\n![\"RmFicvQBAkgDEsUia5jbfibMgeRrNibH1ns0NaxVdCMqRl9Bcn0geKXKbn4CByInShB9u6lDPnKmK1nhKxqqiaRaUzQ\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgDEsUia5jbfibMgeRrNibH1ns0NaxVdCMqRl9Bcn0geKXKbn4CByInShB9u6lDPnKmK1nhKxqqiaRaUzQ.gif\")
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\u5173\u952e\u5b57\uff1a\u7f8e\u56fd\u75c5\u7406\u5b66\u4f1a \u7f8e\u56fd\u5206\u5b50\u75c5\u7406\u5b66\u4f1a<\/div>\n
\u9ad8\u901a\u91cf\u6d4b\u5e8f \u751f\u7269\u4fe1\u606f<\/div>\n
\u7528\u65f6\uff1a\u7ea63\u5206\u949f<\/div>\n
<\/div>\n
<\/div>\n
\u751f\u7269\u4fe1\u606f\u5206\u6790\u662f\u5bf9\u6d4b\u5e8f\u5f97\u5230\u7684\u539f\u59cb\u5e8f\u5217\u8fdb\u884c\u6570\u636e\u5206\u6790\u548c\u5904\u7406\u7684\u8fc7\u7a0b\uff0c\u662f\u4e34\u5e8a\u57fa\u56e0\u8bca\u65ad\u4e2d\u9057\u4f20\u5206\u6790\u548c\u4e34\u5e8a\u51b3\u7b56\u7684\u524d\u63d0\u6b65\u9aa4\u3002\u76ee\u524d\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u5206\u6790\u7f3a\u4e4f\u89c4\u8303\u548c\u6807\u51c6\uff0c\u4e3a\u4e86\u89e3\u51b3\u8fd9\u4e2a\u95ee\u9898\uff0c\u7f8e\u56fd\u5206\u5b50\u75c5\u7406\u5b66\u4f1a\uff08AMP\uff09\u4e0e\u7f8e\u56fd\u75c5\u7406\u5b66\u4f1a\uff08CAP\uff09\u7ec4\u7ec7\u76f8\u5173\u65b9\u5236\u5b9a\u5e76\u53d1\u5e03\u4e86\u300aNGS\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u9a8c\u8bc1\u6807\u51c6\u548c\u6307\u5357\u300b\uff0c\u57fa\u56e0\u6167\u6574\u7406\u76f8\u5173\u5185\u5bb9\u5982\u4e0b\uff0c\u4ec5\u4f9b\u53c2\u8003\uff08\u5728\u516c\u4f17\u53f7\u4e3b\u9875\u56de\u590d\u201cAMP\u201d\u5373\u53ef\u67e5\u770b\u6307\u5357\u5168\u6587\uff09\u3002<\/div>\n
<\/div>\n
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\n\n
\n![\"RmFicvQBAkgB1cvqDHibG87Mpx4MCqqSiaf12gf1rduFkrYh1qGhrDhSLBvaEm638NuxSnPQpuvABfksKLyGaKc9A\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB1cvqDHibG87Mpx4MCqqSiaf12gf1rduFkrYh1qGhrDhSLBvaEm638NuxSnPQpuvABfksKLyGaKc9A.png\")
<\/figure><\/div>\n\n
<\/figure><\/div>\n\n\u56fe1\uff0c\u6587\u7ae0\u53d1\u8868\u4e8e\u300aThe Journal of Molecular Diagnostics\u300b\uff08j.jmoldx.2017.11.003\uff09<\/div>\n
\u5212\u91cd\u70b9<\/div>\n
1\u00a0\u00a0\u00a0\u786e\u5b9a\u57fa\u56e0\u6d4b\u5e8f\u7684\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u5728\u4e34\u5e8a\u7684\u89c4\u8303<\/div>\n
2\u00a0\u00a0\u00a0\u660e\u786e\u751f\u7269\u4fe1\u606f\u7684\u57fa\u672c\u5b9a\u4e49\u3001\u6d41\u7a0b\u548c\u8be6\u7ec6\u6b65\u9aa4<\/div>\n
3\u00a0\u00a0 \u516c\u5f00\u4e86\u67e5\u9605PubMed\u5ba1\u6838\u6b64\u89c4\u8303\u548c\u5171\u8bc6\u7684\u7b56\u7565<\/div>\n
\u00a0<\/div>\n
