{"id":9125,"date":"2020-03-22T17:00:51","date_gmt":"2020-03-22T09:00:51","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100013032&idx=1&sn=1e766259f6dbae62a4b2dc15202f50a8&chksm=6b71415f5c06c849d8a6c3c39bbcebe9c5118d2429ae859a266b14cf865c32d1eeafa72185da#rd"},"modified":"2026-04-02T10:19:18","modified_gmt":"2026-04-02T02:19:18","slug":"485356","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2020\/03\/22\/485356\/","title":{"rendered":"\u57fa\u56e0\u884c\u4e1a\u5171\u8bc6\uff08\u4e09\uff09 | \u4e34\u5e8a\u57fa\u56e0\u6570\u636e\u5206\u6790\u6d41\u7a0b\uff0c\u8f6c\u5316\u6570\u636e\u5230\u4ef7\u503c"},"content":{"rendered":"
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\"RmFicvQBAkgByk7ZThYxbTHAH2KtsY8o6XVHzCickCuTtxjd9PjpjiaHzciclnKUZqXUOEwYdiauib6Xic0DUPK99yAIA\"\/<\/figure><\/div>\n\n
\u57fa\u56e0\u6d4b\u5e8f\u6570\u636e\u5982\u4f55\u8f6c\u53d8\u4e3a\u4e34\u5e8a\u8bca\u7597\u8f85\u52a9\u4fe1\u606f\uff1f\u987b\u7ecf\u7531\u6570\u636e\u5206\u6790\uff0c\u4e5f\u79f0\u751f\u7269\u4fe1\u606f\u5206\u6790\u30022019\u5e745\u6708\u53ec\u5f00\u7684\u7b2c\u4e8c\u5c4a\u57fa\u56e0\u68c0\u6d4b\u8054\u76df\u4f1a\u8bae\u53ca\u4f1a\u540e\u591a\u65b9\u8ba8\u8bba\u8fbe\u6210\u300a\u9057\u4f20\u75c5\u4e8c\u4ee3\u6d4b\u5e8f\u4e34\u5e8a\u68c0\u6d4b\u5168\u6d41\u7a0b\u89c4\u8303\u5316\u5171\u8bc6\u63a2\u8ba8\u300b\uff0c\u8fd1\u65e5\u5728\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b\u56db\u7bc7\u540c\u671f\u520a\u53d1\uff0c\u57fa\u56e0\u6167\u7cfb\u5217\u62a5\u9053\u3002\u4ee5\u4e0b\u4e3a\u7b2c\u4e8c\u7bc7\u5185\u5bb9\u300a\u6570\u636e\u5206\u6790\u6d41\u7a0b\u300b\u6838\u5fc3\u5185\u5bb9\u3002<\/div>\n
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<\/div>\n
1. \u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u6d41\u7a0b\u7684\u5efa\u7acb<\/div>\n
\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u662f\u5c06\u6d4b\u5e8f\u83b7\u5f97\u7684\u78b1\u57fa\u5e8f\u5217\u8f6c\u6362\u4e3a\u9057\u4f20\u5b66\u8bed\u8a00\u7684\u8fc7\u7a0b\uff0c\u7531\u751f\u7269\u4fe1\u606f\u5b66\u5de5\u7a0b\u5e08\u7f16\u5199\u76f8\u5173\u6a21\u5757\u5e76\u7ec4\u5408\u642d\u5efa\u6d41\u7a0b\u3002\u9057\u4f20\u75c5\u57fa\u56e0\u68c0\u6d4b\u7684\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u6d41\u7a0b\u4e3b\u8981\u5305\u62ec\u6570\u636e\u8fc7\u6ee4\u3001\u5e8f\u5217\u6bd4\u5bf9\u3001\u53d8\u5f02\u68c0\u6d4b\u3001\u53d8\u5f02\u6ce8\u91ca\u548c\u76f8\u5173\u8d28\u63a7\u7edf\u8ba1\u7b49\u6b65\u9aa4\uff08\u56fe1\uff09\u3002<\/div>\n
\n\n
\n
\"RmFicvQBAkgByk7ZThYxbTHAH2KtsY8o69BA04fYSBjKiaAGTpEuR7oNPWQZqLe60yLL5LKnSf8OIr4T0y78YBicg\"\/<\/figure><\/div>\n\n
\u25b3\u56fe1\uff1a\u00a0\u57fa\u56e0\u6570\u636e\u5206\u6790\u6d41\u7a0b<\/div>\n
\uff08\u6765\u6e90\/\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b\uff09<\/div>\n
\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u79bb\u4e0d\u5f00\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\uff0c\u800c\u751f\u7269\u4fe1\u606f\u5b66\u7684\u53d1\u5c55\u53c8\u63a8\u52a8\u4e86\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u7684\u4e34\u5e8a\u5e94\u7528\u3002\u5728\u5145\u5206\u8bc4\u4f30\u7684\u524d\u63d0\u4e0b\uff0c\u5404\u5b9e\u9a8c\u5ba4\u53ef\u91c7\u53d6\u4e0d\u540c\u7684\u8f6f\u4ef6\u7ec4\u5408\u8fdb\u884c\u5206\u6790\uff0c\u5e38\u7528\u7684\u4fe1\u606f\u5206\u6790\u6d41\u7a0b\u53ca\u4f7f\u7528\u7684\u4e3b\u8981\u8f6f\u4ef6\/\u7a0b\u5e8f\uff08\u88681\uff09\u3002<\/div>\n
\u88681\u00a0\u5e38\u7528\u751f\u7269\u4fe1\u606f\u5206\u6790\u6d41\u7a0b\u8f6f\u4ef6\/\u7a0b\u5e8f\u6b65\u9aa4\u8f6f\u4ef6\/\u7a0b\u5e8f\uff08\u90e8\u5206\uff09\u8f93\u51fa\u7ed3\u679c\u8d28\u91cf\u63a7\u5236\n
SOAPnuke<\/div>\n
Trimgalore<\/div>\n
Cutadapt<\/div>\n
Trimmomatic<\/div>\n
Adapterremoval<\/div>\n
Flexbar<\/div>\n

\u8fc7\u6ee4\u4f4e\u8d28\u91cf\u63a5\u5934\u6c61\u67d3\u7cfb\u5217\u6bd4\u5bf9<\/p>\n

BWA<\/div>\n
Bowtie2<\/div>\n
SOAP2<\/div>\n
SAMtools<\/div>\n
Novoalign<\/div>\n
Maq<\/div>\n

\u5efa\u7acb\u7d22\u5f15\u540e\u7684BAM\u6587\u4ef6\u53d8\u5f02\u68c0\u6d4b<\/p>\n

SNV&Indel\u68c0\u6d4b<\/div>\n
GATK<\/div>\n
Sentieon<\/div>\n
Varscan2<\/div>\n
Mutec2<\/div>\n
FreeBayes<\/div>\n
\u00a0<\/div>\n
\u62f7\u8d1d\u6570\u53d8\u5f02<\/div>\n
\uff08Copy number variant, CNV\uff09\u68c0\u6d4b<\/div>\n
CNVkit<\/div>\n
XHMM<\/div>\n
CNVnator<\/div>\n
Exomdepth<\/div>\n
CONTRA<\/div>\n
\u00a0<\/div>\n
\u7ed3\u6784\u53d8\u5f02<\/div>\n
\uff08Structure variant\uff0cSV\uff09\u68c0\u6d4b<\/div>\n
CREST<\/div>\n
Lumpy<\/div>\n
Manta<\/div>\n
Breakdancer<\/div>\n

novoBreak<\/p>\n

\u7a81\u53d8\u96c6\uff08VCF\u683c\u5f0f\uff09<\/div>\n
CNV<\/div>\n
\u7ed3\u6784\u53d8\u5f02<\/div>\n

\u6570\u636e\u6ce8\u91ca<\/p>\n

ANNOVAR<\/div>\n
VEP<\/div>\n

SnpEff<\/p>\n

\u7a81\u53d8\u4f4d\u70b9\u8be6\u7ec6\u4fe1\u606f\u3001\u53d8\u5f02\u5bf9\u57fa\u56e0\u7684\u5f71\u54cd\u7b49\u4fe1\u606f<\/div>\n
\u25b3\u88681\uff1a\u00a0\u5e38\u7528\u751f\u7269\u4fe1\u606f\u5206\u6790\u6d41\u7a0b\u8f6f\u4ef6\/\u7a0b\u5e8f<\/div>\n
\uff08\u6765\u6e90\/\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b\uff0c\u5236\u8868\/\u57fa\u56e0\u6167\uff09<\/div>\n
\u00a0<\/div>\n
1.1 \u539f\u59cb\u6570\u636e\u8d28\u63a7\u548c\u8fc7\u6ee4<\/div>\n
