\u6587\u7ae0 |\u00a0\u57fa\u56e0\u6167\u00a0 \u00a0\u7f16\u8f91\u00a0| Shawne<\/div>\n
\u5173\u952e\u8bcd | NGS\u5927\u4f1a\u00a0\u4f1a\u8bae\u7b14\u8bb0<\/div>\n\n
\n![\"RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORc4zSjCxkFOpro5tC60F5P34Zyp9rKsqWUWd8N25LpEdzREss8iaJhgg\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORc4zSjCxkFOpro5tC60F5P34Zyp9rKsqWUWd8N25LpEdzREss8iaJhgg.jpeg\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u25b3\u5927\u4f1aBanner<\/div>\n
<\/div>\n
<\/div>\n
\uff08\u6ce8\uff1a\u4ee5\u4e0b\u4f1a\u8bae\u7b14\u8bb0\u672a\u7ecf\u8fc7\u6f14\u8bb2\u8005\u7684\u786e\u8ba4\uff0c\u4ec5\u4f9b\u53c2\u8003\uff09<\/div>\n
<\/div>\n
\u4e00\u3001\u4e3b\u529e\u65b9\u81f4\u8f9e<\/div>\n
<\/div>\n
\u4f5c\u4e3a\u5927\u4f1a\u4e3b\u529e\u65b9\u4e4b\u4e00\uff0c\u4e2d\u56fd\u751f\u7269\u533b\u5b66\u5de5\u7a0b\u5b66\u4f1a\u533b\u5b66\u68c0\u9a8c\u5de5\u7a0b\u5206\u4f1a\u4e3b\u4efb\u59d4\u5458\u5eb7\u7199\u96c4\u6559\u6388\uff0c\u56de\u987e\u4eceSARS\u53d1\u5c55\u5230\u65b0\u51a0\u75ab\u60c5\uff0c\u8c08\u5230NGS\u6280\u672f\u7684\u53d1\u5c55\u4ee5\u53ca\u5bf9\u533b\u7597\u5065\u5eb7\u548c\u516c\u5171\u536b\u751f\u7684\u4ef7\u503c\u548c\u4f7f\u547d\u3002<\/div>\n
<\/div>\n
<\/div>\n
\u7cbe\u51c6\u57fa\u56e0\u8463\u4e8b\u957f\u738b\u5b66\u521a\u5148\u751f\uff08\u5927\u4f1a\u4e3b\u6301\u4eba\u5218\u9759\u96c5\u4ee3\u53d1\u8a00\uff09\u4ece\u884c\u4e1a\u5386\u53f2\u51fa\u53d1\uff0c\u8c08\u5230\u884c\u4e1a\u4ece \u201cWhy\u201d\u3001 \u201cWhat\u201d\u00a0 \u53d1\u5c55\u5230\u5f53\u4e0b \u201cHow\u201d \u7684\u9636\u6bb5\uff0c\u540c\u65f6\u5f3a\u8c03\u4e86\u653f\u7b56\u3001\u6280\u672f\u3001\u4eba\u624d\u7684\u4e09\u5927\u8981\u7d20\uff0c\u7ed9\u4ece\u4e1a\u4eba\u58eb\u5e26\u6765\u521b\u65b0\u7684\u4ef7\u503c\u548c\u4f7f\u547d\u3002<\/div>\n
<\/div>\n
<\/div>\n
\u5927\u4f1a\u53d1\u8d77\u4eba\u57fa\u4e91\u60e0\u5eb7\u521b\u59cb\u4eba\u90dd\u5411\u7a33\u5148\u751f\uff0c\u4ece\u65b0\u51a0\u75ab\u60c5\u5bf9\u6280\u672f\u8981\u6c42\u548c\u63a8\u8fdb\uff0c\u8c08\u5230\u7b2c\u4e03\u5c4aN\u00b7GS\u521b\u65b0\u5f00\u53d1\u8005\u5927\u4f1a\u201c\u8d23\u4efb \u00b7 \u7a81\u7834\u201d\u7684\u4e3b\u9898\uff0c\u5728\u7279\u6b8a\u65f6\u671f\u4ee5\u4e24\u5730\u4f1a\u573a\u7ed9\u5927\u5bb6\u63d0\u4f9b\u4ea4\u6d41\u5e73\u53f0\u3002\u672c\u6b21\u5927\u4f1a\u7684\u4e3b\u8981\u5185\u5bb9\u5305\u62ec\u961f\u5217\u7814\u7a76\u3001\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u3001\u5355\u5206\u5b50\u6d4b\u5e8f\u3001\u5355\u7ec6\u80de\u884c\u7814\u62a5\u544a\u3001NGS\u9a71\u52a8\u7684\u65b0\u51a0\u9632\u63a7\u548c\u8840\u6db2\u75c5\u8bca\u7597\u7b49\u4e3b\u9898\u3002<\/div>\n
<\/div>\n
<\/div>\n
\n\n
\n![\"0?wx_fmt=jpeg\"\/](\"https:\/\/mmbiz.qlogo.cn\/mmbiz_jpg\/RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORfKsicRjD82QqW8fNGCf6PelL0learibaU4ibC3pNxDiapicJfyJPyz2DqzA\/0?wx_fmt=jpeg\")
<\/figure><\/div>\n\n<\/div>\n
\u25b3\u5927\u4f1a\u53d1\u8d77\u4eba\u3001\u57fa\u4e91\u60e0\u5eb7\u521b\u59cb\u4eba\u90dd\u5411\u7a33\u5148\u751f<\/div>\n
\uff08\u7167\u7247\/\u6765\u6e90\u4e3b\u529e\u65b9\uff0c\u4e0b\u540c\uff09<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\u4e8c\u3001\u5927\u4f1a\u62a5\u544a\u8981\u70b9<\/div>\n