1\u3001\u6307\u5357\u6db5\u76d6\u8303\u56f4<\/div>\n
\u300a\u4e34\u5e8aNGS\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u9a8c\u8bc1\u6807\u51c6\u548c\u6307\u5357\u300b\u4e3b\u8981\u5185\u5bb9\u5305\u62ec\u4e34\u5e8aNGS\u751f\u7269\u4fe1\u606f\u5b66\u6d41\u7a0b\u9a8c\u8bc1\u768417\u6761\u5171\u8bc6\u5efa\u8bae\u3002\u6db5\u76d6\u4e86\u5b9e\u9a8c\u5ba4NGS\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u4ece\u8bbe\u8ba1\u3001\u5f00\u53d1\u5230\u8fd0\u8425\u7684\u591a\u6761\u4f7f\u7528\u5efa\u8bae\uff0c\u5f3a\u8c03\u7ecf\u8fc7\u5408\u683c\u57f9\u8bad\u7684\u5206\u5b50\u4e13\u4e1a\u4eba\u5458\u662f\u786e\u4fddNGS\u68c0\u6d4b\u8d28\u91cf\u7684\u5173\u952e\u56e0\u7d20\u3002<\/div>\n
\u00a0<\/div>\n
2\u3001\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u548c\u6a21\u5757<\/div>\n
\u6587\u7ae0\u63d0\u5230\uff0cNGS\u751f\u6210\u6d77\u91cf\u57fa\u56e0\u6570\u636e\u540e\uff0c\u751f\u7269\u4fe1\u606f\u5b66\u57fa\u4e8e\u5206\u5b50\u751f\u7269\u5b66\u7684\u6982\u5ff5\uff0c\u901a\u8fc7\u8ba1\u7b97\uff08\u5e94\u7528\u6570\u5b66\uff0c\u8ba1\u7b97\u673a\u79d1\u5b66\u548c\u7edf\u8ba1\u5b66\u7b49\uff09\u7684\u65b9\u6cd5\u548c\u6a21\u578b\u6765\u5206\u6790\u548c\u5904\u7406\uff0c\u5f97\u5230\u6709\u6548\u4fe1\u606f\u3002\u6309\u7167\u4e00\u5b9a\u7684\u903b\u8f91\u548c\u987a\u5e8f\u6765\u5904\u7406NGS\u6570\u636e\u7684\u6d41\u7a0b\u7edf\u79f0\u4e3aNGS\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u3002\u5305\u62ec\uff1a<\/div>\n
\u8f6f\u4ef6\u548c\u5de5\u5177\u96c6\u5408<\/div>\n
\u6570\u636e\u5e93<\/div>\n
\u64cd\u4f5c\u73af\u5883\uff08\u786c\u4ef6\u548c\u8f6f\u4ef6\uff09<\/div>\n
\u751f\u7269\u4fe1\u606f\u5b66\u6d41\u7a0b\u7684\u7279\u70b9\u662f\u81ea\u52a8\u5316\uff0c\u9700\u8981\u8d28\u91cf\u63a7\u5236\uff08QC\uff09\u4ee5\u786e\u4fdd\u751f\u6210\u7684\u6570\u636e\u7a33\u5b9a\uff0c\u51c6\u786e\uff0c\u53ef\u91cd\u590d\u548c\u53ef\u8ffd\u6eaf\u3002\u4e0e\u5176\u4ed6\u6240\u6709\u4e34\u5e8a\u4f7f\u7528\u7684\u5176\u4ed6\u786c\u4ef6\u548c\u8f6f\u4ef6\u4e00\u6837\uff0c\u4e34\u5e8aNGS\u6d41\u7a0b\u7684\u6bcf\u4e00\u6b65\u90fd\u9700\u8981\u8fdb\u884c\u8d28\u91cf\u63a7\u5236\uff0c\u8fd9\u4e0d\u4ec5\u5bf9\u4e8e\u75c5\u4eba\u7684\u5065\u5eb7\u5f88\u5173\u952e\uff0c\u800c\u4e14\u5bf9\u4e8e\u6545\u969c\u6392\u9664\u548c\u7b26\u5408\u76d1\u7ba1\u8981\u6c42\u4e5f\u662f\u81f3\u5173\u91cd\u8981\u3002\u4e00\u4e2a\u5178\u578b\u7684\u751f\u7269\u4fe1\u606fNGS\u5206\u6790\u6d41\u7a0b\u5982\u56fe2\u6240\u793a\uff1a<\/div>\n\n
\n![\"RmFicvQBAkgB1cvqDHibG87Mpx4MCqqSiafNtbLBibefVy8ejT5OvQFhqVrrMjF7enHXVvLGUo1eu3iaJ7pcJcsurwQ\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB1cvqDHibG87Mpx4MCqqSiafNtbLBibefVy8ejT5OvQFhqVrrMjF7enHXVvLGUo1eu3iaJ7pcJcsurwQ.jpeg\")
