{"id":11022,"date":"2016-12-18T17:58:43","date_gmt":"2016-12-18T09:58:43","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&mid=100000021&idx=1&sn=a4210357d691456a8a69066a1c5206b3&chksm=6b72b3a25c053ab4df0e925a26a5084946f64a9dd691f0701a5617d02d7685c85c545e85773b#rd"},"modified":"2026-04-09T14:17:24","modified_gmt":"2026-04-09T06:17:24","slug":"574998","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2016\/12\/18\/574998\/","title":{"rendered":"\u764c\u75c7\u5e8f\u5217\u53d8\u5f02\u89e3\u91ca\u548c\u62a5\u544a\u7684\u6807\u51c6\u548c\u6307\u5357\uff08ASCO\u548cCAP\u8054\u5408\u63a8\u8350\uff09"},"content":{"rendered":"

<\/p>\n

Geneclub<\/div>\n
\u57fa\u56e0\u6167<\/div>\n
\u5173\u952e\u8bcd\uff1a\u764c\u75c7 \u57fa\u56e0\u68c0\u6d4b\u89e3\u8bfb ASCO CAP<\/div>\n
\u9605\u8bfb\u7528\u65f6\uff1a\u7ea610\u5206\u949f<\/div>\n
\u5185\u5bb9\u7b80\u4ecb\uff1a\u8fd1\u65e5\uff0cASCO\u548cCAP\u8054\u5408\u63a8\u8350\u53d1\u8868\u4e86\u300a\u764c\u75c7\u5e8f\u5217\u53d8\u5f02\u89e3\u8bfb\u548c\u62a5\u544a\u300b\uff0c\u57fa\u56e0\u6167\u7f16\u8bd1\u6574\u7406\u8981\u70b9\uff0c\u4ec5\u4f9b\u53c2\u8003\uff0c\u6b22\u8fce\u6307\u6b63\u4ea4\u6d41\u3002\u7248\u6743\u6240\u6709\uff0c\u8f6c\u8f7d\u8bf7\u8054\u7cfb\u540e\u53f0\u3002<\/div>\n
\u00a0<\/div>\n
\u6587\u732e\u539f\u6587<\/div>\n
\u671f\u520a\uff1a<The Journal ofMolecular Diagnostics> DOI:10.1016\/j.jmoldx.2016.10.002<\/div>\n
\u539f\u6587\u6807\u9898\uff1aStandards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer\u00a0<\/div>\n
\u539f\u6587\u4e0b\u8f7d\uff1ahttp:\/\/jmd.amjpathol.org\/article\/S1525-1578(16)30223-9\/pdf<\/div>\n
\u6587\u7ae0\u8981\u70b9\u7f16\u8bd1\u5982\u4e0b\uff0c\u4ec5\u4f9b\u53c2\u8003\uff0c\u6b22\u8fce\u6307\u6b63\u3002<\/div>\n
\u7248\u6743\u6240\u6709\uff0c\u8f6c\u8f7d\u8bf7\u6ce8\u660e\u6765\u6e90\uff1a\u57fa\u56e0\u6167\u8ba2\u9605\u53f7\u3002<\/div>\n
\u672c\u6587\u7ea64000\u5b57\uff0c\u4e3a\u65b9\u4fbf\u9605\u8bfb\uff0c\u76ee\u5f55\u5982\u4e0b\uff1a<\/div>\n
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1.\u5bfc\u8bfb<\/div>\n
2.\u6570\u636e\u5e93<\/div>\n
\u00a0 2.1 \u57fa\u56e0\u7ec4\u6570\u636e\u5e93<\/div>\n
\u00a0 \u00a0 \u00a0 2.1.1 \u5927\u578b\u80bf\u7624\u57fa\u56e0\u7ec4\u6570\u636e\u5e93<\/div>\n
\u00a0 \u00a0 \u00a0 2.1.2 \u4f53\u7ec6\u80de\u5e8f\u5217\u53d8\u5f02\u89e3\u91ca\u76f8\u5173\u6570\u636e\u5e93<\/div>\n
\u00a0 \u00a0 \u00a0 2.1.3 \u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u5728\u5e94\u7528\u516c\u5171\u6570\u636e\u5e93\u65f6\u4e00\u822c\u7684\u6ce8\u610f\u4e8b\u9879<\/div>\n
\u00a0 2.2 \u53c2\u8003\u5e8f\u5217\u6570\u636e\u5e93<\/div>\n
