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\u3000\u3000\u5f97\u76ca\u4e8e\u201c\u957f\u8bfb\u957f\u201dDNA\u6d4b\u5e8f\u6280\u672f\u548c\u521b\u65b0\u7684\u5e8f\u5217\u7ec4\u88c5\u65b9\u6cd5\uff0c\u79d1\u5b66\u5bb6\u4eec\u7ec8\u4e8e\u5b9e\u73b0\u4e86\u5bf9Y\u67d3\u8272\u4f53\u7684\u65e0\u95f4\u9699\u8bfb\u53d6\u3002<\/p>\n\n\n\n

\u3000\u3000\u5468\u65f8\u8bf4\uff1a\u201c\u79d1\u5b66\u5bb6\u5229\u7528\u2018\u957f\u8bfb\u957f\u2019DNA\u6d4b\u5e8f\u6280\u672f\uff0c\u4e00\u5b9a\u7a0b\u5ea6\u4e0a\u964d\u4f4e\u4e86\u7ec4\u88c5Y\u67d3\u8272\u4f53\u7684\u96be\u5ea6\u3002\u53e6\u5916\uff0c\u79d1\u5b66\u5bb6\u4e5f\u9488\u5bf9\u65b0\u6280\u672f\u7684\u6d4b\u5e8f\u6570\u636e\u5f00\u53d1\u4e86\u65b0\u7684\u7ec4\u88c5\u7b97\u6cd5\u8fdb\u884c\u81ea\u52a8\u5316\u7ec4\u88c5\uff0c\u63d0\u5347\u4e86\u7ec4\u88c5\u6548\u7387\u3002\u201d<\/p>\n\n\n\n

\u3000\u3000\u4eca\u5e742\u6708\uff0c\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\u7814\u7a76\u4eba\u5458\u53d1\u5e03\u4e86\u4e00\u79cd\u521b\u65b0\u7684\u8f6f\u4ef6\u5de5\u5177Verkko\uff0c\u7528\u4e8e\u7ec4\u88c5\u6765\u81ea\u5404\u79cd\u7269\u79cd\u7684\u771f\u6b63\u5b8c\u6574\u7684\u57fa\u56e0\u7ec4\u5e8f\u5217\u3002\u7814\u7a76\u4eba\u5458\u79f0\uff0c\u6709\u4e86Verkko\uff0c\u7814\u7a76\u4eba\u5458\u73b0\u5728\u53ea\u9700\u6309\u4e0b\u4e00\u4e2a\u6309\u94ae\u5c31\u80fd\u81ea\u52a8\u83b7\u53d6\u5b8c\u6574\u7684\u57fa\u56e0\u7ec4\u5e8f\u5217\u3002<\/p>\n\n\n\n

\u3000\u3000\u82f1\u56fd\u300a\u65b0\u79d1\u5b66\u5bb6\u300b\u6742\u5fd7\u7f51\u7ad98\u670823\u65e5\u62a5\u9053\uff0c\u7814\u7a76\u4eba\u5458\u8fd8\u8fd0\u7528\u4e86\u82f1\u56fd\u725b\u6d25\u7eb3\u7c73\u5b54\u516c\u53f8\u6240\u5f00\u53d1\u7684\u7eb3\u7c73\u5b54\uff08Nanopore\uff09\u6d4b\u5e8f\u6280\u672f\u3002\u5f53\u5355\u4e2aDNA\u5206\u5b50\u7a7f\u8fc7\u4e00\u4e2a\u7eb3\u7c73\u5b54\u65f6\uff0c\u5c31\u80fd\u8bfb\u53d6\u8be5\u5206\u5b50\u7684\u5e8f\u5217\uff0c\u4ea7\u751f\u6570\u767e\u4e07\u4e2aDNA\u78b1\u57fa\u5b57\u6bcd\u7684\u7247\u6bb5\uff0c\u800c\u4e0d\u4ec5\u4ec5\u662f\u51e0\u767e\u4e2a\u3002<\/p>\n\n\n\n

\u3000\u3000\u5728\u672c\u6b21\u7814\u7a76\u4e2d\uff0c\u5f97\u76ca\u4e8e\u4e0a\u8ff0\u65b9\u6cd5\uff0c\u56e2\u961f\u80fd\u591f\u5e94\u5bf9Y\u67d3\u8272\u4f53\u6d4b\u5e8f\u4e2d\u7684\u79cd\u79cd\u6311\u6218\u3002<\/p>\n\n\n\n