<\/figure><\/div>\n\n
<\/figure><\/div>\n\n\u56fe2\uff0c\u4e00\u4e2a\u5178\u578b\u7684\u751f\u7269\u4fe1\u606f\u5206\u6790\u6d41\u7a0b\uff0c\u56fe\u7247\u6765\u81ea\u4e8e\u300aThe Journal of Molecular Diagnostics\u300b<\/div>\n
3\u3001\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u7684\u57fa\u672c\u6b65\u9aa4<\/div>\n
\u7b80\u8981\u5730\u8bf4\uff0c\u4e00\u5957\u5b8c\u6574\u7684\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u5305\u542b\u7684\u57fa\u672c\u6b65\u9aa4\u5982\u4e0b\uff1a<\/div>\n
\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u7684\u57fa\u672c\u6b65\u9aa4<\/div>\n
1. \u6d4b\u5e8f\u5e8f\u5217\u751f\u6210\uff08Sequence generation\uff09<\/div>\n
\u6b65\u9aa4\u5305\u542b\u6d4b\u5e8f\u4fe1\u53f7\u5904\u7406\uff08signal processing\uff09 \u548c\u78b1\u57fa\u5e8f\u5217\u8f6c\u6362\uff08\u00a0base calling\uff09\uff0c\u4e3b\u8981\u662f\u57fa\u4e8e\u6d4b\u5e8f\u7684\u5149\u5b66\u6216\u5176\u4ed6\u4fe1\u53f7\u7b49\uff0c\u751f\u6210\u542b\u6709\u78b1\u57fa\u5e8f\u5217\uff08\u4e3b\u8981\u662fA\u3001C\u3001G\u3001T\u56db\u79cd\u78b1\u57fa\uff09\u548c\u6bcf\u4e2a\u78b1\u57fa\u5bf9\u5e94\u7684\u8d28\u91cf\uff08\u5373\u78b1\u57fa\u8bfb\u53d6\u7684\u53ef\u4fe1\u5ea6\uff09<\/div>\n
\u6b65\u9aa41\u57fa\u4e8e\u6d4b\u5e8f\u539f\u59cb\u4fe1\u53f7\uff0c\u5f97\u5230\u539f\u59cb\u78b1\u57fa\u5e8f\u5217\uff08\u4e00\u822c\u7528ACGT\u7b49\u6838\u82f7\u9178\u7b80\u79f0\u6765\u8868\u793a\uff09<\/div>\n
\u00a0<\/div>\n
2. \u57fa\u56e0\u5e8f\u5217\u6bd4\u5bf9\uff08Sequence alignment\uff09<\/div>\n
\u5e8f\u5217\u6bd4\u5bf9\u662f\u628a\u6837\u672c\u6d4b\u5e8f\u5f97\u5230\u7684DNA\u5e8f\u5217\u4e0e\u53c2\u8003\u57fa\u56e0\u7ec4\u6bd4\u5bf9\uff0c\u4ece\u800c\u53d1\u73b0\u6837\u672c\u7684\u5e8f\u5217\u7a81\u53d8\u548c\u5dee\u5f02\u3002\u8fd9\u4e2a\u8fc7\u7a0b\u8ba1\u7b97\u5bc6\u96c6\uff0c\u4e3a\u6bcf\u4e2a\u77ed\u5e8f\u5217\u8bfb\u53d6\u5206\u914d\u4e00\u4e2aPhred\u91cf\u8868\u6620\u5c04\u8d28\u91cf\u5206\u6570\uff08\u8868\u660e\u6bd4\u5bf9\u8fc7\u7a0b\u7684\u53ef\u4fe1\u5ea6\uff09\u4ee5\u53ca\u8bfb\u53d6\u5728\u53c2\u8003\u57fa\u56e0\u7ec4\u4e2d\u7684\u7269\u7406\u4f4d\u7f6e\uff08\u8ba1\u7b97\u6df1\u5ea6\u548c\u8986\u76d6\u5ea6\uff09\u3002\u5e8f\u5217\u6bd4\u5bf9\u7ed3\u679c\u901a\u5e38\u4ee5BAM\u6587\u4ef6\u683c\u5f0f\u5b58\u50a8\uff0c\u662f\u5e8f\u5217\u6bd4\u5bf9\u7684SAM\u683c\u5f0f\u7684\u4e8c\u8fdb\u5236\u7248\u672c\u3002\u6587\u4e2d\u63d0\u5230\u538b\u7f29\u683c\u5f0fCRAM\u548c\u5176\u52a0\u5bc6\u538b\u7f29\u683c\u5f0fSECRAM\uff0c\u53ef\u4ee5\u6709\u6548\u8282\u7701\u7a7a\u95f4\uff08BAM\u6587\u4ef6\u901a\u5e38\u6bd4\u8f83\u5927\uff09\uff1aCRAM\u683c\u5f0f\u89c4\u8303\uff083.0\u7248\u672c\uff09\uff0chttp:\/\/samtools.github.io\/hts-specs\/CRAMv3.pdf<\/div>\n