\u00a0 2.3 \u7fa4\u4f53\u9057\u4f20\u5b66\u6570\u636e\u5e93<\/div>\n
\u00a0 2.4 \u80bf\u7624\u7279\u5f02\u6027\u6570\u636e\u5e93<\/div>\n
\u00a0 2.5 \u539f\u53d1\u6027\u53d8\u5f02\u6570\u636e\u5e93<\/div>\n
\u00a0 2.6 \u5185\u90e8\u6570\u636e\u5e93\uff08\u5b9e\u9a8c\u5ba4\u4ea7\u751f\uff09<\/div>\n
3. \u9884\u6d4b\u7b97\u6cd5\u548c\u8f6f\u4ef6<\/div>\n
4. \u5e8f\u5217\u53d8\u5f02\u9274\u5b9a\u4e0e\u6ce8\u91ca<\/div>\n
5. \u57fa\u4e8e\u8bc1\u636e\u7684\u4f53\u7ec6\u80de\u53d8\u5f02\u5206\u7c7b\u7684\u6307\u5bfc\u610f\u89c1<\/div>\n
6. \u68c0\u6d4b\u7ed3\u679c\u62a5\u544a\u4e0e\u89e3\u8bfb<\/div>\n
7. \u7ed3\u8bba<\/div>\n
8. \u514d\u8d23\u58f0\u660e<\/div>\n
\u00a0<\/div>\n
1\u5bfc\u8bfb<\/div>\n
\u57fa\u4e8e\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672f\u7684\u80bf\u7624\u68c0\u6d4b\u5df2\u8d8a\u6765\u8d8a\u591a\u7684\u5e94\u7528\u4e8e\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u4e2d\uff0c\u4f46\u76ee\u524d\u5728\u4e0d\u540c\u5b9e\u9a8c\u5ba4\u95f4\u5b58\u5728\u68c0\u6d4b\u65b9\u6cd5\u3001\u62a5\u544a\u5185\u5bb9\u7b49\u65b9\u9762\u7684\u5dee\u5f02\uff0c\u8fd9\u5bf9\u9057\u4f20\u68c0\u6d4b\u7684\u89e3\u8bfb\u4ee5\u53ca\u666e\u53ca\u5e94\u7528\u9020\u6210\u4e86\u4e00\u5b9a\u7684\u5f71\u54cd\u3002\u56e0\u6b64\uff0c\u5728\u4e0d\u540c\u5b9e\u9a8c\u5ba4\u95f4\u5efa\u7acb\u7edf\u4e00\u7684\u5206\u5b50\u68c0\u6d4b\u7ed3\u679c\u7684\u89e3\u8bfb\u548c\u62a5\u544a\u6807\u51c6\uff0c\u53ca\u5efa\u7acb\u884c\u4e1a\u6807\u51c6\uff0c\u663e\u5f97\u5c24\u4e3a\u8feb\u5207\u3002<\/div>\n
\u57282015\u5e74\u6625\u5929\uff0c\u5728\u7f8e\u56fd\u4e13\u95e8\u6210\u7acb\u4e86\u4e00\u4e2a\u4ee5\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u4e3a\u6838\u5fc3\u7684\u5de5\u4f5c\u7ec4\uff0c\u5176\u7ec4\u6210\u5305\u542b\u4e86\u5206\u5b50\u75c5\u7406\u534f\u4f1a\uff08AMP\uff09\u3001\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u57fa\u56e0\u7ec4\u5b66\u534f\u4f1a\uff08ACMGG\uff09\u3001\u7f8e\u56fd\u4e34\u5e8a\u80bf\u7624\u5b66\u4f1a(ASCO\uff09\u4e0e\u7f8e\u56fd\u75c5\u7406\u5b66\u5bb6\u534f\u4f1a\uff08CAP)\u7684\u4e00\u7ebf\u4e13\u5bb6\uff0c\u8be5\u5de5\u4f5c\u7ec4\u7684\u4e3b\u8981\u5de5\u4f5c\u4e3a\u5bf9\u80bf\u7624\u53ca\u7591\u4f3c\u80bf\u7624\u76f8\u5173\u7684\u5e8f\u5217\u53d8\u5f02\u68c0\u6d4b\u5efa\u7acb\u68c0\u6d4b\u6807\u51c6\u5e76\u5728\u884c\u4e1a\u8fbe\u6210\u5171\u8bc6\u3002<\/div>\n