\u3000\u3000Y\u67d3\u8272\u4f53\u4e0a\u7684\u65b0\u53d1\u73b0<\/p>\n\n\n\n

\u3000\u3000\u6b64\u6b21\u53d1\u8868\u7684\u4e00\u7bc7\u8bba\u6587\u79f0\uff0cY\u67d3\u8272\u4f53\u5305\u542b62460029\u4e2a\u78b1\u57fa\u5bf9\u5e8f\u5217\u3002\u8be5\u6570\u5b57\u6bd4\u53c2\u8003\u57fa\u56e0\u7ec4GRCh38\u91cc\u7684Y\u67d3\u8272\u4f53\u6570\u636e\u591a\u4e863000\u4e07\u4e2a\u78b1\u57fa\u5bf9\uff0c\u6807\u5fd7\u7740\u6d4b\u5e8f\u5b8c\u6574\u6027\u7684\u663e\u8457\u8fdb\u6b65\u3002<\/p>\n\n\n\n

\u3000\u3000\u901a\u8fc7\u6539\u8fdbGRCh38\u4e2d\u7684\u9519\u8bef\u5e76\u9610\u660eDAZ\u548cRBMY\u7b49\u57fa\u56e0\u5bb6\u65cf\u7684\u7ed3\u6784\uff08\u8fd9\u4e24\u4e2a\u57fa\u56e0\u5bb6\u65cf\u90fd\u6709\u52a9\u4e8e\u7cbe\u5b50\u7684\u4ea7\u751f\uff09\uff0c\u8be5\u56e2\u961f\u589e\u8fdb\u4e86\u5bf9Y\u67d3\u8272\u4f53\u9057\u4f20\u7ed3\u6784\u7684\u7406\u89e3\u3002<\/p>\n\n\n\n

\u3000\u3000\u6b64\u5916\uff0c\u8fd9\u6761\u5b8c\u6574\u7684Y\u67d3\u8272\u4f53\u6709106\u4e2a\u86cb\u767d\u8d28\u7f16\u7801\u57fa\u56e0\uff0c\u6bd4\u53c2\u8003\u57fa\u56e0\u7ec4\u591a\u4e8641\u4e2a\u3002\u4f46\u51e0\u4e4e\u6240\u6709\u8fd9\u4e9b\u989d\u5916\u7684\u57fa\u56e0\u90fd\u53ea\u662f\u4e00\u79cd\u88ab\u79f0\u4e3aTSPY\u7684\u57fa\u56e0\u7684\u526f\u672c\u3002\u4ed6\u4eec\u8fd8\u8fa8\u8bc6\u51fa\u4ee5\u524d\u88ab\u8bef\u89e3\u4e3a\u662f\u7ec6\u83ccDNA\u7684\u5e8f\u5217\uff0c\u8fd9\u4e9b\u5e8f\u5217\u5176\u5b9e\u662f\u4e4b\u524d\u672a\u77e5\u7684\u4eba\u7c7bY\u67d3\u8272\u4f53\u5e8f\u5217\u3002<\/p>\n\n\n\n

\u3000\u3000\u5728\u53e6\u4e00\u7bc7\u8bba\u6587\u4e2d\uff0c\u5305\u62ec\u7f8e\u56fd\u6770\u514b\u900a\u57fa\u56e0\u7ec4\u533b\u5b66\u5b9e\u9a8c\u5ba4\u5728\u5185\u7684\u8054\u5408\u56e2\u961f\u7ec4\u88c5\u4e86\u4ee3\u8868\u4e16\u754c21\u4e2a\u4e0d\u540c\u4eba\u7fa4\u768443\u540d\u7537\u6027\u7684Y\u67d3\u8272\u4f53\u3002\u8fd9\u4e9b\u7ec4\u88c5\u7ed3\u679c\u66f4\u8be6\u7ec6\u5730\u9610\u91ca\u4e86Y\u67d3\u8272\u4f53\u5728\u4eba\u7c7b\u6f14\u5316\u5386\u53f2\u4e2d\u7684\u9057\u4f20\u5dee\u5f02\u3002\u7814\u7a76\u7ed3\u679c\u63ed\u793a\u4e86\u65b0\u7684DNA\u5e8f\u5217\u3001\u4fdd\u5b88\u533a\u57df\u7684\u7279\u5f81\uff0c\u4ee5\u53ca\u4fc3\u8fdbY\u67d3\u8272\u4f53\u590d\u6742\u7ed3\u6784\u7684\u5206\u5b50\u673a\u5236\u3002<\/p>\n\n\n\n