\u6b65\u9aa42\u57fa\u4e8e\u539f\u59cb\u78b1\u57fa\u5e8f\u5217\uff0c\u5f97\u5230\u6bd4\u5bf9\u53c2\u8003\u57fa\u56e0\u7ec4\u7684\u7ed3\u679c\u6587\u4ef6\uff0c\u7528\u4e8e\u540e\u7eed\u5206\u6790\u3002<\/div>\n
\u00a0<\/div>\n
3. \u57fa\u56e0\u53d8\u5f02\u5206\u6790\uff08Variant calling\uff09<\/div>\n
\u57fa\u56e0\u53d8\u5f02\u5206\u6790\u662f\u5728\u57fa\u56e0\u5e8f\u5217\u6bd4\u5bf9\u540e\uff0c\u901a\u8fc7\u5206\u5b50\u751f\u7269\u5b66\u7684\u57fa\u7840\u77e5\u8bc6\uff0c\u6765\u5224\u65ad\u548c\u7b5b\u9009\u6837\u672c\u5e8f\u5217\u548c\u53c2\u8003\u57fa\u56e0\u7ec4\u7684\u5e8f\u5217\u5dee\u5f02\uff0c\u54ea\u4e9b\u662f\u81f4\u75c5\u7a81\u53d8\uff0c\u54ea\u4e9b\u662f\u6b63\u5e38\u7684\u591a\u6001\u6027\uff08\u7b80\u5355\u5730\u7406\u89e3\u662f\u65e0\u5bb3\u7684\uff09\u3002<\/div>\n
\u8fd9\u4e2a\u6b65\u9aa4\u7684\u8f93\u5165\u662fBAM\u6216\u5176\u4ed6\u7c7b\u4f3c\u683c\u5f0f\u6587\u4ef6\uff0c\u57fa\u4e8e\u76ee\u524d\u79d1\u5b66\u754c\u8ba4\u5b9a\u7684\u5e8f\u5217\u53d8\u5f02\u7684\u7c7b\u578b\u6765\u8fdb\u884c\u5224\u65ad\u548c\u5206\u6790\uff0c\u5305\u62ec\u5355\u6838\u82f7\u9178\u7a81\u53d8\uff08SNV\uff09\u3001\u5c0f\u7684\u63d2\u5165\u548c\u7f3a\u5931\uff08Indel\uff09\u3001\u62f7\u8d1d\u6570\u53d8\u5316\uff08CNA\uff0c\u6709\u65f6\u4e5f\u53ebCNV\uff09\u548c\u5927\u7684\u7ed3\u6784\u53d8\u5316\uff08SV\uff0c\u63d2\u5165\uff0c\u5012\u4f4d\uff0c\u6613\u4f4d\u7b49\uff09\uff0c\u6784\u5efa\u7b97\u6cd5\u7b56\u7565\u7684\u5f02\u6784\u4f53\u96c6\u5408\uff0c\u7136\u540e\u4ece\u7b97\u6cd5\u4e0a\u5206\u6790\u51fa\u76f8\u5e94\u7684\u57fa\u56e0\u5e8f\u5217\u53d8\u5f02\u7684\u96c6\u5408\u3002\u8fd9\u4e2a\u6b65\u9aa4\u7684\u51c6\u786e\u6027\u9ad8\u5ea6\u4f9d\u8d56\u4e8e\u78b1\u57fa\u8d28\u91cf\uff08\u6b65\u9aa41\uff09\u548c\u6bd4\u5bf9\u8d28\u91cf\uff08\u6b65\u9aa42\uff09\u3002\u5bf9\u4e8eSNV\u548cIndels\uff0c\u5e38\u7528\u7684\u6587\u4ef6\u683c\u5f0f\u5305\u62ec\uff1a<\/div>\n
1\uff09VCF\uff1ahttps:\/\/samtools.github.io\/hts-specs\/VCFv4.3.pdf\u00a0<\/div>\n
2\uff09gVCF\uff1ahttps:\/\/sites.google.com\/site\/gvcftools\/home\/about-gvcf\/gvcf-conventions\uff0chttps:\/\/github.com\/The-Sequence-Ontology\/Specifications\/blob\/master\/gvf.md<\/div>\n
3\uff09HGVS\u683c\u5f0f\uff1ahttp:\/\/varnomen.hgvs.org\/bg-material\/simple\/<\/div>\n
