c\u884c\u4e1a\u7ecf\u9a8c\u7684\u5c0f\u4f19\u4f34\u4eec\u52a0\u5165\uff0c\u5171\u540c\u6210\u957f\u3002<\/div>\n\n
\n
\"eicZhoGYCfybicPDiaSoHE0xB6ckGRJg5KYr8spaR1uuU1NFiabRBVojIy6Ypsf9XObB0sn87KIHmWhEgl57G0c4hQ\"\/<\/figure><\/div>\n\n
\u5546\u52a1\u62d3\u5c55\uff08BD\uff09<\/div>\n
1. \u5177\u6709\u521b\u4e1a\u7cbe\u795e\uff0c\u517c\u5907\u6bc5\u529b\u548c\u97e7\u6027\uff1b<\/div>\n
2. \u672c\u79d1\u53ca\u4ee5\u4e0a\u5b66\u5386\uff0c\u751f\u7269\u3001\u533b\u836f\u76f8\u5173\u4e13\u4e1a\u4f18\u5148\uff0c\u4e24\u5e74\u4ee5\u4e0a\u884c\u4e1a\u76f8\u5173\u7ecf\u9a8c\uff1b<\/div>\n
3. \u5584\u4e8e\u6c9f\u901a\u4e0e\u8c08\u5224\u3002<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n\n
\n
\"eicZhoGYCfybicPDiaSoHE0xB6ckGRJg5KY67UdEhERapQUPxFrEfQmW38eM1eF1G9HnAyFGZ7NZN8MMrCS8uHRAA\"\/<\/figure><\/div>\n\n
<\/div>\n
\u4e92\u8054\u7f51\u4ea7\u54c1\u8fd0\u8425<\/div>\n
1. \u5177\u6709\u521b\u4e1a\u7cbe\u795e\uff0c\u517c\u5907\u6bc5\u529b\u548c\u97e7\u6027\uff1b<\/div>\n
2. \u672c\u79d1\u53ca\u4ee5\u4e0a\u5b66\u5386\uff0c\u4e24\u5e74\u4ee5\u4e0a\u4e92\u8054\u7f51\u8fd0\u8425\u7ecf\u9a8c\uff0c\u751f\u7269\u533b\u7597\u884c\u4e1a\u7ecf\u9a8c\u8005\u4f18\u5148\uff1b<\/div>\n
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