<\/div>\n
<\/div>\n
\n\n
\n![\"RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORPsZh5iaNCDGsibWeaGuRw8d5r34yoaj8CnsbwThFHBh13fx3TicpxnPNA\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORPsZh5iaNCDGsibWeaGuRw8d5r34yoaj8CnsbwThFHBh13fx3TicpxnPNA.jpeg\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u25b3\u4e0a\u6d77\u745e\u91d1\u533b\u9662\u66f9\u4e9a\u5357\u535a\u58eb<\/div>\n
<\/div>\n
<\/div>\n
1.\u66f9\u4e9a\u5357 \u535a\u58eb\uff0c\u4e0a\u6d77\u745e\u91d1\u533b\u9662<\/div>\n
\u300aChinaMAP\uff1a\u4e2d\u56fd\u4ee3\u8c22\u89e3\u6790\u8ba1\u5212\u5168\u57fa\u56e0\u7ec4\u548c\u8868\u578b\u7814\u7a76\u300b<\/div>\n
<\/div>\n
1\uff09\u5168\u7403\u8d85\u5927\u89c4\u6a21\u524d\u77bb\u6027\u6d41\u884c\u75c5\u5b66\u7814\u7a76\u65b9\u9762\uff0c\u5f3a\u8c03\u6837\u672c\u7684\u65e0\u504f\u9009\u62e9\u3001\u5065\u5eb7\u8bb0\u5f55\u7684\u957f\u671f\u8ffd\u8e2a\u4ee5\u53ca\u6807\u51c6\u5316\u95ee\u9898\uff0c\u7279\u522b\u662f\u8868\u578b\u6570\u636e\u7684\u4ef7\u503c\uff0c\u5305\u62ec\u5f71\u50cf\u5b66\u3001\u968f\u8bbf\u6570\u636e\u7b49\u3002\u5927\u89c4\u6a21PRS\uff08\u9057\u4f20\u75c5\u98ce\u9669\u8bc4\u5206\uff09\u8981\u57fa\u4e8e\u5f88\u597d\u7684\u8868\u578b\u548cbase data\uff08\u57fa\u7ebf\u6570\u636e\uff09\u3002\u00a0<\/div>\n
<\/div>\n
2\uff09\u961f\u5217\u7814\u7a76\u5bf9\u6807BioBank\uff0c\u5176\u4ed6\u53c2\u8003\u7684\u961f\u5217\u7814\u7a76\u5305\u62ecExAC\u3001TOPMed\u3001DiscoverEHR\u3001deCODE\u548c23andme\u7684\u961f\u5217\u6570\u636e\u7b49\u3002\u00a0<\/div>\n
<\/div>\n
3\uff09\u65e9\u671f\u57fa\u4e8eGWAS\u7684Low-impact common variants\u5230\u5f53\u4e0b\u7684High-impact common variants\uff0c\u65b9\u6cd5\u5b66\u4e0a\u5305\u62ec\u9ad8\u6df1\u5ea6\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u3001\u57fa\u56e0\u82af\u7247\u3001\u5efa\u8bbe\u5927\u6570\u636e\u5e95\u5c42\u57fa\u7840\u8bbe\u65bd\u3001\u5b9e\u65f6\u5b9a\u91cfPCR\u548cCE\u7b49\u3002\u00a0<\/div>\n
<\/div>\n
4\uff09\u5e94\u7528\u65b9\u9762\uff0c\u9664\u4e86\u8f83\u4e3a\u5e38\u89c1\u7684\u836f\u7269\u9776\u70b9\u53d1\u73b0\uff0c\u8fd8\u5305\u62ec\u4eba\u7fa4\u57fa\u56e0\u53d8\u5f02\u5dee\u5f02\u7b49\u3002\u4f8b\u5982ChinaMAP\u4e00\u671f\u7814\u7a76\u53d1\u73b0\u6b27\u6d32\u4eba\u7fa4\u4e2d\u6700\u663e\u8457\u76842\u578b\u7cd6\u5c3f\u75c5\u9057\u4f20\u98ce\u9669TCF7L2\u57fa\u56e0\u53d8\u5f02\uff08\u5982rs7903146\uff09\u5728\u4e2d\u56fd\u4eba\u4e2d\u7684\u9891\u7387\u5f88\u4f4e\u3002\u5305\u62ec\u6bd4\u8f83\u65b0\u51a0\u76f8\u5173\u7684ACE2\u76f8\u5173\u53d8\u5f02\u7684\u5168\u7403\u6bd4\u8f83\u5206\u6790\u53d1\u73b0\u5728\u6240\u6709\u4eba\u7fa4\u90fd\u6613\u611f\u3002\u00a0<\/div>\n
<\/div>\n
5\uff09\u4e2d\u56fd\u4ee3\u8c22\u89e3\u6790\u8ba1\u5212\uff08ChinaMAP\uff09\u6db5\u76d6500\u4e07\u4efd\u6837\u672c\uff0c\u5305\u62ecDNA\u3001\u8840\u6d46\u8840\u6e05\u3001\u5c3f\u6db2\u3001\u553e\u6db2\u548c\u7caa\u4fbf\u7b49\uff0c\u5305\u62ec\u6807\u51c6\u5316\u4e34\u5e8a\u6570\u636e\uff081000\u9879\u6307\u6807\/\u6837\u672c\uff09\u548c\u4f53\u5916\u8bca\u65ad\u6570\u636e\uff08200\u9879\u6307\u6807\/\u6837\u672c\uff09\u7b49\u3002ChinaMAP\u4e00\u671f\u4e8e2020\u5e74\u4e0a\u534a\u