\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u6d41\u7a0b\u901a\u5e38\u662f\u4ece\u6d4b\u5e8f\u6e90\u6587\u4ef6BCL\u8f6c\u5316\u597d\u7684FASTQ\u5f00\u59cb\uff0c\u5728FASTQ\u6587\u4ef6\u4e2d\uff0c\u6bcf\u6761\u8bfb\u53e5\u90fd\u5305\u542b4\u884c\uff0c\u6bcf\u6761\u8bfb\u53e5\u7684\u6bcf\u4e2a\u78b1\u57fa\u90fd\u6709\u5bf9\u5e94\u7684\u8d28\u91cf\u503c\uff0c\u9700\u6839\u636e\u8d28\u91cf\u503c\u5bf9\u6570\u636e\u8fdb\u884c\u8fc7\u6ee4\u3002\u9488\u5bf9\u9057\u4f20\u6027\u75be\u75c5\u68c0\u6d4b\u7684\u8d28\u63a7\u8fc7\u6ee4\u6761\u4ef6\u5efa\u8bae\u8bbe\u7f6e\u4e3a\uff1a<\/div>\n
1\uff09\u6ee4\u9664\u5224\u8bfb\u4e3aN\u7684\u78b1\u57fa\u5360\u6bd4\u8fbe\u523010%\u6216\u4ee5\u4e0a\u7684\u8bfb\u53e5\uff1b<\/div>\n
2\uff09\u6ee4\u9664\u8d28\u91cf\u503c\u4f4e\u4e8e5\u7684\u78b1\u57fa\u5360\u6bd4\u8fbe\u523050%\u7684\u8bfb\u53e5\uff1b<\/div>\n
3\uff09\u6ee4\u9664\u6574\u6761\u5e8f\u5217\u78b1\u57fa\u5e73\u5747\u8d28\u91cf\u503c\u4f4e\u4e8e10\u7684\u8bfb\u53e5\uff1b<\/div>\n
4\uff09\u622a\u53d6\u6216\u53bb\u9664\u542b\u6709\u63a5\u5934\u5e8f\u5217\u7684\u8bfb\u53e5\u3002<\/div>\n
\u00a0<\/div>\n
1.2 \u5e8f\u5217\u6bd4\u5bf9<\/div>\n
\u5e8f\u5217\u6bd4\u5bf9\u662f\u5c06\u6570\u636e\u8fc7\u6ee4\u540e\u4fdd\u7559\u4e0b\u6765\u7684\u5408\u683c\u8bfb\u53e5\u901a\u8fc7\u8f6f\u4ef6\u5b9a\u4f4d\u81f3\u57fa\u56e0\u7ec4\u76f8\u5e94\u4f4d\u7f6e\u7684\u8fc7\u7a0b\u3002<\/div>\n
\u9488\u5bf9\u77ed\u5e8f\u5217\u5e38\u7528\u7684\u6bd4\u5bf9\u8f6f\u4ef6\u6709BWA\u3001SOAPaligner\uff0c\u53c2\u8003\u5e8f\u5217\u53ef\u9009\u62e9GRCh37\u6216GRCh38\u3002\u6839\u636e\u5e73\u53f0\u7684\u6027\u8d28\u53ca\u5e94\u7528\uff0c\u6709\u4e0d\u540c\u7684\u6d4b\u5e8f\u6a21\u5f0f\u548c\u6d4b\u5e8f\u8bfb\u957f\uff0c\u4f1a\u4ea7\u751f\u53cc\u7aef\u6d4b\u5e8f\u548c\u5355\u7aef\u6d4b\u5e8f\u6570\u636e\uff0c\u5e38\u89c1\u6d4b\u5e8f\u8bfb\u957f\u53ef\u80fd\u4ece35bp\u5230150bp\uff0c\u968f\u7740\u6d4b\u5e8f\u6280\u672f\u7684\u53d1\u5c55\uff0c\u8bfb\u957f\u8fd8\u4f1a\u4e0d\u65ad\u589e\u52a0\u63d0\u9ad8\u4e8c\u4ee3\u6d4b\u5e8f\u6570\u636e\u5bf9\u53d8\u5f02\u68c0\u6d4b\u7684\u6027\u80fd\u3002\u4e0d\u540c\u7684\u6d4b\u5e8f\u8bfb\u957f\u9700\u901a\u8fc7\u5145\u5206\u6d4b\u8bc4\u9009\u62e9\u6bd4\u5bf9\u6d41\u7a0b\uff0c\u4ee5\u83b7\u5f97\u6700\u4f73\u7684\u6548\u679c\u3002\u5bf9\u4e8e70 bp\u4ee5\u4e0b\u7684\u8bfb\u957f\uff0c\u53ef\u91c7\u7528BWA-backtrack\u7b56\u7565\uff0c\u5bf9\u4e8e70 bp\u6216\u4ee5\u4e0a\u7684\u8bfb\u957f\uff0c\u5219\u5e94\u91c7\u7528BWA-MEM\u7b56\u7565\uff0c\u9700\u6839\u636e\u5b9e\u9645\u60c5\u51b5\u5145\u5206\u8bc4\u4f30\u8bc4\u68c0\u6d4b\u7684\u6027\u80fd\uff0c\u9009\u62e9\u9002\u7528\u7684\u8f6f\u4ef6\u3002\u00a0<\/div>\n
\u00a0<\/div>\n
\u5e8f\u5217\u6bd4\u5bf9\u7684\u8f93\u51fa\u7ed3\u679c\u6700\u5e38\u89c1\u7684\u5b58\u50a8\u683c\u5f0f\u4e3aBAM\/SAM\u6587\u4ef6\u4ee5\u53ca\u8f83\u65b0\u7684\u538b\u7f29\u683c\u5f0fCRAM\u53ca\u5176\u52a0\u5bc6\u538b\u7f29\u683c\u5f0fSECRAM\u3002SAM\u662fBAM\u7684\u975e\u538b\u7f29\u683c\u5f0f\uff0c\u6613\u4e8e\u6587\u672c\u64cd\u4f5c\u3002BAM\u662f\u76ee\u524d\u57fa\u56e0\u6570\u636e\u5206\u6790\u6700\u5e38\u7528\u7684\u6bd4\u5bf9\u6570\u636e\u5b58\u50a8\u683c\u5f0f\u3002BAM\u6587\u4ef6\u4e2d\u5305\u542b\u6bcf\u4e00\u6761\u8bfb\u53e5\u7684\u6bd4\u5bf9\u4fe1\u606f\u3002\u6bd4\u5bf9\u5b8c\u6210\u540e\uff0c\u9700\u53bb\u9664\u91cd\u590d\u7684\u8bfb\u53e5\uff0c\u4ee5\u514d\u5f71\u54cd\u4e0b\u4e00\u6b65\u7684\u5206\u6790\u548c\u6d4b\u5e8f\u8bc4\u4ef7\u6307\u6807\u7684\u7edf\u8ba1\u3002\u4e3a\u51cf\u5c11\u6d4b\u5e8f\u4eea\u6240\u9020\u6210\u7684\u7cfb\u7edf\u6027\u9519\u8bef\uff0c\u5efa\u8bae\u8fdb\u884c\u78b1\u57fa\u6821\u6b63\u6b65\u9aa4\uff0c\u53ef\u53c2\u8003GATK\u7684BQSR\u90e8\u5206\u3002<\/div>\n
\u00a0<\/div>\n
1.3\u00a0\u6d4b\u5e8f\u6570\u636e\u8d28\u63a7<\/div>\n
\u6570\u636e\u5206\u6790\u6d41\u7a0b\u5fc5\u987b\u5305\u542b\u6d4b\u5e8f\u6570\u636e\u8d28\u63a7\u8ba1\u7b97\u7684\u6b65\u9aa4\uff0c\u9700\u6839\u636e\u6bd4\u5bf9\u6587\u4ef6\u8ba1\u7b97\u76ee\u6807\u533a\u57df\u7684\u8986\u76d6\u5ea6\u3001\u5e73\u5747\u6df1\u5ea6\u3001\u91cd\u590d\u5e8f\u5217\u6bd4\u4f8b\u3001\u6bd4\u5bf9\u5230\u76ee\u6807\u533a\u57df\u7684\u8bfb\u53e5\u6bd4\u4f8b\u3001\u76ee\u6807\u533a\u57df\u6bcf\u4e2a\u78b1\u57fa\u7684\u6d4b\u5e8f\u6df1\u5ea6\u7b49\u6307\u6807\u6765\u8bc4\u4ef7\u6d4b\u5e8f\u7684\u8d28\u91cf\u3002\u57fa\u4e8e\u63a2\u9488\u6355\u83b7\u7684\u6d4b\u5e8f\u6570\u636e\u8fd8\u9700\u8981\u8ba1\u7b97\u6355\u83b7\u6548\u7387\uff08\u8d28\u63a7\u5206\u6790\u57fa\u672c\u4fe1\u606f\u89c1\u88682\uff09\u3002<\/div>\n
\u00a0<\/div>\n
\u8fd9\u4e00\u6b65\u7684\u5206\u6790\u6d41\u7a0b\u591a\u4e3a\u5b9e\u9a8c\u5ba4\u81ea\u4e3b\u7f16\u5199\u3002\u6d4b\u5e8f\u6570\u636e\u8d28\u91cf\u5c06\u76f4\u63a5\u5f71\u54cd\u68c0\u6d4b\u7ed3\u679c\u7684\u51c6\u786e\u6027\u3002\u5404\u5b9e\u9a8c\u5ba4\u9700\u8981\u9488\u5bf9\u6bcf\u5957\u68c0\u6d4b\u6d41\u7a0b\u7edf\u8ba1\u5404\u6d4b\u5e8f\u6307\u6807\u7684\u6b63\u5e38\u6ce2\u52a8\u8303\u56f4\uff0c\u786e\u5b9a\u8d28\u63a7\u9608\u503c\u5e76\u4e25\u683c\u6267\u884c\u3002<\/div>\n
\u00a0<\/div>\n