\u3000\u3000\u91d1\u946b\u8868\u793a\uff0c\u53bb\u5e74\u516c\u5e03\u7684T2T-CHM13\u5b8c\u6574\u57fa\u56e0\u7ec4\u6837\u672c\u53d6\u81ea\u4e00\u4e2a\u8461\u8404\u80ce\u7684\u5355\u500d\u57fa\u56e0\u7ec4\uff08\u5b8c\u5168\u6027\u8461\u8404\u80ce\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u598a\u5a20\u5e76\u53d1\u75c7\uff0c\u7531\u6765\u6e90\u4e8e\u80ce\u76d8\u7684\u7ec6\u80de\u5f02\u5e38\u751f\u957f\u5f15\u8d77\uff09\uff0c\u800c\u6b64\u6b21\u6837\u672c\u53d6\u81ea\u5065\u5eb7\u7684\u4eba\u7c7b\u4e2a\u4f53\u3002<\/p>\n\n\n\n

\u3000\u3000\u4e0a\u6d77\u4ea4\u901a\u5927\u5b66\u957f\u8058\u6559\u8f68\u526f\u6559\u6388\u6bdb\u4e9a\u98de\u544a\u8bc9\u8bb0\u8005\uff0c\u76ee\u524d\u6765\u770b\uff0c\u8fd9\u4e2a\u6570\u76ee\u7684\u6837\u672c\u5df2\u7ecf\u662f\u4eba\u7c7b\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4e0a\u5f88\u5927\u7684\u7a81\u7834\u3002\u4e0d\u8fc7\uff0c\u4e0b\u4e00\u6b65\u8fd8\u5e94\u8be5\u9009\u62e9\u66f4\u5e7f\u6cdb\u7684\u6837\u672c\uff0c\u5305\u62ec\u4e0d\u540c\u79cd\u65cf\u3001\u5730\u7406\u533a\u57df\u548c\u4eba\u7fa4\uff0c\u8fd9\u6837\u624d\u80fd\u66f4\u597d\u5730\u4ee3\u8868\u5168\u7403\u4eba\u7c7b\u9057\u4f20\u591a\u6837\u6027\uff0c\u8fdb\u800c\u6709\u52a9\u4e8e\u63ed\u793a\u4eba\u7c7b\u79cd\u7fa4\u4e4b\u95f4\u7684\u9057\u4f20\u5dee\u5f02\u548c\u76f8\u4f3c\u6027\uff0c\u4ece\u800c\u63d0\u4f9b\u66f4\u51c6\u786e\u7684\u57fa\u56e0\u7ec4\u53c2\u8003\u3002<\/p>\n\n\n\n

\u3000\u3000\u5b8c\u6574\u57fa\u56e0\u6d4b\u5e8f\u610f\u4e49\u975e\u51e1<\/p>\n\n\n\n

\u3000\u3000Y\u67d3\u8272\u4f53\u901a\u5e38\u4e0e\u751f\u7406\u6027\u522b\u4e3a\u7537\u6027\u7684\u4e2a\u4f53\u76f8\u5173\u8054\uff0c\u4f46\u5b83\u4e5f\u53ef\u80fd\u5b58\u5728\u4e8e\u96cc\u96c4\u540c\u4f53\u8005\u4e2d\u3002\u5c3d\u7ba1Y\u67d3\u8272\u4f53\u4e0a\u7684\u57fa\u56e0\u76f8\u5bf9\u8f83\u5c11\uff0c\u4f46\u8fd9\u4e9b\u57fa\u56e0\u590d\u6742\u4e14\u5904\u5728\u52a8\u6001\u53d8\u5316\u4e2d\uff0c\u5e76\u5177\u6709\u7f16\u7801\u7cbe\u5b50\u751f\u6210\u7b49\u91cd\u8981\u529f\u80fd\u3002\u5b8c\u6574\u7684Y\u67d3\u8272\u4f53\u53c2\u8003\u5e8f\u5217\u5c06\u4f7f\u79d1\u5b66\u5bb6\u80fd\u591f\u4ee5\u524d\u6240\u672a\u6709\u7684\u65b9\u5f0f\u66f4\u597d\u5730\u7814\u7a76\u4eba\u7c7b\u57fa\u56e0\u7ec4\u4e2dY\u67d3\u8272\u4f53\u7684\u5404\u79cd\u7279\u5f81\u3002<\/p>\n\n\n\n