5e74\u5b8c\u6210\uff0c\u83b7\u5f971.41\u4ebf\u4e2a\u9ad8\u8d28\u91cfSNP\u548cInDel\uff0c\u670950%\u662fNovel\u4f4e\u9891\u7a81\u53d8\uff0c\u53d1\u73b0\u4e0d\u540c\u5730\u57df\u7684\u5dee\u5f02\u548c\u4eba\u7fa4\u75be\u75c5\u53d8\u5f02\u7b49\uff08\u6bd4\u5982\u7532\u4ea2\u7532\u51cf\u5728\u4e1c\u4e9a\u4eba\u7fa4\u53d1\u75c5\u7387\u8f83\u9ad8\u7b49\uff09\uff0c\u4ece\u5934\u6784\u5efa\u8bbe\u8ba1\u4e86\u57fa\u4e8e\u4e2d\u56fd\u4eba\u7fa4\u7684\u57fa\u56e0\u82af\u7247\u3002\u6240\u6709\u7684\u6570\u636e\u90fd\u53ef\u4ee5\u5728\u7ebf\u67e5\u8be2\uff1amBiobank \uff08www.mBiobank.com\uff09\u3002<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\n\n
\n![\"RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORErNKtSEw1pxE4GePoFSGBKbszCdMkPvHDiaseIj5dEBXJoEFLp5vo3Q\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORErNKtSEw1pxE4GePoFSGBKbszCdMkPvHDiaseIj5dEBXJoEFLp5vo3Q.jpeg\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u25b3\u9999\u6e2f\u4e2d\u6587\u5927\u5b66\u8463\u6893\u745e\u535a\u58eb<\/div>\n
<\/div>\n
<\/div>\n
2.\u8463\u6893\u745e \u535a\u58eb\uff08\u4ee3\u66f9\u5149\u4f1f\u535a\u58eb\uff09\uff0c\u9999\u6e2f\u4e2d\u6587\u5927\u5b66\u00a0<\/div>\n
\u300a\u57fa\u4e8e\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u7684\u67d3\u8272\u4f53\u7ed3\u6784\u53d8\u5f02\u68c0\u6d4b\u65b9\u6cd5\u4e0e\u4e34\u5e8a\u5e94\u7528\u300b<\/div>\n
<\/div>\n
1\uff09\u4f20\u7edf\u57fa\u56e0\u82af\u7247\u7684\u5c40\u9650\uff0c\u5305\u62ecProbe density\u7684\u4f9d\u8d56\u6027\u4ee5\u53ca\u5bf9\u4e8e\u68c0\u6d4bmosaicism\u68c0\u6d4b\u7387\u7b49\u3002\u540c\u65f6\u63d0\u51fa\u9ad8\u6df1\u5ea6\u6d4b\u5e8f\u76ee\u524d\u4e34\u5e8a\u8fd8\u5b58\u5728\u6210\u672c\u548c\u6570\u636e\u5206\u6790\u7684\u6311\u6218\u3002<\/div>\n
<\/div>\n
2\uff09\u8463\u535a\u58eb\u6240\u5728\u56e2\u961f\u63d0\u51faLow-coverage and high-pass\u7684\u65b9\u6cd5\u3002\u901a\u8fc7standard deviation \u4ee5\u53ca\u5d4c\u5408\u6bd4\u4f8b\u7b49\u65b9\u6cd5\u548c\u7279\u70b9\u6765\u901a\u8fc7\u4f4e\u6df1\u5ea6\u6d4b\u5e8f\u68c0\u6d4bCNV\uff0c\u5e94\u7528\u4e8e\u4ea7\u524d\u8bca\u65ad\u3002<\/div>\n
<\/div>\n
3\uff09\u8463\u6893\u745e\u56e2\u961f\u548c\u5c71\u4e1c\u5927\u5b66\u5408\u4f5c\u5bf9\u53cd\u590d\u6d41\u4ea7\u6570\u636e1090\u5bf9\u592b\u5987\u8fdb\u884c\u5206\u6790\uff0c\u53d1\u73b0\u5012\u4f4d\u3001\u81f4\u75c5\u6027CNV\u7b49\u3002\u6574\u4f53\u4e0a\uff0c\u63d0\u9ad8\u7ed3\u6784\u91cd\u7ec4\u76844%\u7684\u68c0\u51fa\u7387\uff0c\u5e76\u964d\u4f4e\u76f8\u5e94\u6210\u672c\u3002<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\n\n
\n![\"RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORvHAXRC70icn3u8Nwf8icJ293OxeYzs2iboONwnJqicBGsPNKXlV9MLnLibg\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORvHAXRC70icn3u8Nwf8icJ293OxeYzs2iboONwnJqicBGsPNKXlV9MLnLibg.jpeg\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u25b3\u4e2d\u56fd\u79d1\u5b66\u9662\u6148\u7ef4\u654f\u7814\u7a76\u5458<\/div>\n
<\/div>\n
<\/div>\n
3.\u6148\u7ef4\u654f \u7814\u7a76\u5458\uff0c\u4e2d\u56fd\u79d1\u5b66\u9662\u5317\u4eac\u57fa\u56e0\u7ec4\u7814\u7a76\u6240\u00a0<\/div>\n