\u6d4b\u5e8f\u6307\u6807\u4e2d\u6700\u91cd\u8981\u7684\u8bc4\u4ef7\u6307\u6807\u4e3aQ30\u3001\u8986\u76d6\u5ea6\u548c\u5747\u4e00\u6027\uff0c\u5efa\u8bae\u8ba1\u7b971\u00d7\u30014\u00d7\u300110\u00d7\u300120\u00d7\u548c30\u00d7\u8986\u76d6\u5ea6\u6765\u8bc4\u4f30\u6d4b\u5e8f\u6548\u679c\uff0c\u540c\u65f6\u81f3\u5c11\u8ba1\u7b97\u5e73\u5747\u6df1\u5ea6\u768420%\u7684\u8986\u76d6\u5ea6\u6765\u8861\u91cf\u5747\u4e00\u6027\u3002\u8fd8\u53ef\u4ee5\u8ba1\u7b97\u53d8\u5f02\u7cfb\u6570\uff08coefficient of variation\uff0cCV\uff09\u6765\u53cd\u5e94\u6570\u636e\u5747\u4e00\u6027\uff0cCV\u503c\u8d8a\u5c0f\uff0c\u5747\u4e00\u6027\u8d8a\u9ad8\u3002\u9664\u76ee\u6807\u533a\u57df\u7684\u6574\u4f53\u53c2\u6570\u5916\uff0c\u8fd8\u9700\u8981\u5206\u57fa\u56e0\u6216\u5206\u76ee\u6807\u533a\u57df\u8ba1\u7b97\u8986\u76d6\u5ea6\uff0c\u9700\u8f93\u51fa\u57fa\u56e0\u8986\u76d6\u5ea6\u6570\u636e\u4f9b\u67e5\u8be2\uff0c\u5efa\u8bae\u8f93\u51fa\u5e73\u5747\u6d4b\u5e8f\u6df1\u5ea6<1\u548c\u5e73\u5747\u6d4b\u5e8f\u6df1\u5ea6<5\u7684\u76ee\u6807\u533a\u57df\u53ca\u5176\u5bf9\u5e94\u7684\u57fa\u56e0\u548c\u5916\u663e\u5b50\u7f16\u53f7\u5217\u8868\uff0c\u4ee5\u544a\u77e5\u5728\u8fd9\u4e9b\u533a\u57df\u672a\u88ab\u5f88\u597d\u8986\u76d6\uff0c\u53ef\u80fd\u6f0f\u8fc7\u8fd9\u4e9b\u533a\u57df\u7684\u7a81\u53d8\u60c5\u51b5\u3002\u5e94\u4f7f\u7528\u8db3\u591f\u91cf\u7684\u5b9e\u9645\u6837\u54c1\u5bf9\u6d4b\u5e8f\u8986\u76d6\u5ea6\u8fdb\u884c\u8bc4\u4f30\uff0c\u5728\u6240\u6709\u6d4b\u8bd5\u6837\u54c1\u4e2d\u5747\u65e0\u6cd5\u88ab\u8986\u76d6\u7684\u533a\u57df\u4e3a\u975e\u8986\u76d6\u533a\uff0c\u5e94\u4ece\u68c0\u6d4b\u8303\u56f4\u4e2d\u53bb\u9664\u3002\u00a0<\/div>\n
\u00a0<\/div>\n
\u4e8c\u4ee3\u6d4b\u5e8f\u6570\u636e\u4e2d\u5b58\u5728\u5e8f\u5217\u5b8c\u5168\u76f8\u540c\u7684\u8bfb\u53e5\uff0c\u79f0\u4e3a\u91cd\u590d\u5e8f\u5217\u3002\u6d4b\u5e8f\u6df1\u5ea6\u8d8a\u5927\uff0c\u8d8a\u5bb9\u6613\u4ea7\u751f\u4e00\u5b9a\u7a0b\u5ea6\u7684\u91cd\u590d\u3002\u8fd9\u90e8\u5206\u91cd\u590d\u8bfb\u53e5\u6240\u5360\u6bd4\u4f8b\u9700\u8981\u8fdb\u884c\u7edf\u8ba1\uff0c\u9700\u8981\u53bb\u9664\u540e\u518d\u8fdb\u884c\u4e0b\u4e00\u6b65\u5206\u6790\u3002\u00a0<\/div>\n
\u00a0<\/div>\n
\u5404\u5b9e\u9a8c\u5ba4\u9700\u9488\u5bf9\u6d4b\u5e8f\u6570\u636e\u8d28\u91cf\u5efa\u7acb\u81ea\u5df1\u7684\u6807\u51c6\u3002\u8d28\u91cf\u6807\u51c6\u4e00\u65e6\u5efa\u7acb\uff0c\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u5728\u6240\u6709\u7684\u68c0\u6d4b\u8fc7\u7a0b\u4e2d\u5747\u9700\u5728\u6b64\u6761\u4ef6\u4e0b\u8fdb\u884c\uff0c\u5728\u4e0b\u4e00\u4e2a\u8d28\u91cf\u6807\u51c6\u5efa\u7acb\u4e4b\u524d\u4e0d\u5f97\u968f\u610f\u6539\u53d8\u3002\u5728\u6d4b\u5e8f\u6570\u636e\u8d28\u91cf\u65e0\u6cd5\u8fbe\u5230\u8d28\u91cf\u6807\u51c6\u7684\u60c5\u51b5\u4e0b\uff0c\u9700\u5236\u5b9a\u9488\u5bf9\u4e0d\u8fbe\u6807\u6307\u6807\u7684\u5904\u7406\u548c\u6539\u8fdb\u65b9\u6848\uff0c\u5e76\u5bf9\u4e0d\u8fbe\u6807\u60c5\u51b5\u53ca\u5904\u7406\u8fdb\u884c\u8bb0\u5f55\u5907\u6848\u3002<\/div>\n<\/div>\n\n
\n
\"RmFicvQBAkgByk7ZThYxbTHAH2KtsY8o6ButNDj3wibschoxFmJOBqASsHDnSic7FQBvKqGkPstibbU3o8qeEDKWNA\"\/<\/figure><\/div>\n\n
\u25b3\u88682\uff1a\u00a0\u6d4b\u5e8f\u6570\u636e\u8d28\u63a7\u9879\u793a\u4f8b<\/div>\n
\uff08\u6765\u6e90\/\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b\uff09<\/div>\n
1.4\u00a0\u53d8\u5f02\u68c0\u6d4b<\/div>\n
\u53d8\u5f02\u68c0\u6d4b\u5206\u4e3a\u4e24\u5927\u7c7b\uff0c\u4e00\u7c7b\u662f\u5355\u78b1\u57fa\u53d8\u5f02\uff08single nucleotide variant\uff0cSNV\uff09\u548c\u5c0f\u63d2\u5165\u7f3a\u5931\u53d8\u5f02\uff08insertion and deletion\uff0cINDEL\uff09\uff1b\u53e6\u4e00\u7c7b\u662f\u67d3\u8272\u4f53\u6c34\u5e73\u7684\u7ed3\u6784\u53d8\u5f02\uff08structure variant\uff0cSV\uff09\uff0c\u5176\u4e2d\u62f7\u8d1d\u6570\u53d8\u5f02\uff08copy number variation\uff0cCNV\uff09\u6307\u8f83\u5927\u7247\u6bb5\u7684\u91cd\u590d\u6216\u7f3a\u5931\u53d8\u5f02\uff0c\u800cSV\u4e00\u822c\u6307\u9664CNV\u4ee5\u5916\u7684\u7ed3\u6784\u53d8\u5f02\u5982\u5e8f\u5217\u5012\u4f4d\u3001\u6613\u4f4d\u7b49\u3002\u5e38\u7528\u4e8e\u68c0\u6d4bSNV\u548cINDEL\u7684\u8f6f\u4ef6\u662fGATK\u548cSMAtools\u7b49\u3002<\/div>\n
\u00a0<\/div>\n
\u7531\u4e8e\u68c0\u6d4b\u7b56\u7565\u7684\u5dee\u5f02\uff0c\u4e0d\u540c\u8f6f\u4ef6\u7684\u68c0\u6d4b\u7ed3\u679c\u5f80\u5f80\u5b58\u5728\u4e00\u5b9a\u7684\u5dee\u522b\uff0c\u76f8\u540c\u8f6f\u4ef6\u4e0d\u540c\u7684\u53c2\u6570\u8bbe\u7f6e\u540c\u6837\u4f1a\u5bfc\u81f4\u68c0\u6d4b\u7ed3\u679c\u7684\u5dee\u5f02\u3002\u68c0\u6d4bCNV\u548cSV\u53ef\u6839\u636e\u5b9e\u9645\u5e94\u7528\u76ee\u7684\u91c7\u53d6\u4e0d\u540c\u7684\u6d41\u7a0b\uff0c\u76ee\u524d\u5e38\u7528\u7684\u68c0\u6d4b\u7b56\u7565\u5305\u62ec\u57fa\u4e8e\u6df1\u5ea6\u5dee\u522b\u3001\u65ad\u70b9\u68c0\u6d4b\u3001\u57fa\u4e8ePE\u5173\u7cfb\u7684\u8bfb\u53e5\u8ddd\u79bb\u7edf\u8ba1\u548c\u91cd\u7ec4\u88c5\u7b56\u7565\uff0c\u5bf9\u4e8e\u9ad8\u6df1\u5ea6\u6d4b\u5e8f\u8fd8\u53ef\u4ee5\u901a\u8fc7\u8ba1\u7b97SNP\u7684\u652f\u6301\u8bfb\u53e5\u6bd4\u4f8b\u6765\u68c0\u6d4bCNV\u3002\u5e38\u7528\u7684\u68c0\u6d4b\u8f6f\u4ef6\u5305\u62ecCNVkit\u3001XHMM\u3001CNVnator\u7b49\uff0c\u68c0\u6d4bSV\u7684\u8f6f\u4ef6\u5305\u62ecLUMPY\u3001BreakDancer\u7b49\u3002<\/div>\n
\u00a0<\/div>\n
\u5b9e\u9a8c\u5ba4\u9700\u6df1\u5165\u4e86\u89e3\u6240\u91c7\u7528\u7684CNV\u5206\u6790\u6d41\u7a0b\u7684\u539f\u7406\uff0c\u5bf9\u4e8e\u57fa\u4e8e\u6d4b\u5e8f\u6df1\u5ea6\u6bd4\u8f83\u539f\u7406\u7684CNV\u68c0\u6d4b\u6d41\u7a0b\uff0c\u5e94\u5c3d\u53ef\u80fd\u4f7f\u7528\u540c\u6279\u6b21\u540c\u8bd5\u9a8c\u5efa\u5e93\u65b9\u6848\u7684\u5bf9\u7167\u6837\u672c\u505a\u5206\u6790\uff0c\u6027\u67d3\u8272\u4f53\u7684CNV\u9700\u8981\u7528\u540c\u6027\u522b\u7684\u5bf9\u7167\u6837\u672c\u505a\u5206\u6790\u3002\u82e5\u65e0\u540c\u6279\u6b21\u6570\u636e\u53ef\u4f9b\u4f7f\u7528\uff0c\u5219\u9700\u9009\u62e9\u540c\u4e00\u5b9e\u9a8c\u4f53\u7cfb\uff08\u5982\u6355\u83b7\u82af\u7247\u3001\u5efa\u5e93\u8bd5\u5242\u7b49\uff09\u7684\u68c0\u6d4b\u6570\u636e\u4f5c\u4e3a\u5bf9\u7167\u6837\u54c1\u3002\u5efa\u8bae\u901a\u8fc7CV\u503c\u76d1\u6d4b\u6bcf\u6279\u6d4b\u5e8f\u6570\u636e\u7684\u8986\u76d6\u5747\u4e00\u6027\u3002\u5982\u679c\u8986\u76d6\u5747\u4e00\u6027\u5206\u5e03\u4e0e\u6027\u80fd\u786e\u8ba4\u65f6\u5dee\u5f02\u8f83\u5927\uff0c\u6216\u672a\u8fbe\u5230\u8bbe\u5b9a\u8981\u6c42\uff0c\u5219\u63d0\u793a\u68c0\u6d4b\u7ed3\u679c\u5b58\u5728\u5f02\u5e38\uff0c\u4e5f\u964d\u4f4e\u4e86\u7ed3\u679c\u7684\u53ef\u9760\u6027\uff0c\u9700\u6392\u67e5\u539f\u56e0\u3002\u6b64\u5916\uff0c\u9488\u5bf9\u57fa\u4e8e\u4e8c\u4ee3\u6d4b\u5e8f\u6570\u636e\u68c0\u51fa\u7684CNV\u6216SV\u7ed3\u679c\uff0c\u5efa\u8bae\u7ed3\u5408\u5b9e\u9645\u60c5\u51b5\u4f7f\u7528\u5176\u4ed6\u68c0\u6d4b\u6280\u672f\u5982array