4\uff09GAfGa\u683c\u5f0f\uff1ahttp:\/\/genomicsandhealth.org\/working-groups\/our-work\u00a0<\/div>\n
\u6b65\u9aa43\u57fa\u4e8e\u539f\u59cb\u5e8f\u5217\uff0c\u6bd4\u5bf9\u7ed3\u679c\u6765\u68c0\u6d4b\u6837\u672c\u4e2d\u53ef\u80fd\u5b58\u5728\u7684\u75be\u75c5\u548c\u5176\u4ed6\u8868\u578b\u76f8\u5173\u57fa\u56e0\u53d8\u5f02\uff08\u57fa\u56e0\u7a81\u53d8\uff09\u3002<\/div>\n
\u00a0<\/div>\n
4. \u53d8\u5f02\u8fc7\u6ee4\uff08Variant filtering\uff09<\/div>\n
\u8fd9\u90e8\u5206\u8fc7\u6ee4\u57fa\u4e8e\u6570\u636e\u5c42\u9762\uff0c\u5305\u62ec\u6d4b\u5e8f\u6570\u636e\u8d28\u91cf\uff0c\u6bd4\u5bf9\u7387\uff0c\u6df1\u5ea6\uff0c\u8986\u76d6\u5ea6\u7b49\u3002\u4ece\u5343\u6216\u4e07\u6570\u91cf\u7ea7\u7684\u5e8f\u5217\u53d8\u5f02\u4e2d\u8fdb\u884c\u521d\u6b65\u8fc7\u6ee4\u3002<\/div>\n
5. \u53d8\u5f02\u6ce8\u91ca\uff08Variant annotation\uff09<\/div>\n
\u57fa\u4e8e\u8fc7\u6ee4\u540e\u57fa\u56e0\u53d8\u5f02\uff0c\u901a\u8fc7\u5df2\u77e5\u7684\u548c\u57fa\u56e0\u529f\u80fd\u76f8\u5173\u7684\u6570\u636e\u5e93\uff0c\u4f8b\u5982COSMIC\uff0cTCGA\uff0cdbSNP\uff0cClinVar\u7b49\uff0c\u5bf9\u5e94\u57fa\u56e0\u53d8\u5f02\u6620\u5c04\u5230\u7684\u86cb\u767d\u7b49\u5176\u4ed6\u4fe1\u606f\uff0c\u4ece\u800c\u6765\u5bf9\u53d8\u5f02\u8fdb\u884c\u6ce8\u91ca\u3002 \u7528\u4e8e\u5bf9\u53d8\u5f02\u7684\u8fdb\u4e00\u6b65\u7b5b\u9009\u548c\u89e3\u8bfb\u3002<\/div>\n
6. \u53d8\u5f02\u89e3\u8bfb\uff08Variant prioritization\uff09<\/div>\n
\u5728\u6240\u6709\u57fa\u672c\u6570\u636e\u5206\u6790\u5b8c\u6210\u540e\uff0c\u5fc5\u987b\u8981\u7ed3\u5408\u4e34\u5e8a\u8868\u578b\u3001\u4e34\u5e8a\u77e5\u8bc6\u5e93\uff0c\u9700\u8981\u5728\u9057\u4f20\u5b66\u5bb6\u3001\u9057\u4f20\u54a8\u8be2\u5e08\u3001\u4e34\u5e8a\u533b\u5e08\u7684\u53c2\u4e0e\u4e0b\u8fdb\u4e00\u6b65\u5bf9\u5f97\u5230\u7684\u82e5\u5e72\u57fa\u56e0\u53d8\u5f02\u8fdb\u884c\u5206\u6790\uff0c\u6765\u5224\u65ad\u5b83\u4eec\u4e0e\u75be\u75c5\u548c\u8868\u578b\u5173\u8054\u7684\u4f18\u5148\u7ea7\u987a\u5e8f\u3002<\/div>\n
\u00a0<\/div>\n
4\u300117\u6761\u5171\u8bc6\u5efa\u8bae<\/div>\n
\u8fd917\u6761\u5171\u8bc6\u5bf9\u4e8e\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u7684\u89c4\u8303\u4ee5\u53ca\u4e34\u5e8a\u5e94\u7528\u7684\u76d1\u7ba1\u975e\u5e38\u91cd\u8981\u3002\u4e3a\u786e\u4fdd\u5176\u51c6\u786e\u6027\u548c\u539f\u6c41\u539f\u5473\uff0c\u6b64\u5904\u4e0d\u505a\u7ffb\u8bd1\uff0c\u5f15\u7528\u539f\u6587\uff1a<\/div>\n