\u300a\u57fa\u4e8e\u591a\u7ec4\u5b66\u6280\u672f\u7684\u6ccc\u5c3f\u7cfb\u7edf\u80bf\u7624\u7cbe\u51c6\u533b\u5b66\u7814\u7a76\u300b\u00a0<\/div>\n
<\/div>\n
1\uff09\u8868\u89c2\u9057\u4f20\u5b66\u67b6\u8d77\u4e86\u57fa\u56e0\u4e0e\u73af\u5883\u4e4b\u95f4\u7684\u6865\u6881\uff0c\u4ee5\u53ca\u5728\u6ccc\u5c3f\u6027\u80bf\u7624\uff08\u524d\u5217\u817a\u764c\u3001\u8180\u80f1\u764c\uff09\u53d1\u751f\u8fc7\u7a0b\u8d77\u91cd\u8981\u4f5c\u7528\u3002\u4e0a\u5c3f\u8def\u5c3f\u8def\u4e0a\u76ae\u764c\uff08UTUC\uff09\u8bca\u65ad\u65f6\u5728\u4e2d\u56fd\u4eba\u7fa4\u53d1\u751f\u6bd4\u4f8b\u8f83\u9ad8\uff0c\u5176\u4e2d\u98df\u54c1\u6216\u836f\u54c1\u4e2d\u542b\u6709\u9a6c\u515c\u94c3\u9178\u7c7b\uff08AA\uff09\u690d\u7269\u6709\u5173\u3002<\/div>\n
<\/div>\n
2\uff09\u901a\u8fc7\u57fa\u56e0\u7ec4\u7a81\u53d8\u7279\u5f81\u5c06\u4e2d\u56fdUTUC\u60a3\u8005\u5206\u4e3a2\u4e2a\u4e9a\u578b\u3002\u5176\u4e2dAA Sig\u4e9a\u578b\u53d1\u73b0\u4e8e\u201c\u591a\u7076\u578b\u201d\u60a3\u8005\u4e2d\uff0c\u5c3f\u6db2cfDNA\u68c0\u6d4b\u5230AA Sig\uff0c\u53ef\u4ee5\u4f5c\u4e3a\u672f\u524d\u5206\u5b50\u6807\u8bb0\u7269\u3002\u800c\u4e14AA\u4e9a\u578b\u60a3\u8005\u6f5c\u5728\u5bf9\u514d\u75ab\u68c0\u67e5\u70b9\u6291\u5236\u5242\u6cbb\u7597\u66f4\u654f\u611f\uff0c\u80bf\u7624\u65b0\u751f\u6297\u539f\u66f4\u9ad8\u3002<\/div>\n
<\/div>\n
3\uff09\u6db2\u4f53\u6d3b\u68c0\u4e09\u5927\u6307\u6807\uff1a\u68c0\u6d4b\u7269\uff08\u8111\u810a\u6db2\u3001\u553e\u6db2\u3001\u80f8\u8154\u79ef\u6db2\u3001\u5c3f\u6db2\u7b49\uff09\u3001\u68c0\u6d4b\u6307\u6807\u548c\u673a\u5668\u5b66\u4e60\u7b97\u6cd5\u3002\u76ee\u524d\u7f3a\u4e4f\u4e34\u5e8a\u53ef\u7528\u80be\u764c\u6807\u8bb0\u7269\u3001\u524d\u5217\u817a\u764cPSA\u7279\u5f02\u6027\u5dee\u3001\u8180\u80f1\u764c\u7075\u654f\u5ea6\u548c\u7279\u5f02\u5ea6\u4e0d\u8db3\u3002\u800cCNA\u533a\u57df\u8f83\u5927\u91ca\u653e\u7684\u80bf\u7624\u6765\u6e90ctDNA\uff0c\u6709\u5229\u4e8e\u63d0\u9ad8\u68c0\u6d4b\u7075\u654f\u5ea6\u3002<\/div>\n
<\/div>\n
4\uff09\u56e2\u961f\u7814\u53d1UCDector\u7528\u673a\u5668\u5b66\u4e60\u7b97\u6cd5\u6784\u5efa\u5c3f\u8def\u4e0a\u76ae\u764c\u8bca\u65ad\u5206\u7c7b\u5668\uff0c\u5e73\u5747\u7075\u654f\u5ea686.5%\uff0c\u5e73\u5747\u7279\u5f02\u5ea694.7%\u3002\u76ee\u524d\u591a\u7c7b\u5206\u7c7b\u5668\u7684\u51c6\u786e\u7387\u8f83\u4f4e\uff08\u7ea670%\uff09\uff0c\u56e2\u961f\u6784\u5efa\u4e86\u4e8c\u7c7b\uff085mC\u548cCNA\uff09\u5206\u7c7b\u5668GUseek\u3002<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\n\n
\n![\"0?wx_fmt=jpeg\"\/](\"https:\/\/mmbiz.qlogo.cn\/mmbiz_jpg\/RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORStbg7Eodsia1UJRAPVWOCLmaM03LVWeNldibuB6GNlgqWPbUF8TicuurQ\/0?wx_fmt=jpeg\")
<\/figure><\/div>\n\n
\u25b3\u5357\u4eac\u5927\u5b66\u4e8e\u6c5d\u4f73\u535a\u58eb<\/div>\n
\u00a0<\/div>\n
4. \u4e8e\u6c5d\u4f73 \u535a\u58eb\uff08\u4ee3\u5e94\u8f76\u4f26\u6559\u6388\u300b\uff0c\u5357\u4eac\u5927\u5b66\u00a0<\/div>\n
\u300a\u7eb3\u7c73\u5b54\u9053\u5355\u5206\u5b50\u6280\u672f\u7684\u673a\u9047\u4e0e\u6311\u6218\u300b\u00a0<\/div>\n