CGH\u3001MLPA\u3001qPCR\u548cFISH\u7b49\u5bf9\u4e0e\u8868\u578b\u5173\u8054\u53d8\u5f02\u8fdb\u884c\u9a8c\u8bc1\uff0c\u5b9e\u9a8c\u5ba4\u4e0e\u4e34\u5e8a\u9700\u8981\u5171\u540c\u63a2\u8ba8\u62a5\u544a\u62ab\u9732\u53ca\u7ed3\u679c\u7684\u9a8c\u8bc1\u65b9\u6848\u3002<\/div>\n
\u00a0<\/div>\n
1.5 \u53d8\u5f02\u6ce8\u91ca<\/div>\n
\u53d8\u5f02\u6ce8\u91ca\u662f\u6839\u636e\u53d8\u5f02\u57fa\u56e0\u6240\u5728\u57fa\u56e0\u7ec4\u5750\u6807\u8303\u56f4\u5bf9\u53d8\u5f02\u4f4d\u70b9\u5173\u8054\u5177\u4f53\u7684\u53d8\u5f02\u540d\u79f0\u3001\u53d8\u5f02\u7c7b\u578b\u548c\u53ef\u4f9b\u4e0b\u4e00\u6b65\u53d8\u5f02\u81f4\u75c5\u6027\u89e3\u8bfb\u53c2\u8003\u7684\u4fe1\u606f\u7684\u8fc7\u7a0b\u3002\u53ef\u4f7f\u7528\u5f00\u6e90\u8f6f\u4ef6\u6216\u81ea\u4e3b\u5f00\u53d1\u7684\u6d41\u7a0b\u5bf9\u53d8\u5f02\u8fdb\u884c\u6ce8\u91ca\uff0c\u8f83\u5e38\u7528\u7684\u6ce8\u91ca\u8f6f\u4ef6\u6709ANNOVAR\u7b49\u3002\u6ce8\u91ca\u6d41\u7a0b\u5e94\u5305\u62ec\u53d8\u5f02\u57fa\u672c\u4fe1\u606f\u3001\u57fa\u56e0\u76f8\u5173\u7684\u75be\u75c5\u4fe1\u606f\u3001\u6b63\u5e38\u4eba\u7fa4\u9891\u7387\u3001\u75be\u75c5\u6570\u636e\u5e93\u6536\u5f55\u60c5\u51b5\u3001\u8f6f\u4ef6\u9884\u6d4b\u7ed3\u679c\u7b49\u57fa\u672c\u5185\u5bb9\u3002<\/div>\n
\u00a0<\/div>\n
\u4eba\u7fa4\u9891\u7387\u6570\u636e\u5e93\u9700\u5305\u62ec\u5e38\u89c1\u7684\u516c\u7528\u6570\u636e\u5e93\uff0c\u5982\u5343\u4eba\u57fa\u56e0\u7ec4\u3001dbSNP\u3001ExAC\u3001gnomAD\u7b49\u3002\u540c\u65f6\u5404\u5b9e\u9a8c\u5ba4\u53ef\u96c6\u5408\u81ea\u4e3b\u6784\u5efa\u7684\u672c\u5730\u9891\u7387\u5e93\uff0c\u4f7f\u7528\u9891\u7387\u5bf9\u7279\u5f02\u6027\u7684\u9ad8\u9891\u7a81\u53d8\u548c\u9057\u4f20\u80cc\u666f\u76f8\u4f3c\u4eba\u7fa4\u7684\u9ad8\u9891\u7a81\u53d8\u8fdb\u884c\u7b5b\u9009\u3002\u6ce8\u91ca\u53d8\u5f02\u9700\u53c2\u8003HGVS\u6700\u65b0\u547d\u540d\u89c4\u5219\uff0c\u8f6c\u5f55\u672c\u9009\u62e9\u5efa\u8bae\u4f18\u5148\u4f7f\u7528\u7ed3\u5408ClinVar\u3001HGMD\u548cRefSeq\u6570\u636e\u5e93\u4e2d\u8bb0\u5f55\u7684\u5019\u9009\u8f6c\u5f55\u672c\u3002\u5bf9\u4e8e\u5b58\u5728\u591a\u4e2a\u8f6c\u5f55\u672c\u7684\u57fa\u56e0\uff0c\u9700\u8c28\u614e\u9009\u62e9\u6709\u751f\u7269\u5b66\u610f\u4e49\u6216\u7ecf\u7814\u7a76\u786e\u8ba4\u4e0e\u75be\u75c5\u76f8\u5173\u7684\u8f6c\u5f55\u672c\uff0c\u53ef\u53c2\u8003\u7f8e\u56fd\u56fd\u7acb\u751f\u7269\u6280\u672f\u4fe1\u606f\u4e2d\u5fc3\uff08National Center for Biotechnology Information\uff0cNCBI\uff09\u548cEMBI-EBI\u7684Matched Annotation from NCBI and EMBL-EBI\uff08MANE\uff09\u9879\u76ee\u548cA Locus Reference Genomic\uff08LRG\uff09\u63a8\u8350\u7684\u8f6c\u5f55\u672c\u3002<\/div>\n
\u00a0<\/div>\n
2. \u751f\u7269\u4fe1\u606f\u5206\u6790\u6d41\u7a0b\u7684\u6027\u80fd\u786e\u8ba4<\/div>\n
\u539f\u5219\u4e0a\u4e0d\u540c\u5b9e\u9a8c\u5ba4\u53ef\u4ee5\u4f7f\u7528\u4e0d\u540c\u7684\u8f6f\u4ef6\/\u7a0b\u5e8f\u5b8c\u6210\u6570\u636e\u5206\u6790\u6d41\u7a0b\uff0c\u4f46\u9700\u8981\u5bf9\u5f00\u6e90\u6216\u81ea\u5df1\u5f00\u53d1\u7684\u5206\u6790\u8f6f\u4ef6\u8fdb\u884c\u6027\u80fd\u786e\u8ba4\uff0c\u786e\u8ba4\u5176\u53ef\u9760\u6027\u548c\u51c6\u786e\u6027\uff0c\u5e76\u4e14\u6d4b\u8bd5\u53c2\u6570\u3001\u73af\u5883\u548c\u5b9e\u9645\u5e94\u7528\u8981\u4fdd\u6301\u4e00\u81f4\u3002<\/div>\n
\u00a0<\/div>\n
\u9a8c\u8bc1\u65f6\u9700\u9488\u5bf9\u6837\u672c\u7c7b\u578b\uff08\u5916\u5468\u8840\u3001\u7ec4\u7ec7\u3001\u553e\u6db2\u7b49\uff09\u6216\u68c0\u6d4b\u53d8\u5f02\u7c7b\u578b\u5206\u522b\u6d4b\u8bd5\u5176\u654f\u611f\u6027\uff0c\u7279\u5f02\u6027\u548c\u91cd\u590d\u6027\uff0c\u9a8c\u8bc1\u62a5\u544a\u53ca\u539f\u59cb\u8bb0\u5f55\u5e94\u53ef\u4f9b\u67e5\u8be2\u3002\u5efa\u8bae\u7528\u6807\u51c6\u6837\u672c\uff08\u5982GIAB\u7684NA12878\u7ec6\u80de\u682a\uff09\u548c\u5df2\u77e5\u68c0\u6d4b\u7ed3\u679c\u7684\u9633\u6027\u6837\u54c1\u5bf9\u751f\u4fe1\u5206\u6790\u6d41\u7a0b\u8fdb\u884c\u6027\u80fd\u786e\u8ba4\u3002<\/div>\n
\u00a0<\/div>\n
\u751f\u4fe1\u5206\u6790\u6d41\u7a0b\u6240\u91c7\u7528\u7684\u8f6f\u4ef6\u7248\u672c\u3001\u53c2\u6570\u3001\u6570\u636e\u5e93\u7248\u672c\u3001\u8fc7\u6ee4\u6761\u4ef6\u7b49\u5747\u9700\u4ee5\u6837\u672c\u4e3a\u5355\u4f4d\u8fdb\u884c\u8be6\u7ec6\u8bb0\u5f55\uff0c\u505a\u5230\u53ef\u8ffd\u6eaf\u3002\u751f\u4fe1\u5206\u6790\u6d41\u7a0b\u4e2d\u5e94\u5305\u542b\u81f3\u5c11\u4e24\u79cd\u6837\u672c\u552f\u4e00\u8bc6\u522b\u7801\uff0c\u51cf\u5c11\u591a\u6b65\u9aa4\u5206\u6790\u53ef\u80fd\u51fa\u73b0\u7684\u6837\u672c\u6df7\u6dc6\u7b49\u3002<\/div>\n
\u00a0<\/div>\n