\u3000\u3000\u7814\u7a76\u53d1\u73b0\uff0c\u4e0d\u540c\u4e2a\u4f53\u542b\u670910\u523040\u4e2aTSPY\u57fa\u56e0\u62f7\u8d1d\u3002\u4f8b\u5982\uff0c\u4e00\u540d\u7537\u5b50\u7684Y\u67d3\u8272\u4f53\u6709\u4e0e\u7cbe\u5b50\u5f62\u6210\u6709\u5173\u7684TSPY\u57fa\u56e0\u768423\u4e2a\u62f7\u8d1d\uff0c\u800c\u53e6\u4e00\u540d\u7537\u5b50\u5219\u670939\u4e2a\u62f7\u8d1d\u3002\u73b0\u5728\uff0c\u79d1\u5b66\u5bb6\u53ef\u4ee5\u4f7f\u7528\u65b0\u7684\u53c2\u8003\u56fe\u8c31\u548c\u5df2\u5efa\u7acb\u7684Y\u67d3\u8272\u4f53\u6d4b\u5e8f\u65b9\u6cd5\u66f4\u597d\u5730\u7814\u7a76\u8fd9\u79cd\u8fdb\u5316\u3002\u8fd9\u53ef\u80fd\u662f\u672a\u6765\u4f53\u5916\u53d7\u7cbe\u9886\u57df\u6216\u5176\u4ed6\u751f\u6b96\u548c\u4e0d\u5b55\u75c7\u9886\u57df\u7684\u7814\u7a76\u7126\u70b9\u3002<\/p>\n\n\n\n

\u3000\u3000\u5b8c\u6574\u7684\u3001\u65e0\u95f4\u9699\u7684Y\u67d3\u8272\u4f53\u5e8f\u5217\u5bf9\u4e8e\u7814\u7a76\u4eba\u7c7b\u7fa4\u4f53\u8fdb\u5316\u548c\u8fc1\u79fb\u81f3\u5173\u91cd\u8981\u3002\u6bdb\u4e9a\u98de\u8865\u5145\u8bf4\uff1a\u201c\u6211\u4eec\u4e0e\u7334\u5b50\u3001\u9ed1\u7329\u7329\u7b49\u6709\u5171\u540c\u7684\u6f14\u5316\u7ebf\u7d22\uff0c\u901a\u8fc7\u89e3\u6790\u57fa\u56e0\u7ec4\u53d8\u5316\uff0c\u53ef\u4ee5\u4e86\u89e3\u4eba\u7c7b\u662f\u5982\u4f55\u6f14\u5316\u800c\u6765\u7684\u3002\u201d<\/p>\n\n\n\n

\u3000\u3000\u201c\u6b64\u524d\uff0c\u4eba\u4eec\u5176\u5b9e\u5df2\u7ecf\u6839\u636eY\u67d3\u8272\u4f53\u7684\u57fa\u56e0\u7ec4\u8349\u56fe\u5b9a\u4f4d\u4e86\u8bb8\u591a\u4e0e\u96c4\u6027\u53d1\u80b2\u3001\u7cbe\u5b50\u751f\u6210\u7b49\u8fc7\u7a0b\u76f8\u5173\u7684\u57fa\u56e0\uff0c\u4e5f\u53d1\u73b0\u4e86Y\u67d3\u8272\u4f53\u4e0e\u8bf8\u5982\u764c\u75c7\u7b49\u75be\u75c5\u7684\u5173\u8054\uff1b\u800c\u6700\u8fd1\u53d1\u8868\u7684Y\u67d3\u8272\u4f53\u5b8c\u6574\u5e8f\u5217\u5c06\u4f1a\u4e3a\u63a2\u7d22\u8fd9\u4e9b\u533a\u57df\u5e8f\u5217\u7684\u529f\u80fd\u63d0\u4f9b\u624e\u5b9e\u7684\u6570\u636e\u57fa\u7840\u3002\u201d\u5468\u65f8\u6307\u51fa\uff0c\u201c\u65b0\u7814\u7a76\u4e5f\u8fdb\u4e00\u6b65\u63ed\u793a\u4e86\u4e2a\u4f53\u95f4Y\u67d3\u8272\u4f53\u7684\u5dee\u5f02\u3002\u8fd9\u4e9bY\u67d3\u8272\u4f53\u4e0a\u7684\u53d8\u5f02\u4ee5\u53ca\u4e0e\u4eba\u7c7b\u6027\u72b6\u7684\u5173\u8054\u5206\u6790\u5c06\u6709\u52a9\u4e8e\u4eba\u7fa4\u6f14\u5316\u3001\u9057\u4f20\u3001\u75be\u75c5\u7b49\u65b9\u9762\u7684\u7814\u7a76\u3002\u201d<\/p>\n\n\n\n

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