1\uff09\u7eb3\u7c73\u5b54\u5355\u5206\u5b50\u6d4b\u5e8f\u57fa\u4e8e\u9ad8\u65f6\u95f4\u5206\u8fa8\u7387\u3001\u65e0\u6807\u8bb0\u548c\u9ad8\u901a\u91cf\u3001\u5355\u5206\u5b50\u6d4b\u91cf\u7684\u9700\u6c42\u3002\u57fa\u672c\u539f\u7406\u662f\uff0c\u5f53\u78b1\u57fa\u901a\u8fc7\u7eb3\u7c73\u5b54\u65f6\u4ea7\u751f\u79bb\u5b50\u6d41\u7684\u7535\u4fe1\u53f7\uff08\u5176\u4e2d\u5b54\u9053\u5927\u5c0f\u4e0e\u5355\u5206\u5b50\u5c3a\u5bf8\u5339\u914d\uff09\uff0c\u5bf9\u7535\u4fe1\u53f7\u8fdb\u884c\u7edf\u8ba1\u5206\u6790\uff08\u963b\u65ad\u65f6\u95f4\u3001\u963b\u65ad\u7535\u6d41\u3001\u4fe1\u53f7\u9891\u7387\u3001\u4fe1\u53f7\u5f62\u72b6\uff09\u3002\u00a0<\/div>\n
2\uff09\u7eb3\u7c73\u5b54\u6d4b\u5e8f\u7684\u6838\u5fc3\u6280\u672f\u662f\u5b54\u9053\u86cb\u767d\u30022014\u5e74\u7b2c\u4e00\u6b21\u591a\u80bd\u8fc7\u5b54\u8bd5\u9a8c\uff0c2019\u5e74\u7814\u53d1\u51fa\u7b2c\u4e00\u53f0\u8d85\u4f4e\u7535\u6d41\u68c0\u6d4b\u4eea\u5668\u3002\u76ee\u524d\u8bbe\u5907\u548c\u5206\u6790\u5df2\u7ecfready\uff0c\u6b63\u5728\u548c\u534e\u5927\u7b49\u8fdb\u884c\u5408\u4f5c\u4ea7\u4e1a\u5316\uff0c\u672c\u79d1\u4e8c\u5e74\u7ea7\u5b66\u751f\u7ecf\u8fc7\u4e24\u5929\u57f9\u8bad\u53ef\u4ee5\u64cd\u4f5c\u3002\u89e3\u51b3PolyA\u957f\u5ea6\u7684\u95ee\u9898\uff0c \u65e0\u9700\u9176\u53ef\u4ee5\u964d\u901f\uff0c\u4e14\u964d\u901f\u63d0\u9ad81000\u500d\uff0c\u8fbe\u52302\u6beb\u79d2\/\u78b1\u57fa\uff0c\u8d85\u7075\u654f\u8bc6\u522b\u4e0e\u4f20\u611f\uff0c\u5b9e\u73b0\u5355\u4e2a\u5206\u5b50\u9176\u964d\u89e3\u5b9e\u65f6\u76d1\u6d4b\u7b49\u3002\u00a0<\/div>\n
3\uff09\u9664\u4e86\u5355\u4e2a\u78b1\u57fa\u7684\u5206\u8fa8\uff0c\u53ef\u4ee5\u5b9e\u73b0\u5bf9\u6df7\u5408\u6837\u54c1\u7684DNA\u7532\u57fa\u5316\u3001DNA\u635f\u4f24\u68c0\u6d4b\uff0c\u5bf9DNA\u78f7\u9178\u5316\u9176\u548c\u86cb\u767d\u6fc0\u9176\u8fdb\u884c\u5206\u6790\u3001\u5355\u4e2a\u5206\u5b50\u52a8\u6001\u6298\u53e0\u8def\u5f84\u5206\u6790\u3001\u5355\u4e2a\u86cb\u767d\u8d28\u6d4b\u5e8f\u7814\u7a76\u3002\u672a\u6765\u5c06\u5728\u5355\u5206\u5b50\u6784\u60f3\u53d8\u5316\u52a8\u529b\u5b66\u3001\u5355\u5206\u5b50\u5408\u6210\u53ca\u5355\u7ec6\u80de\u8bca\u7597\u65b9\u9762\u8fdb\u884c\u8fdb\u4e00\u6b65\u7814\u7a76\u3002<\/div>\n
\u00a0<\/div>\n
5. \u8096\u4f20\u4e50 \u535a\u58eb\uff0c\u4e2d\u5c71\u5927\u5b66<\/div>\n
\u300a\u9ad8\u901a\u91cf\u5355\u5206\u5b50\u5355\u7ec6\u80de\u5168\u957f\u8f6c\u5f55\u7ec4\u6d4b\u5e8f\u6280\u672f\u5728\u89d2\u819c\u4fee\u590d\u4e2d\u7684\u5e94\u7528 \u300b<\/div>\n
1\uff09\u9488\u5bf9\u5355\u5206\u5b50\u6d4b\u5e8f\uff08\u4e09\u4ee3\u6d4b\u5e8f\uff0c\u4ee5PacBio\u548cONT\u4e3a\u4f8b\uff09\u7684\u5355\u7ec6\u80de\u8f6c\u5f55\u7ec4\u6d4b\u5e8f\uff0c\u6709\u6548\u901a\u91cf\u3001\u6210\u672c\u3001\u7cbe\u5ea6\u7b49\u65b9\u9762\u5747\u6709\u4f18\u52a3\uff0c\u56e0\u6b64\u63d0\u51fa\u591a\u4e2a\u8f6c\u5f55\u672c\u8fde\u63a5\u6210\u957f\u94fe\u5206\u5b50\u6784\u60f3\uff0c\u89e3\u51b3\u8f6c\u5f55\u672c\u5e73\u5747\u957f\u5ea6\u77ed\uff082k)\u4e0eCCS\u63d2\u5165\u7247\u6bb5\u957f\uff0815k\uff09\u7684\u77db\u76fe\uff1b\u540c\u65f6\u63d0\u51fa\u5355\u7ec6\u80de\u4e0d\u8c03\u53d6\uff08\u5168\u957f\uff09\u8fde\u63a5\u65b9\u6848\uff0c\u8fde\u63a5\u663e\u8457\u63d0\u9ad8\u4e86PacBio CSS\u52a0\u8f7d\u5e8f\u5217\u957f\u5ea6\u548c\u901a\u91cf\u3002<\/div>\n