\u751f\u4fe1\u5206\u6790\u6d41\u7a0b\u9700\u786e\u4fdd\u88ab\u68c0\u6d4b\u8005\u5065\u5eb7\u4fe1\u606f\u7684\u5b89\u5168\uff0c\u5e76\u9075\u5b88\u5404\u9879\u6cd5\u5f8b\u548c\u76d1\u7ba1\u89c4\u5b9a\u3002\u5f53\u751f\u4fe1\u5206\u6790\u6d41\u7a0b\u7248\u672c\u66f4\u65b0\u6216\u4fee\u6539\u540e\uff0c\u9700\u91cd\u65b0\u5bf9\u4fee\u6539\u540e\u7684\u5206\u6790\u6d41\u7a0b\u8fdb\u884c\u5168\u9762\u7684\u6d4b\u8bd5\u548c\u9a8c\u8bc1\uff0c\u5e76\u8bb0\u5f55\u7ed3\u679c\uff0c\u7b26\u5408\u8981\u6c42\u540e\u65b9\u53ef\u5bf9\u751f\u4ea7\u73af\u5883\u8fdb\u884c\u66f4\u65b0\uff0c\u5e76\u5bf9\u8fc7\u7a0b\u8fdb\u884c\u8bb0\u5f55\u3002<\/div>\n
\u00a0<\/div>\n
3. \u6570\u636e\u4fdd\u5b58\u4e0e\u83b7\u53d6<\/div>\n
\u4e8c\u4ee3\u6d4b\u5e8f\u68c0\u6d4b\u4f1a\u4ea7\u751f\u5927\u91cf\u7684\u6570\u636e\u3002\u4e00\u4efd\u6837\u54c1\u7684\u90e8\u5206\u57fa\u56e0\u7684\u9776\u5411\u6d4b\u5e8f\uff08panel\uff09\u6570\u636e\u6587\u4ef6\u6570\u636e\u91cf\u5373\u53ef\u8fbe\u82e5\u5e72Gb\uff0c\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u6570\u636e\u6587\u4ef6\u6570\u636e\u91cf\u53ef\u8d85\u8fc710 Gb\uff0c\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u6570\u636e\u6587\u4ef6\u6570\u636e\u91cf\u53ef\u8fbe\u4e0a\u767eGb\u3002\u5982\u4f55\u4fdd\u5b58\u8fd9\u4e9b\u6570\u636e\u5df2\u6210\u4e3a\u6574\u4e2a\u884c\u4e1a\u9700\u8981\u8003\u8651\u7684\u95ee\u9898\u3002<\/div>\n
3.1 \u6570\u636e\u7684\u5b89\u5168\u6027<\/div>\n
\u53d7\u68c0\u8005\u7684\u57fa\u56e0\u68c0\u6d4b\u6570\u636e\u53ef\u5305\u542b\u60a3\u8005\u7684\u4e2a\u4f53\u7279\u5f81\u548c\u53ef\u8bc6\u522b\u4fe1\u606f\uff0c\u539f\u5219\u4e0a\u6240\u6709\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u5747\u5c5e\u4e8e\u53d7\u68c0\u8005\u7684\u9690\u79c1\u3002\u672a\u7ecf\u53d7\u68c0\u8005\u540c\u610f\uff0c\u4e0d\u5f97\u516c\u5f00\u60a3\u8005\u7684\u68c0\u6d4b\u4fe1\u606f\u3002\u53d7\u68c0\u4eba\u8981\u6c42\u5220\u9664\u5176\u6837\u54c1\u6765\u6e90\u6570\u636e\u65f6\uff0c\u5e94\u4e88\u4ee5\u5220\u9664\u3002<\/div>\n
\u00a0<\/div>\n
3.2\u00a0\u4fdd\u5b58\u65f6\u9650<\/div>\n
\u4e8c\u4ee3\u6d4b\u5e8f\u4f1a\u4ea7\u751f\u591a\u4e2a\u6587\u4ef6\uff0c\u5305\u62ec\u539f\u59cb\u6d4b\u5e8f\u6570\u636eFASTQ\u6587\u4ef6\u3001\u6bd4\u5bf9\u4ea7\u751f\u7684BAM\u6587\u4ef6\u3001\u68c0\u6d4b\u53d8\u5f02\u540e\u7684VCF\u6587\u4ef6\u548c\u6700\u7ec8\u7684\u7ed3\u679c\u62a5\u544a\u5355\uff0c\u5efa\u8bae\u5c06\u8fd9\u4e9b\u6587\u4ef6\u90fd\u8fdb\u884c\u4e00\u6bb5\u65f6\u95f4\u7684\u4fdd\u5b58\u4ee5\u65b9\u4fbf\u6570\u636e\u56de\u987e\u548c\u91cd\u5206\u6790\u3002<\/div>\n
\u00a0<\/div>\n
FASTQ\u6587\u4ef6\u548cBAM\u6587\u4ef6\u53ef\u4ee5\u91cd\u65b0\u5206\u6790\uff0c\u4f46\u8f83\u5927\uff1bVCF\u6587\u4ef6\u76f8\u5bf9\u8f83\u5c0f\uff0c\u867d\u4e0d\u53ef\u91cd\u5934\u8fdb\u884c\u5206\u6790\uff0c\u4f46\u5305\u542b\u6240\u6709\u7684\u53d8\u5f02\u4fe1\u606f\u3002\u76ee\u524d\u56fd\u5185\u5bf9\u6570\u636e\u7684\u4fdd\u7559\u65f6\u95f4\u6ca1\u6709\u5f3a\u5236\u6027\u89c4\u5b9a\u3002\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u57fa\u56e0\u7ec4\u5b66\u5b66\u4f1a\uff08American College of Medical Genetics and Genomics\uff0cACMGG\uff09\u6307\u5357\u5efa\u8baeFASTQ\u548cBAM\u6587\u4ef6\u6309\u7167CLIA\u8981\u6c42\u6700\u5c11\u4fdd\u5b582\u5e74\u4ee5\u4e0a\uff0cVCF\u6587\u4ef6\u548c\u6700\u7ec8\u7684\u7ed3\u679c\u62a5\u544a\u5355\u5efa\u8bae\u6c38\u4e45\u6216\u5c3d\u53ef\u80fd\u957f\u671f\u4fdd\u5b58\u3002<\/div>\n
\u00a0<\/div>\n
\u5404\u5b9e\u9a8c\u5ba4\u53ef\u53c2\u8003\u7f8e\u56fd\u7684\u6307\u5357\uff0c\u89c6\u60c5\u51b5\u5728\u6807\u51c6\u4f5c\u4e1a\u7a0b\u5e8f\uff08Standard Operation Procedure\uff0cSOP\uff09\u4e2d\u660e\u786e\u4fdd\u5b58\u6587\u4ef6\u7c7b\u578b\u548c\u5468\u671f\uff0c\u5efa\u8baeFASTQ\u548cBAM\u6587\u4ef6\u6700\u5c11\u4fdd\u75592\u5e74\u4ee5\u4e0a\uff0c\u540c\u65f6\u9700\u5728\u68c0\u6d4b\u524d\u54a8\u8be2\u548c\u77e5\u60c5\u540c\u610f\u4e2d\u660e\u786e\u544a\u77e5\u53d7\u68c0\u8005\u4fdd\u5b58\u7684\u65f6\u95f4\uff0c\u5728\u4fdd\u5b58\u671f\u95f4\u6309\u533b\u5e08\u53ca\u60a3\u8005\u7684\u9700\u6c42\u8fdb\u884c\u91ca\u653e\u6216\u91cd\u5206\u6790\u3002<\/div>\n
\u00a0<\/div>\n
3.3\u00a0\u6570\u636e\u5b58\u50a8<\/div>\n
\u6570\u636e\u6587\u4ef6\u53ef\u4ee5\u5728\u672c\u5730\u6216\u4e91\u7aef\u4fdd\u5b58\u3002\u6570\u636e\u7684\u4f20\u8f93\u548c\u5b58\u50a8\u5efa\u8bae\u4f7f\u7528\u6821\u9a8c\u548c\uff08checksum\uff09\u5bf9\u6587\u4ef6\u7684\u5b8c\u6574\u5ea6\u8fdb\u884c\u8ffd\u8e2a\uff0c\u4f8b\u5982MD5\u7b97\u6cd5\u3002\u63a8\u8350\u91c7\u7528\u5de5\u4e1a\u5316\u538b\u7f29\u8f6f\u4ef6\u538b\u7f29\u4fdd\u5b58\u539f\u59cb\u6570\u636e\uff0c\u5e76\u4fdd\u5b58MD5\u4fe1\u606f\uff0c\u5c3d\u91cf\u901a\u8fc7\u5de5\u4e1a\u6807\u51c6\u7684\u963f\u91cc\u4e91\u3001\u534e\u4e3a\u4e91\u7b49\u4e91\u7aef\u8fdb\u884c\u4ea4\u4ed8\u3002<\/div>\n
\u00a0<\/div>\n
4. \u6570\u636e\u89e3\u8bfb<\/div>\n
\u9057\u4f20\u5206\u6790\u7684\u8f93\u5165\u4e3a\u4fe1\u606f\u5206\u6790\u6ce8\u91ca\u6570\u636e\uff0c\u8f93\u51fa\u4e3a\u62a5\u544a\uff0c\u5efa\u8bae\u5bf9\u5c55\u793a\u5728\u62a5\u544a\u4e2d\u7684\u53d8\u5f02\u76f8\u5173\u6ce8\u91ca\u6570\u636e\u4f7f\u7528\u7edf\u4e00\u7684\u89c4\u5219\u3002\u8f85\u52a9\u4e34\u5e8a\u8bca\u65ad\u7684\u57fa\u56e0\u68c0\u6d4b\uff0c\u5176\u9057\u4f20\u5206\u6790\u73af\u8282\u6d89\u53ca\u53d8\u5f02\u521d\u7b5b\u3001\u8868\u578b\u5339\u914d\u548c\u53d8\u5f02\u81f4\u75c5\u6027\u5224\u8bfb\u7b493\u4e2a\u6b65\u9aa4\u3002\u56e0\u4e8c\u4ee3\u6d4b\u5e8f\u4ea7\u751f\u7684\u53d8\u5f02\u591a\uff0c\u9057\u4f20\u5206\u6790\u73af\u8282\u6d89\u53ca\u8f83\u591a\u7684\u4eba\u5de5\u5224\u65ad\uff0c\u56e0\u6b64\u5404\u5b9e\u9a8c\u5ba4\u9700\u6839\u636eACMGG\u6307\u5357\u7684\u539f\u5219\u7f16\u5199\u6570\u636e\u89e3\u8bfb\u7684SOP\uff0c\u8981\u6c42\u76f8\u5173\u4eba\u5458\u5728\u5145\u5206\u7684\u57f9\u8bad\u548c\u8003\u6838\u540e\u65b9\u53ef\u8fdb\u884c\u6570\u636e\u89e3\u8bfb\u548c\u62a5\u544a\u51fa\u5177\u3002<\/div>\n