Consensus Recommendation Statements for NGS Bioinformatics Pipeline Validation.#Statement1Clinical laboratories offering NGS-based testing should perform their own validation of the bioinformatics pipeline2A qualified medical professional with appropriate training in NGS interpretation and certification must oversee and be involved in the validation process3Validation must be performed only after completion of design, development, optimization, and familiarization of the bioinformatics pipeline and its components4Bioinformatics pipeline validation should closely emulate the real world environment of the laboratory in which the test is performed5Validation should include all individual components of the bioinformatics pipeline used in the analysis, and each component must be reviewed and approved by an appropriately qualified medical molecular professional and the laboratory director6The design and implementation of the bioinformatics pipeline must ensure the security of identifiable patient information and be compliant with all applicable laws at the local, state, and national levels7Validation of the NGS bioinformatics pipeline must be appropriate and applicable for the intended clinical use, specimen, and variant types detected of the NGS test8Laboratories must ensure that the design, implementation, and validation of the bioinformatics pipeline are compliant with applicable laboratory accreditation standards and regulations9The bioinformatics pipeline is part of the test procedure, and its components and processes must be documented according to laboratory accreditation standards and regulations10The identity of the sample must be preserved throughout each step of the NGS bioinformatics pipeline with a minimum of four unique identifiers including a unique location identifier within the content of each data file read and\/or generated by the pipeline11Specific quality control and quality assurance parameters must be evaluated during validation and used to determine satisfactory performance of the bioinformatics pipeline12The methods used to alter or filter sequence reads at any point in the bioinformatics pipeline prior to interpretation must be validated to ensure that the data presented for interpretation accurately and reproducibly represent the sequence in the specimen, and full documentation of these methods must be kept as part of the test documentation according to laboratory accreditation standards and regulations13Laboratories must include specific measures to ensure that each data file generated in the bioinformatics pipeline maintains its integrity and provides alerts for or prevents the use of data files which have been altered in an unauthorized or unintended manner14In silico\u00a0validation