2\uff09\u5bf9\u6bd4\u4e8c\u4ee3\u548c\u4e09\u4ee3\u6d4b\u5e8f\u6280\u672f\uff0c barcode\u548c\u57fa\u56e0\u8868\u8fbe\u91cf\u9ad8\u5ea6\u4e00\u81f4\uff0c\u4e8c\u4ee3\u548c\u4e09\u4ee3\u57fa\u4e8e\u57fa\u56e0\u8868\u8fbe\u91cf\u7ec6\u80de\u5206\u7fa4\u57fa\u672c\u4e00\u81f4\u3002\u00a0<\/div>\n
3\uff09\u5728\u773c\u89d2\u819c\u4fee\u590d\u8fc7\u7a0b\u5e94\u7528\u5355\u7ec6\u80de\u5206\u6790\uff0c\u53d1\u73b0\u6709\u5927\u91cf\u57fa\u56e0\u8868\u8fbe\u7684\u4e3b\u8981\u4e30\u5ea6isoform\u53d1\u751f\u4e86\u5207\u6362\uff0c\u9884\u793a\u7740\u89d2\u819c\u4fee\u590d\u8fc7\u7a0b\u4e2d\u72ec\u7279\u7684\u5206\u5b50\u673a\u5236\u3002<\/div>\n
\u00a0<\/div>\n
6. \u80e1\u6c5f \u5148\u751f \u5e0c\u671b\u7ec4\u79d1\u6280<\/div>\n
\u300aFast and accurate genome \u00a0assembly and polish tools for long reads\u300b<\/div>\n
1\uff09\u5355\u5206\u5b50\u6d4b\u5e8f\u76f8\u5bf9NGS\u7684\u7279\u70b9\u4e3b\u8981\u662f\u957f\u8bfb\u957f(2M\uff09\uff0c\u65e0\u9700PCR\u7ee7\u800c\u6ca1\u6709\u5e8f\u5217\u504f\u597d\u6027\uff0c\u9519\u8bef\u7387\u4e0a\u76ee\u524d\u5e73\u5747\u8fbe\u523085~95%\uff0c\u6821\u6b63\u540e97-99%\uff0810-15kb\uff09\uff0c HiFi\u6570\u636e\u8fbe\u523095%\uff0820-100kb\uff09\u3002\u00a0<\/div>\n
2\uff09\u5e0c\u671b\u7ec4\u7814\u53d1\u7684\u7ec4\u88c5\u8f6f\u4ef6NextDenovo\uff0c\u6821\u6b63\u540e\uff0c\u5305\u62ec\u5bf9\u5d4c\u5408\u4f53\u7684split\u548c\u9519\u8bef\u7387\u8f83\u9ad8\u7684\u5e8f\u5217kmer\u5206\u6790\u7b49\uff0c\u6bd4\u76ee\u524d\u4e3b\u6d41\u5355\u5206\u5b50\u5e8f\u5217\u7ec4\u88c5\u8f6f\u4ef6\u5feb20-80\u500d\uff0c\u51c6\u786e\u7387\u4e0a\uff0c\u4ee565x\u300110.92Gb\u3001 \u5e73\u5747\u957f\u5ea616.68kb\u7684\u6570\u636e\u4e3a\u4f8b\uff0c\u521d\u6b65\u7ec4\u88c5\u540eBUSCO assesment\u4e3a73.30%\uff0c\u6821\u5bf9\u540e\u8fbe\u523098.20%\uff0c\u6570\u636e\u6bd4\u5bf9\u7387\u7ea6\u4e3a98.51%\u3002<\/div>\n\n
\n![\"RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORzeoqw9uvyBZjPYgELaVhIbuSYyiaFlAFibFlhRD2pDFgwFhhH62I45ibQ\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBJIia5LoVOs2iaPHEODKtWORzeoqw9uvyBZjPYgELaVhIbuSYyiaFlAFibFlhRD2pDFgwFhhH62I45ibQ.jpeg\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n\u25b3\u4e07\u65d7\u4e1c\u535a\u58eb<\/div>\n
<\/div>\n
<\/div>\n
7. \u4e07\u65d7\u4e1c \u535a\u58eb\uff0c\u6316\u8c31\u667a\u80fd<\/div>\n
\u300a\u5982\u4f55\u5229\u7528NLP\u6280\u672f\u6316\u6398\u57fa\u56e0\u3001\u53d8\u5f02\u3001\u75be\u75c5\u3001\u836f\u7269\u4fe1\u606f\u53ca\u5176\u5173\u7cfb\u300b<\/div>\n
<\/div>\n
1\uff09\u6846\u67b6+\u6df1\u5ea6\u5b66\u4e60+\u8bed\u6cd5+\u4e13\u4e1a\u77e5\u8bc6\uff0c\u4ece\u7ed3\u6784\u5316\u5230\u6807\u51c6\u5316\u5230\u77e5\u8bc6\u56fe\u8c31\u3002\u56db\u5927\u7b97\u6cd5\uff1a\u81ea\u9002\u5e94\u5b9e\u4f53\u8bc6\u522b\uff0c\u542f\u53d1\u5f0f\u5173\u7cfb\u63d0\u53d6\uff08\u5df2\u7533\u8bf7\u4e13\u5229\uff09\uff0c\u53d8\u5f02HGVs\u6807\u51c6\u5316\uff0c\u5173\u7cfb\u667a\u80fd\u6821\u51c6\u3002<\/div>\n
<\/div>\n
2\uff09\u81ea\u4e3b\u7814\u53d1\u5de5\u5177ReadPaper\uff0c \u901a\u8fc7\u542f\u53d1\u5f0f\u7b97\u6cd5\uff0c\u57fa\u4e8e\u8bed\u4e49\u7684\u5b9e\u4f53\u5173\u7cfb\u63d0\u53d6\u65b9\u6cd5\uff0c\u6574\u5408\u4e86spacy\u6846\u67b6\uff0c\u6316\u6398\u57fa\u56e0\u3001\u53d8\u5f02\u3001\u75be\u75c5\u3001\u836f\u7269\u4fe1\u606f\u53ca\u5176\u5173\u7cfb\u3002\u5bf9\u6807\u5e73\u53f0PubTator\uff08\u7f8e\uff09\u3001Europe PMC\uff08\u6b27)\uff0c\u5e02\u573a\u5de5\u5177civicmine\u3001SemRep\u3002<\/div>\n