\u00a0<\/div>\n
4.1 \u53d8\u5f02\u521d\u7b5b<\/div>\n
\u4e8c\u4ee3\u6d4b\u5e8f\u4f1a\u53d1\u73b0\u5927\u91cf\u7684\u53d8\u5f02\u3002\u8fd9\u4e9b\u53d8\u5f02\u4e2d\u7684\u5927\u90e8\u5206\u662f\u826f\u6027\u591a\u6001\u6216\u4e0e\u75be\u75c5\u65e0\u76f4\u63a5\u5173\u8054\u7684\u53d8\u5f02\uff0c\u53ef\u7ed3\u5408\u75be\u75c5\u7684\u53d1\u75c5\u7387\u4e0e\u5f85\u89e3\u8bfb\u53d8\u5f02\u5728\u6b63\u5e38\u5bf9\u7167\u4eba\u7fa4\u4e2d\u7684\u9891\u7387\u3001\u53d8\u5f02\u6240\u5f15\u8d77\u7684\u529f\u80fd\u6539\u53d8\u7b49\u53c2\u6570\u8fc7\u6ee4\u6389\u6ce8\u91ca\u6570\u636e\u4e2d\u7684\u7591\u4f3c\u826f\u6027\/\u826f\u6027\u53d8\u5f02\u3002<\/div>\n
\u00a0<\/div>\n
\u7f8e\u56fdACMGG\u5efa\u8bae\u4f7f\u7528\u6b63\u5e38\u4eba\u7fa4\u9891\u7387>\u5e38\u89c1\u7684\u9057\u4f20\u75c5\u53d1\u75c5\u7387\u5236\u5b9a\u9ed8\u8ba4\u7b5b\u9009\u9891\u7387\uff0c\u5982\u6b21\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\uff08minor allele frequency\uff0cMAF\uff09>1%\u3002\u81ea\u52a8\u5316\u7b5b\u9009\u6d41\u7a0b\u7684\u6761\u4ef6\u9700\u8fdb\u884c\u4fdd\u5b58\u3002\u4f46\u9700\u6ce8\u610f\u7531\u4e8e\u4e2a\u4f53\u504f\u5dee\u548c\u5916\u663e\u4e0d\u5168\u7b49\u56e0\u7d20\uff0c\u6709\u4e9b\u81f4\u75c5\u7a81\u53d8\u7684\u4eba\u7fa4\u9891\u7387\u8f83\u9ad8\uff0c\u751a\u81f3\u5728\u7279\u5b9a\u4eba\u7fa4\u4e2d\u9891\u7387\u8d85\u8fc75%\u3002\u9700\u901a\u8fc7\u6570\u636e\u5e93\u548c\u6587\u732e\u68c0\u7d22\u5982\u53c2\u8003ClinGen SVI\u9488\u5bf9BA1\u8bc1\u636e\u9879\u4f7f\u7528\u53d1\u5e03\u7684\u4f8b\u5916\u5217\u8868\uff08https:\/\/clinicalgenome.org\/site\/assets\/files\/3460\/ba1_exception_list_07_30_2018.pdf\uff09]\u8bbe\u7f6e\u9ad8\u9891\u8c41\u514d\u6570\u636e\u5e93\uff0c\u4ee5\u786e\u4fdd\u8fd9\u4e9b\u7a81\u53d8\u4e0d\u4f1a\u5728\u53d8\u5f02\u521d\u7b5b\u4e2d\u88ab\u5254\u9664\u3002<\/div>\n
\u00a0<\/div>\n
4.2 \u8868\u578b\u5339\u914d<\/div>\n
\u9488\u5bf9\u60a3\u8005\u7684\u57fa\u56e0\u68c0\u6d4b\u7684\u9996\u8981\u8bc9\u6c42\u662f\u627e\u5230\u5206\u5b50\u6c34\u5e73\u7684\u81f4\u75c5\u539f\u56e0\uff0c\u56e0\u6b64\u9700\u7ed3\u5408\u53d7\u68c0\u8005\u7684\u4e34\u5e8a\u8868\u578b\u5bf9\u6837\u54c1\u8fdb\u884c\u5206\u6790\u548c\u89e3\u8bfb\u3002\u5728\u8868\u578b\u5339\u914d\u73af\u8282\uff0c\u9700\u5c06\u60a3\u8005\u7684\u8868\u578b\u4e0e\u68c0\u6d4b\u5230\u7684\u53d8\u5f02\u57fa\u56e0\u6240\u81f4\u75be\u75c5\u7684\u8868\u578b\u8fdb\u884c\u6bd4\u5bf9\u5206\u6790\uff0c\u56e0\u6b64\u9700\u501f\u52a9\u6570\u636e\u5e93\u548c\u6587\u732e\u68c0\u7d22\u6765\u5b8c\u6210\u3002\u5efa\u8bae\u5404\u5b9e\u9a8c\u5ba4\u6784\u5efa\u81ea\u4e3b\u7684\u57fa\u56e0-\u75be\u75c5-\u75be\u75c5\u8868\u578b\u6570\u636e\u5e93\u4ee5\u63d0\u9ad8\u8868\u578b\u5339\u914d\u7684\u6548\u7387\uff0c\u5e76\u6807\u8bb0\u6570\u636e\u7684\u6765\u6e90\u548c\u6570\u636e\u5e93\u7248\u672c\uff0c\u4ee5\u4fbf\u4e8e\u8ffd\u6eaf\u548c\u7ef4\u62a4\u3002\u9700\u6ce8\u610f\u57fa\u56e0\u3001\u75be\u75c5\u548c\u75be\u75c5\u8868\u578b\u7684\u5173\u8054\u5e76\u4e0d\u662f\u56fa\u5b9a\u4e0d\u53d8\u7684\uff0c\u968f\u7740\u79d1\u7814\u548c\u4e34\u5e8a\u7684\u53d1\u5c55\u4e0e\u8fdb\u6b65\u4f1a\u4e0d\u65ad\u6269\u589e\u66f4\u65b0\uff0c\u56e0\u6b64\u5404\u5b9e\u9a8c\u5ba4\u9700\u6ce8\u610f\u8fdb\u884c\u6700\u65b0\u7814\u7a76\u8fdb\u5c55\uff0c\u4e0d\u65ad\u66f4\u65b0\u3001\u4f18\u5316\u548c\u77eb\u6b63\u81ea\u5df1\u7684\u5185\u90e8\u6570\u636e\u5e93\u3002<\/div>\n
\u00a0<\/div>\n
\u8868\u578b\u5339\u914d\u7531\u4e8e\u4eba\u5de5\u53c2\u4e0e\u5ea6\u9ad8\uff0c\u5df2\u6210\u4e3a\u6570\u636e\u89e3\u8bfb\u7684\u9650\u901f\u73af\u8282\uff0c\u53ef\u501f\u52a9\u81ea\u52a8\u5316\u7684\u8868\u578b\u5339\u914d\u8f6f\u4ef6\u6765\u63d0\u9ad8\u6548\u7387\u3002\u76ee\u524d\u6709\u591a\u79cd\u8f6f\u4ef6\u53ef\u6d41\u7a0b\u5316\u5b9e\u73b0\u8868\u578b\u5339\u914d\u548c\u5173\u8054\uff0c\u5e38\u7528\u7684\u8868\u578b\u5339\u914d\u8f6f\u4ef6\u5305\u62ecPhenolyzer\u3001Exomiser\u3001Xrare\u53ca\u5546\u4e1a\u8f6f\u4ef6TGex\u7b49\uff0c\u4e5f\u53ef\u4f7f\u7528\u81ea\u4e3b\u5f00\u53d1\u7684\u8868\u578b\u5339\u914d\u8f6f\u4ef6\u8fdb\u884c\u8f85\u52a9\u89e3\u8bfb\u3002\u8fd9\u4e9b\u8f6f\u4ef6\u80fd\u591f\u6839\u636e\u60a3\u8005\u7684\u8868\u578b\uff0c\u5c06\u68c0\u51fa\u7684\u7a81\u53d8\u6309\u76f8\u5173\u6027\u8fdb\u884c\u6392\u5e8f\uff0c\u4f5c\u4e3a\u89e3\u8bfb\u7ed3\u679c\u7684\u53c2\u8003\uff0c\u4f46\u5e76\u4e0d\u80fd\u5b8c\u5168\u66ff\u4ee3\u4eba\u5de5\u5f97\u51fa\u7ed3\u8bba\u3002\u5728\u8868\u578b\u5173\u8054\u5206\u6790\u73af\u8282\uff0c\u5efa\u8bae\u4e34\u5e8a\u4e0e\u68c0\u9a8c\u5b9e\u9a8c\u5ba4\u5efa\u7acb\u534f\u4f5c\u673a\u5236\uff0c\u4ee5\u4fbf\u9001\u68c0\u533b\u5e08\u80fd\u591f\u53c2\u4e0e\u5bf9\u5019\u9009\u53d8\u5f02\u4f4d\u70b9\u8868\u578b\u543b\u5408\u5ea6\u7684\u8bc4\u4f30\u3002\u540c\u65f6\u4e3a\u65b9\u4fbf\u4e34\u5e8a\u4e0e\u5b9e\u9a8c\u5ba4\u6c9f\u901a\uff0c\u5efa\u8bae\u4f7f\u7528HPO\uff08https:\/\/hpo.jax.org\/\uff09\u8bcd\u6761\u548cCHPO\uff08http:\/\/www.chinahpo.org\/\uff09\u8bcd\u6761\u5bf9\u60a3\u8005\u7684\u8868\u578b\u8fdb\u884c\u5904\u7406\u548c\u5b58\u50a8\uff0c\u7ed3\u6784\u6027\u6807\u51c6\u5316\u7684\u8868\u578b-\u57fa\u56e0\u578b\u6837\u54c1\u5e93\u7684\u5efa\u7acb\u4e5f\u6709\u5229\u4e8e\u5386\u53f2\u6570\u636e\u7684\u5229\u7528\u548c\u6316\u6398\u3002<\/div>\n