can be used to supplement the validation of the bioinformatics pipeline but shall not be used in lieu of end-to-end validation of the bioinformatics pipelines using human samples15Validation of the bioinformatics pipeline must include confirmation of a representative set of variants with high quality independent data; appropriate validation metrics by variant type should be reported16Clinical laboratories must ensure the accuracy of software-generated HGVS variant nomenclature and annotations and have an alert in place to indicate when the software-generated nomenclature and annotations need to be manually reviewed and\/or corrected, and documentation of any corrections must be maintained17Supplemental validation is required whenever a significant change is made to any component of the bioinformatics pipeline<\/p>\n
\u00a0<\/div>\n
5\u3001\u6807\u51c6\u548c\u89c4\u8303\u7684\u5ba1\u6838\u8fc7\u7a0b<\/div>\n
\u4e3a\u4e86\u8bf4\u660e\u8fd9\u5957\u300a\u4e34\u5e8aNGS\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u9a8c\u8bc1\u6807\u51c6\u548c\u6307\u5357\u300b\u7684\u5f62\u6210\u4e25\u8c28\u6027\uff0cAMP\u548cCAP\u8fd8\u5217\u4e3e\u4e86\u5982\u4f55\u901a\u8fc7PubMed\u5b66\u672f\u671f\u520a\u6570\u636e\u5e93\u6765\u5ba1\u6838\uff08review\uff09\u6b64\u89c4\u8303\u7684\u8fc7\u7a0b\uff1a<\/div>\n<\/div>\n\n
\n![\"RmFicvQBAkgB1cvqDHibG87Mpx4MCqqSiaficwJJtib9tfE1TmF63zohtdNcdG6fSN8kLnrPJhtzbiaXL5E38UdI9fxg\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB1cvqDHibG87Mpx4MCqqSiaficwJJtib9tfE1TmF63zohtdNcdG6fSN8kLnrPJhtzbiaXL5E38UdI9fxg.jpeg\")
<\/figure><\/div>\n\n
<\/figure><\/div>\n\n\u56fe3\uff0c\u901a\u8fc7\u67e5\u9605\u6587\u4ef6\u5ba1\u6838\u300a\u4e34\u5e8aNGS\u751f\u7269\u4fe1\u606f\u6d41\u7a0b\u9a8c\u8bc1\u6807\u51c6\u548c\u6307\u5357\u300b\u7684\u8fc7\u7a0b<\/div>\n
\u7f16\u8005\uff1aMaple\u00a0 \u00a0|\u00a0 \u6821\u5bf9\uff1a\u4ea6\u8695\u3001Cindy\u00a0 \u00a0|\u00a0 \u5ba1\u6838\uff1a\u8292\u679c<\/div>\n
——– \u6b63\u6587\u5b8c\u00a0——–<\/div>\n
\u00a0<\/div>\n
\u60a8\u53ef\u80fd\u8fd8\u4f1a\u611f\u5174\u8da3\u7684<\/div>\n
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\n![\"RmFicvQBAkgB2Wkia2jicswicwcVoFyjgcfggACN9HiaErH4gXdhT1rGjXrGOpcGb2yWwKlF3VO9l7Dz9E2OP70O2iag\"\/](\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB2Wkia2jicswicwcVoFyjgcfggACN9HiaErH4gXdhT1rGjXrGOpcGb2yWwKlF3VO9l7Dz9E2OP70O2iag.gif\")
<\/figure><\/div>\n\n<\/div>\n
<\/figure><\/div>\n\n<\/div>\n<\/div>\n
<\/div>","protected":false},"excerpt":{"rendered":"
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