<\/div>\n
3\uff09ReadPaper\u6d41\u7a0b\uff1apdf\u5230\u6587\u672c\u63d0\u53d6\u3001\u6587\u672c\u7ed3\u6784\u5316\u3001\u5b9e\u4f53\u8bc6\u522b\/\u5b9e\u4f53\u5bf9\u9f50\u3001\u5173\u7cfb\u63d0\u53d6\u3001\u5173\u7cfb\u667a\u80fd\u6821\u5bf9\u5230\u77e5\u8bc6\u56fe\u8c31\u3002\u5e94\u7528\u573a\u666f\u5305\u62ec\uff1a\u57fa\u56e0\u75be\u75c5\u5173\u7cfb\u3001\u836f\u7269\u75be\u75c5\u5173\u7cfb\u3001\u57fa\u56e0\u836f\u7269\u5173\u7cfb\u3002<\/div>\n
<\/div>\n
<\/div>\n
\u5927\u4f1a\u4e13\u573a\u53ca\u8bba\u575b\u90e8\u5206\u7684\u4f1a\u8bae\u7b14\u8bb0\u5c06\u5728\u4e0b\u7bc7\u63a8\u6587\u5206\u4eab<\/div>\n
<\/div>\n
<\/div>\n
<\/div>\n
\u3010\u58f0\u660e\u3011\u6211\u4eec\u79c9\u6301\u4e13\u4e1a\u3001\u4e13\u6ce8\u3001\u8d4b\u80fd\u7684\u7406\u5ff5\u6536\u96c6\u3001\u5206\u6790\u6216\u53d1\u5e03\u4fe1\u606f\uff0c\u4f46\u7531\u4e8e\u65f6\u6548\u6027\u53ca\u884c\u4e1a\u7279\u6b8a\u6027\uff0c\u6240\u520a\u767b\u5185\u5bb9\u4ec5\u4f9b\u7814\u7a76\u53c2\u8003\uff0c\u4e0d\u4f5c\u4e3a\u51b3\u7b56\u4f9d\u636e\uff1b\u4ee5\u4e0a\u4fe1\u606f\u4e0d\u4ee3\u8868\u57fa\u56e0\u6167\u7684\u89c2\u70b9\uff1b\u201c\u57fa\u56e0\u6167\u201d\u520a\u767b\u7684\u539f\u521b\u5185\u5bb9\u7684\u77e5\u8bc6\u4ea7\u6743\u4e3a\u201c\u57fa\u56e0\u6167\u201d\u5546\u6807\u62e5\u6709\u8005\u53ca\u76f8\u5173\u6743\u5229\u4eba\u6240\u6709\uff1b\u6b22\u8fce\u8f6c\u8f7d\uff0c\u8f6c\u8f7d\u8bf7\u7533\u8bf7\u5e76\u6ce8\u660e\u6765\u6e90\u3002\u6b22\u8fce\u4e2a\u4eba\u53ca\u673a\u6784\u6295\u7a3f\u53ca\u5408\u4f5c\u3002<\/div>\n
<\/div>\n
<\/div>\n
\u00a0\u300a\u5355\u7ec6\u80de\u884c\u7814\u62a5\u544a\u300b\u7535\u5b50\u7248\u514d\u8d39\u9650\u91cf\u7533\u8bf7<\/div>\n
\u5728\u57fa\u56e0\u6167\u516c\u4f17\u53f7\u56de\u590d\u201c\u5355\u7ec6\u80de\u62a5\u544a\u201d<\/div>\n
\u6216\u8bc6\u522b\u4e0b\u65b9\u4e8c\u7ef4\u7801<\/div>\n
\u25bd<\/div>\n
\n\n
\n![\"RmFicvQBAkgA0PKyqXQ3ZNoIibxLNaZ23P9p70zEIsicdlaEY5iaVK4x5Ew51BEtDKeERaODibwjCDXqWScibXTIg6iaw\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgA0PKyqXQ3ZNoIibxLNaZ23P9p70zEIsicdlaEY5iaVK4x5Ew51BEtDKeERaODibwjCDXqWScibXTIg6iaw.jpeg\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n<\/div>\n
\u300a\u57fa\u56e0\u5927\u6570\u636e\u667a\u80fd\u751f\u4ea7\u53ca\u5206\u6790\u300b<\/div>\n
\u00a0\u884c\u7814\u62a5\u544a\u00a0 \u542f\u52a8\u5408\u4f5c<\/div>\n
\u25bd<\/div>\n
<\/div>\n
\n\n
\n![\"RmFicvQBAkgDZRqibgeGtaEnyVY01VBtgqhj7ciaA7yBdjqMcKlSpwVYqu7Pfx1Utf28ZkIf3dfLOQy4Es14Y5jjw\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgDZRqibgeGtaEnyVY01VBtgqhj7ciaA7yBdjqMcKlSpwVYqu7Pfx1Utf28ZkIf3dfLOQy4Es14Y5jjw.png\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n<\/div>\n
<\/div>\n
\u00a0\u5173\u4e8e\u57fa\u56e0\u6167\u00a0<\/div>\n
<\/div>\n