\u00a0<\/div>\n
4.3\u00a0\u4f4d\u70b9\u81f4\u75c5\u6027\u89e3\u8bfb<\/div>\n
\u6839\u636e2018\u5e74\u53d1\u8868\u7684\u300a\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u89c4\u8303\u4e0e\u57fa\u56e0\u68c0\u6d4b\u884c\u4e1a\u5171\u8bc6\u63a2\u8ba8\u300b\u4e2d\u7684\u884c\u4e1a\u5171\u8bc6\uff0c\u4f4d\u70b9\u81f4\u75c5\u6027\u7684\u89e3\u8bfb\u9700\u8981\u53c2\u8003ACMGG 2015\u5e74\u53d1\u8868\u7684\u4f4d\u70b9\u81f4\u75c5\u6027\u89e3\u8bfb\u6307\u5357\u3002\u5404\u5b9e\u9a8c\u5ba4\u9700\u5bf9\u4f4d\u70b9\u81f4\u75c5\u6027\u7684\u89e3\u8bfb\u7f16\u5199SOP\uff0c\u6240\u6709\u4eba\u5458\u5747\u9700\u4e25\u683c\u6267\u884cSOP\u5bf9\u53d8\u5f02\u7684\u81f4\u75c5\u6027\u8fdb\u884c\u89e3\u8bfb\u3002\u987b\u6ce8\u610f\u53d8\u5f02\u4f4d\u70b9\u81f4\u75c5\u6027\u89e3\u8bfb\u7684\u89c4\u5219\u5c06\u968f\u884c\u4e1a\u548c\u6280\u672f\u7684\u8fdb\u6b65\u4e0d\u65ad\u66f4\u65b0\u548c\u5b8c\u5584\uff0c\u56e0\u6b64\u5b9e\u9a8c\u5ba4\u9700\u8ffd\u8e2a\u6700\u65b0\u7684\u6307\u5357\u548c\u884c\u4e1a\u5171\u8bc6\uff0c\u9075\u5faaClinGen\u9488\u5bf9\u4e0d\u540c\u8bc1\u636e\u7684\u7ec6\u5316\u5efa\u8bae\u4ee5\u53ca\u7279\u5b9a\u7c7b\u578b\u57fa\u56e0\u548c\u75be\u75c5\u7684\u5efa\u8bae\uff0c\u4e0d\u65ad\u66f4\u65b0\u548c\u4f18\u5316\u5b9e\u9a8c\u5ba4\u7684\u89e3\u8bfbSOP\u5e76\u6807\u6ce8\u7248\u672c\uff0c\u4ee5\u4fbf\u4e8e\u56de\u6eaf\u7ba1\u7406\u3002\u5b9e\u9a8c\u5ba4\u6570\u636e\u7684\u89e3\u8bfb\u4eba\u5458\u5e94\u7ec4\u7ec7\u5e74\u5ea6\u57f9\u8bad\uff0c\u7edf\u4e00\u89e3\u8bfb\u89c4\u5219\u3002\u00a0<\/div>\n
\u00a0<\/div>\n
\u56fd\u5bb6\u4e34\u68c0\u4e2d\u5fc3\u5b9a\u671f\u5bf9\u4e8c\u4ee3\u6d4b\u5e8f\u7ed3\u679c\u7684\u81f4\u75c5\u6027\u89e3\u8bfb\u8fdb\u884c\u57f9\u8bad\uff0c\u5404\u5b9e\u9a8c\u5ba4\u5747\u5e94\u5b89\u6392\u4eba\u5458\u53c2\u52a0\u3002\u9f13\u52b1\u5b9e\u9a8c\u5ba4\u95f4\u5206\u4eabSOP\u53ca\u4f4d\u70b9\u7b5b\u9009\u7684\u903b\u8f91\uff0c\u4ee5\u4fbf\u76f8\u4e92\u501f\u9274\uff0c\u5f62\u6210\u884c\u4e1a\u6807\u51c6\u3002\u00a0<\/div>\n
\u5224\u65ad\u4f4d\u70b9\u81f4\u75c5\u6027\u7684\u8bc1\u636e\u6709\u4e00\u4e9b\u53ef\u4ee5\u8fdb\u884c\u81ea\u52a8\u5316\u5206\u6790\uff08\u5982\u4eba\u7fa4\u9891\u7387\u3001\u8f6f\u4ef6\u9884\u6d4b\u7b49\uff09\uff0c\u800c\u6709\u4e9b\u53ea\u80fd\u901a\u8fc7\u4eba\u5de5\u9605\u8bfb\u6587\u732e\u6216\u9a8c\u8bc1\u5b9e\u9a8c\u83b7\u53d6\uff0c\u8f85\u52a9\u89e3\u8bfb\u8f6f\u4ef6\u53ef\u81ea\u52a8\u5728ACMGG\u6307\u5357\u6846\u67b6\u4e0b\u5bf9\u53d8\u5f02\u8fdb\u884c\u81f4\u75c5\u6027\u5224\u65ad\uff08\u5982InterVar\uff09\uff0c\u4f46\u5747\u9700\u8981\u4eba\u5de5\u8fdb\u884c\u6821\u6b63\uff0c\u624d\u53ef\u83b7\u53d6\u8db3\u591f\u7684\u8bc1\u636e\u9879\uff0c\u5f97\u5230\u51c6\u786e\u7684\u7ed3\u8bba\u3002\u5b9e\u9a8c\u5ba4\u4e5f\u53ef\u4ee5\u81ea\u5efa\u6d41\u7a0b\uff0c\u5bf9ACMGG\u89e3\u8bfb\u6307\u5357\u7684\u90e8\u5206\u8bc1\u636e\u9879\u8fdb\u884c\u81ea\u52a8\u5316\u63d0\u53d6\uff0c\u5efa\u8bae\u7528\u6570\u636e\u5e93\u81f4\u75c5\/\u826f\u6027\u4f4d\u70b9\u8fdb\u884c\u6821\u9a8c\uff0c\u786e\u8ba4\u81ea\u52a8\u5316\u8bc1\u636e\u9879\u7684\u53ef\u9760\u6027\uff0c\u4e0d\u65ad\u4f18\u5316\u6d41\u7a0b\u3002\u5728\u6570\u636e\u89e3\u8bfb\u7684\u8fc7\u7a0b\u4e2d\uff0c\u4eba\u5de5\u53c2\u4e0e\u73af\u8282\u7684\u6587\u732e\u67e5\u8be2\u82e5\u63d0\u4f9b\u4e86\u81f4\u75c5\u8bc1\u636e\uff0c\u9700\u5c06\u6240\u5f15\u7528\u7684\u6587\u732e\u8bc1\u636e\u9644\u5728\u6587\u732e\u5217\u8868\u4e2d\u5e76\u4f5c\u6e05\u695a\u6807\u8bb0\u3002\u5efa\u8bae\u5728\u62a5\u544a\u4e2d\u5217\u51fa\u6240\u6709\u7684\u7528\u4e8e\u81f4\u75c5\u6027\u5b9a\u7ea7\u7684\u8be6\u7ec6\u8bc1\u636e\u63cf\u8ff0\u53ca\u51c6\u786e\u7684\u6570\u636e\u6765\u6e90\u3002\u00a0<\/div>\n
\u00a0<\/div>\n
\u5e94\u5efa\u7acb\u7ed3\u6784\u5316\u7684\u6570\u636e\u5e93\u5b58\u50a8\u548c\u7ef4\u62a4\u5b9e\u9a8c\u5ba4\u5df2\u7ecf\u89e3\u8bfb\u8fc7\u7684\u53d8\u5f02\u4f4d\u70b9\uff0c\u540c\u65f6\u9700\u6ce8\u610f\u968f\u7740\u7814\u7a76\u548c\u6587\u732e\u7684\u66f4\u65b0\u53ca\u5bb6\u7cfb\u8d44\u6599\u7684\u8865\u5145\uff0c\u53d8\u5f02\u7684\u81f4\u75c5\u6027\u5224\u65ad\u53ef\u80fd\u4f1a\u53d1\u751f\u6539\u53d8\u3002\u636e\u7edf\u8ba1\uff0cOMIM\u6570\u636e\u5e93\u5e73\u5747\u6bcf\u4e2a\u6708\u66f4\u65b040 ~ 50\u4e2a\u57fa\u56e0\u6761\u76ee\uff0c\u53ef\u6839\u636e\u5b9e\u9a8c\u5ba4\u6761\u4ef6\uff0c\u9009\u62e9\u6bcf\u5b63\u5ea6\u5230\u534a\u5e74\u66f4\u65b0\u6570\u636e\u5e93\uff0c\u5bf9\u9634\u6027\u6837\u54c1\u8fdb\u884c\u91cd\u5206\u6790\uff0c\u4ee5\u63d0\u9ad8\u8bca\u65ad\u7387\u3002\u5efa\u8bae\u4e0d\u540c\u5b9e\u9a8c\u5ba4\u81f4\u75c5\u6027\u53d8\u5f02\u7ed3\u679c\u548c\u8bc1\u636e\u9879\u7684\u4e92\u4eab\u4ee5\u5145\u5206\u6316\u6398\u53d8\u5f02\u81f4\u75c5\u6027\u5206\u6790\u7684\u8bc1\u636e\uff0c\u5bf9\u89e3\u8bfb\u6761\u6b3e\u6216\u7ed3\u8bba\u6709\u4e0d\u540c\u610f\u89c1\u65f6\uff0c\u9f13\u52b1\u901a\u8fc7\u8ba8\u8bba\u53ca\u5b9a\u671f\u8fdb\u884c\u4e1a\u5185\u7684\u57f9\u8bad\u7b49\u5f62\u5f0f\u4e0d\u65ad\u5b8c\u5584\u3002\u3002<\/div>\n
\u00a0<\/div>\n
\u00a0<\/div>\n
4.4\u00a0\u5bb6\u7cfb\u9a8c\u8bc1<\/div>\n