\u57fa\u56e0\u6167\u662f\u4e00\u5bb6\u6570\u5b57\u751f\u547d\u5065\u5eb7\u521b\u65b0\u670d\u52a1\u5e73\u53f0\uff0c\u4e13\u6ce8\u57fa\u56e0\u53ca\u6570\u5b57\u751f\u547d\u5065\u5eb7\u9886\u57df\uff0c\u521b\u7acb\u4e8e2016\u5e74\uff0c\u57fa\u4e8e10+\u5e74\u4ea7\u4e1a\u5b9e\u8df5\u3001\u521b\u7acb\u4e86\u4ea7\u4e1a\u6570\u636e\u5e93YourMap\u00ae \u548c\u8d44\u8baf\u5e73\u53f0\u57fa\u56e0\u6167\uff0c\u63d0\u4f9b\u57fa\u56e0\u7b49\u4ea7\u4e1a\u54a8\u8be2\u3001\u54c1\u724c\u53ca\u7b56\u5212\u670d\u52a1\uff0c\u5e2e\u52a9\u5408\u4f5c\u4f19\u4f34\u6d1e\u5bdf\u5e02\u573a\uff0c\u81f4\u529b\u4e8e\u5efa\u8bbe\u57fa\u56e0\u53ca\u6570\u5b57\u751f\u547d\u5065\u5eb7\u4ea7\u4e1a\u5927\u6570\u636e\u5e73\u53f0\uff0c\u670d\u52a1\u751f\u547d\u5065\u5eb7\u521b\u65b0\u521b\u4e1a\u3002<\/div>\n
<\/div>\n
\u2606\u00a0\u56fd\u53d1\u6539\u300a\u6218\u7565\u6027\u65b0\u5174\u4ea7\u4e1a\u53d1\u5c55\u5c55\u671b\u300b\u7f16\u59d4<\/a><\/div>\n
\u2606\u00a0\u53d1\u5e03\u6570\u5341\u4efd\u57fa\u56e0\u53ca\u76f8\u5173\u884c\u7814\u62a5\u544a<\/a><\/div>\n
\u2606\u00a0\u7ec4\u7ec7\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\uff08\u7b79\uff09\u53ca\u9996\u5c4a<\/a>\u548c\u7b2c\u4e8c\u5c4a<\/a>\u4f1a\u8bae<\/a><\/div>\n
\u2606\u4e2d\u56fd\u9057\u4f20\u5b66\u4f1a\u751f\u7269\u4ea7\u4e1a\u4fc3\u8fdb\u59d4\u5458\u4f1a\u59d4\u5458<\/div>\n
\u2606\u00a0\u4e3b\u529e\u6570\u5b57\u5065\u5eb7\u79c1\u8463\u4f1a<\/a>\u3001\u5927\u6e7e\u533a\u751f\u547d\u5065\u5eb7\u521b\u65b0\u8bba\u575b<\/a><\/div>\n
\u2606\u00a0\u53d1\u5e03\u57fa\u56e0\u884c\u4e1a\u4fe1\u606f\u5e73\u53f0\u4f18\u8109\u901aYourMap<\/a><\/div>\n
\u2606\u00a0\u53c2\u4e0e\u7ec4\u7ec7\u53d1\u5e03\u68c0\u6d4b\u62a5\u544a\u5171\u8bc6\u3001\u6d41\u7a0b\u5171\u8bc6\u548c\u56e2\u4f53\u6807\u51c6<\/a><\/div>\n
\u2606\u00a0\u53d7\u9080\u4e3a\u534e\u897f<\/a>\u3001Illumina<\/a>\u3001\u534e\u5927<\/a>\u3001\u4e0a\u6d77\u4ea4\u5927<\/a>\u7b49\u62a5\u544a<\/div>\n
\u2606\u00a0\u5e7f\u4e1c\u7701\u7cbe\u51c6\u533b\u7597\u5e94\u7528\u5b66\u4f1a\u653f\u7b56\u7814\u7a76\u5e94\u7528\u5206\u4f1a\u5e38\u52a1\u59d4\u5458<\/div>\n
\u2606\u00a0\u5e7f\u4e1c\u7701\u7cbe\u51c6\u533b\u7597\u5e94\u7528\u5b66\u4f1a\u9057\u4f20\u75c5\u5206\u4f1a\u5e38\u52a1\u59d4\u5458<\/div>\n
\n\n
\n![\"RmFicvQBAkgDwDDlibn6LGMERd60A1XgibkVTEVrPEb1EoTK1HnjticKMtrzWS4eyuZgibs4H2ErBL6cp0GRTKvEAkg\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgDwDDlibn6LGMERd60A1XgibkVTEVrPEb1EoTK1HnjticKMtrzWS4eyuZgibs4H2ErBL6cp0GRTKvEAkg.jpeg\")
<\/figure><\/div>","protected":false},"excerpt":{"rendered":"
<\/figure><\/div>","protected":false},"excerpt":{"rendered":"\u4f1a\u8bae\u7b14\u8bb0\u62a2\u9c9c\u770b<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[996],"tags":[1503],"class_list":["post-9081","post","type-post","status-publish","format-standard","hentry","category-news","tag-ngs"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9081","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=9081"}],"version-history":[{"count":3,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9081\/revisions"}],"predecessor-version":[{"id":13788,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9081\/revisions\/13788"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=9081"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=9081"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=9081"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}