\u5bf9\u4e8e\u60a3\u8005\u7684\u9ad8\u901a\u91cf\u68c0\u6d4b\u7ed3\u679c\uff0c\u9700\u8981\u901a\u8fc7\u5bb6\u7cfb\u4f20\u9012\u5206\u6790\u6765\u5224\u65ad\u7a81\u53d8\u7684\u6765\u6e90\uff0c\u4ece\u800c\u8fdb\u4e00\u6b65\u786e\u5b9a\u53d8\u5f02\u7684\u81f4\u75c5\u6027\u3002\u82e5\u7236\u6bcd\u5b50\/\u5973\u4e09\u4eba\u540c\u65f6\u8fdb\u884c\u4e86\u6838\u5fc3\u5bb6\u7cfb\uff08Trio\uff09\u68c0\u6d4b\uff0c\u4e14\u53d8\u5f02\u4f4d\u70b9\u7684\u6d4b\u5e8f\u8d28\u91cf\u548c\u8986\u76d6\u5ea6\u5747\u8fbe\u6807\uff0c\u5e76\u786e\u8ba4\u4e86\u4eb2\u5b50\u5173\u7cfb\u540e\uff0c\u5219\u4e0d\u9700\u8981\u518d\u8fdb\u884cSanger\u6d4b\u5e8f\u5206\u6790\uff0c\u53ea\u9700\u76f4\u63a5\u8fdb\u884c\u5bb6\u7cfb\u5206\u6790\u5373\u53ef\u3002\u3002<\/div>\n
\u00a0<\/div>\n
4.5\u00a0\u53cd\u9988<\/div>\n
\u6570\u636e\u5206\u6790\u89e3\u8bfb\u5b8c\u6210\u540e\uff0c\u5728\u6b63\u5f0f\u51fa\u5177\u62a5\u544a\u4e4b\u524d\uff0c\u9700\u8981\u4e0e\u4e34\u5e8a\u533b\u5e08\uff08\u9001\u68c0\u533b\u5e08\uff09\u518d\u6b21\u8fdb\u884c\u6c9f\u901a\u3002\u4e3b\u8981\u5185\u5bb9\u53ef\u9488\u5bf9\u89e3\u8bfb\u8fc7\u7a0b\u4e2d\u4e34\u5e8a\u8868\u578b\u7684HPO\/CHPO\u4f7f\u7528\u662f\u5426\u51c6\u786e\uff0c\u662f\u5426\u6709\u9057\u6f0f\u7684\u8868\u578b\u9700\u8981\u8865\u5145\uff0c\u89e3\u8bfb\u4e0e\u4e34\u5e8a\u5bf9\u8bcd\u6761\u7684\u7406\u89e3\u53ca\u4f7f\u7528\u662f\u5426\u4e00\u81f4\uff0c\u89e3\u8bfb\u7ed3\u679c\u662f\u5426\u80fd\u591f\u5145\u5206\u89e3\u91ca\u53d7\u68c0\u8005\u7684\u75c5\u56e0\uff0c\u5c24\u5176\u662f\u5b58\u5728\u7b49\u4f4d\u57fa\u56e0\u5f02\u8d28\u6027\u7684\u60c5\u51b5\u4e0b\uff0c\u5fae\u5c0f\u7684\u8868\u578b\u5dee\u5f02\u53ef\u4ee5\u8d77\u5230\u9274\u522b\u8bca\u65ad\u7684\u4f5c\u7528\uff0c\u662f\u5426\u6709\u53ef\u80fd\u5bf9\u67d0\u4e9b\u91cd\u70b9\u5173\u6ce8\u57fa\u56e0\u7684\u89e3\u8bfb\u6709\u758f\u6f0f\u3002\u6b64\u5916\uff0c\u82e5\u6d89\u53ca\u610f\u5916\u53d1\u73b0\u5982\u4f55\u5411\u53d7\u68c0\u8005\u62ab\u9732\u3001\u662f\u5426\u5728\u62a5\u544a\u4e2d\u5448\u73b0\u7b49\u95ee\u9898\uff0c\u90fd\u9700\u8981\u4e0e\u9001\u68c0\u533b\u5e08\u8fdb\u884c\u5145\u5206\u7684\u6c9f\u901a\u3002<\/div>\n
\u00a0<\/div>\n
5. \u603b\u7ed3<\/div>\n
\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u68c0\u6d4b\u57fa\u56e0\u53d8\u5f02\u7684\u80fd\u529b\u8f83\u5f3a\uff0c\u53ef\u68c0\u6d4b\u591a\u79cd\u53d8\u5f02\u7c7b\u578b\uff0c\u975e\u5e38\u9002\u7528\u4e8e\u9057\u4f20\u6027\u75be\u75c5\u7684\u5206\u5b50\u8bca\u65ad\uff0c\u5c24\u5176\u4f7f\u8868\u578b\u4e0d\u660e\u786e\u3001\u4e0d\u80fd\u83b7\u5f97\u660e\u786e\u7684\u4e34\u5e8a\u8bca\u65ad\u7684\u9057\u4f20\u6027\u75be\u75c5\u80fd\u591f\u4ece\u68c0\u6d4b\u83b7\u5f97\u542f\u53d1\u3002<\/div>\n
\u00a0<\/div>\n
\u4e0e\u4f20\u7edf\u7684\u9488\u5bf9\u6027\u57fa\u56e0\u68c0\u6d4b\u65b9\u6cd5\u76f8\u6bd4\uff0c\u4e8c\u4ee3\u6d4b\u5e8f\u7684\u6570\u636e\u5206\u6790\u66f4\u4e3a\u590d\u6742\u3002\u672c\u6587\u5bf9\u4e8c\u4ee3\u6d4b\u5e8f\u5e94\u7528\u4e8e\u9057\u4f20\u75c5\u5206\u5b50\u8bca\u65ad\u7684\u5171\u8bc6\u8fdb\u884c\u4e86\u63a2\u8ba8\uff0c\u5bf9\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u3001\u6570\u636e\u5b58\u50a8\u548c\u6570\u636e\u89e3\u8bfb\u63d0\u51fa\u4e86\u5efa\u8bae\u3002<\/div>\n
\u00a0<\/div>\n
\u968f\u7740\u6280\u672f\u7684\u53d1\u5c55\uff0c\u65b0\u7684\u751f\u7269\u4fe1\u606f\u5b66\u7b97\u6cd5\u548c\u6d41\u7a0b\u7684\u63a8\u51fa\u5c06\u4f7f\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u7684\u5e94\u7528\u8303\u56f4\u4e0d\u65ad\u6269\u5927\uff0c\u51c6\u786e\u6027\u4e0d\u65ad\u63d0\u9ad8\uff0c\u800c\u53d8\u5f02\u81f4\u75c5\u6027\u89e3\u8bfb\u7684\u6307\u5357\u4e5f\u4f1a\u4e0d\u65ad\u66f4\u65b0\uff0c\u9700\u8981\u9f13\u52b1\u540c\u4e1a\u673a\u6784\u4e4b\u95f4\u52a0\u5f3a\u4ea4\u6d41\uff0c\u9010\u6b65\u5b9e\u73b0\u6570\u636e\u3001\u53d8\u5f02\u5206\u7c7b\u7ed3\u679c\u53ca\u4f9d\u636e\u7684\u79ef\u7d2f\u548c\u5206\u4eab\uff0c\u6301\u7eed\u66f4\u65b0\u884c\u4e1a\u5171\u8bc6\u548c\u6307\u5357\uff0c\u4fc3\u8fdb\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u5728\u9057\u4f20\u75c5\u8bca\u65ad\u9886\u57df\u7684\u5e94\u7528\u548c\u53d1\u5c55\u3002<\/div>\n
\uff08\u66f4\u8be6\u7ec6\u5185\u5bb9\u8bf7\u53c2\u9605\u300a\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\u300b2020\u5e743\u6708\u7b2c37\u5377\u7b2c3\u671f\u3002\uff09<\/div>\n
\u00a0<\/div>\n
\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
1\uff09\u5b59\u96bd\uff0c\u9ec4\u9890\uff0c\u738b\u5c0f\u51ac\u7b49\uff0c\u300a\u9057\u4f20\u75c5\u4e8c\u4ee3\u6d4b\u5e8f\u4e34\u5e8a\u68c0\u6d4b\u5168\u6d41\u7a0b\u89c4\u8303\u5316\u5171\u8bc6\u63a2\u8ba8\uff083\uff09\u2014\u2014\u6570\u636e\u5206\u6790\u6d41\u7a0b\u300b\uff0c\u4e2d\u534e\u533b\u5b66\u9057\u4f20\u5b66\u6742\u5fd7\uff0c2020\u5e743\u6708\u7b2c37\u5377\u7b2c3\u671f<\/div>\n
\u58f0\u660e\uff1a\u4ee5\u4e0a\u6587\u7ae0\uff0c\u4ec5\u4f9b\u7814\u7a76\u53c2\u8003\uff0c\u4e0d\u4f5c\u4e3a\u6295\u878d\u8d44\u53ca\u533b\u7597\u7b49\u51b3\u7b56\u4f9d\u636e\uff1b\u7f16\u8f91\u540e\u7684\u6587\u7ae0\u77e5\u8bc6\u7248\u6743\u5c5e\u4e8e\u57fa\u56e0\u6167\uff0c\u516c\u4f17\u53f7\u4ee5\u53ca\u673a\u6784\u8f6c\u8f7d\u8bf7\u540e\u53f0\u7559\u8a00\u6216\u8054\u7cfb\u5fae\u4fe1 jiyinhui_1\u3002<\/div>\n
\u00a0<\/div>\n
\u62d3\u5c55\u9605\u8bfb<\/div>\n
\u25b2\u00a0\u9996\u4e2a\u4e34\u5e8a\u9057\u4f20\u75c5NGS\u57fa\u56e0\u68c0\u6d4b\u5168\u6d41\u7a0b\u5171\u8bc6\u53d1\u5e03<\/a><\/div>\n
\u25b2\u00a0\u300a2020\u57fa\u56e0\u884c\u4e1a\u62a5\u544a\u300b\u589e\u8ba2\u7535\u5b50\u7248\u53d1\u5e03<\/a><\/div>\n
\u25b2\u00a0\u57fa\u56e0\u6167\u53c2\u4e0e\u56fd\u53d1\u6539\u300a\u6218\u7565\u6027\u65b0\u5174\u4ea7\u4e1a\u53d1\u5c55\u5c55\u671b\u300b<\/a><\/div>\n
\u00a02020\u57fa\u56e0\u884c\u4e1a\u62a5\u544a\u00a0<\/div>\n
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