\u8be5\u5de5\u4f5c\u7ec4\u9996\u5148\u5bf9\u5317\u7f8e\u5730\u533a\u8d85\u8fc740\u5bb6\u7684\u4e34\u5e8a\u68c0\u6d4b\u5b9e\u9a8c\u5ba4\u8fdb\u884c\u4e86\u95ee\u5377\u8c03\u67e5\uff0c\u7ed3\u679c\u663e\u793a\u4e0d\u540c\u5b9e\u9a8c\u5ba4\u5728\u68c0\u6d4b\u7ec4\u7ec7\u7c7b\u578b\u3001\u68c0\u6d4b\u57fa\u56e0\u6570\u91cf\u3001\u662f\u5426\u68c0\u6d4b\u80bf\u7624\u7ec4\u7ec7\u5168\u5916\u663e\u5b50\u7ec4\u6216\u5168\u57fa\u56e0\u7ec4\u3001\u4ee5\u53ca\u5176\u4ed6\u7ec6\u8282\u65b9\u9762\u90fd\u5b58\u5728\u8f83\u5927\u5dee\u522b\uff0c\u6b64\u5916\u5728\u4e0d\u540c\u5355\u4f4d\u7684\u68c0\u6d4b\u62a5\u544a\u7684\u62a5\u544a\u5185\u5bb9\u65b9\u9762\u4e5f\u5b58\u5728\u8f83\u591a\u5dee\u5f02\u3002\u8be5\u5de5\u4f5c\u7ec4\u8ba4\u4e3a\uff0c\u4e3a\u533b\u7597\u673a\u6784\u63d0\u4f9b\u5206\u7c7b\u7684\u9057\u4f20\u53d8\u5f02\u62a5\u544a\u5bf9\u75c5\u4eba\u53ca\u6574\u4e2a\u533b\u7597\u884c\u4e1a\u90fd\u6781\u4e3a\u91cd\u8981\uff0c\u5305\u62ec\uff1a\u63d0\u4f9b\u7cbe\u786e\u7684\u80bf\u7624\u5bf9\u9776\u5411\u6cbb\u7597\u53cd\u5e94\u6027\u4fe1\u606f\uff1b\u5efa\u7acb\u56fd\u5bb6\u7ea7\u522b\u7684\u533b\u7597\u6307\u5357\uff1b\u4ee5\u53ca\u4e0e\u4e34\u5e8a\u8bd5\u9a8c\u5408\u4f5c\uff0c\u5bf9\u5efa\u7acb\u4e0d\u540c\u5b9e\u9a8c\u5ba4\u95f4\u7684\u901a\u7528\u6807\u51c6\u63d0\u4f9b\u652f\u6301\u3002\u57fa\u4e8e\u4ee5\u4e0a\u8fd9\u4e9b\u8003\u91cf\uff0c\u5de5\u4f5c\u7ec4\u4e13\u5bb6\u4eec\u6839\u636e\u5df2\u6709\u6570\u636e\u3001\u6587\u732e\u62a5\u9053\u548c\u4e13\u4e1a\u77e5\u8bc6\uff0c\u7ed9\u51fa\u4ee5\u4e0b\u6307\u5357\u5efa\u8bae.<\/div>\n\n
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\"RmFicvQBAkgDktJbJYqU3g7DUEicS4bt7iaiayVD1qbjDGvZDoFwfEPRMFiapzVG9XBqdv4ZDmq6grYRcaAY4rribib0w\"\/<\/figure><\/div>\n\n

\u56fe1 AMP\u5bf9NGS\u6280\u672f\u53caNGS\u7ed3\u679c\u89e3\u8bfb\u7684\u8c03\u7814 A: MAF\u9608\u503c. B: \u53d8\u5f02\u5206\u7c7b\u6570\u76ee C:\u62a5\u544a\u4e2d\u662f\u5426\u5305\u542b\u6cbb\u7597\u6027\u5efa\u8bae . D: \u62a5\u544a\u4e2d\u662f\u5426\u5305\u542b\u6f5c\u5728\u7684\u751f\u6b96\u7ec6\u80de\u7a81\u53d8. E: \u62a5\u544a\u662f\u5426\u5305\u542b\u53d8\u5f02\u7b49\u4f4d\u9891\u7387Variant allele frequency (VAF) F: \u62a5\u544a\u662f\u5426\u5305\u542b\u57fa\u56e0\u7ec4\u5750\u6807 G: \u62a5\u544a\u662f\u5426\u5305\u542b\u8f6c\u5f55\u672cID(Transcript accession) H: \u62a5\u544a\u662f\u5426\u5305\u542b\u4e0d\u7b26\u5408\u8d28\u63a7\u7684\u57fa\u56e0\/\u533a\u95f4<\/p>\n

2\u6570\u636e\u5e93<\/div>\n
2.1 \u57fa\u56e0\u7ec4\u6570\u636e\u5e93\u641c\u7d22<\/div>\n
2.1.1 \u5927\u578b\u80bf\u7624\u57fa\u56e0\u7ec4\u6570\u636e\u5e93<\/div>\n
\u5e38\u89c1\u7684\u6709\uff1a<\/div>\n
The National Cancer Institute\u2019s Genome Data Commons\uff0c\u5305\u542b\u4e86The Cancer Genome Atlas, Therapeutically Applicable Research to Generate Effective Therapies, \u548c the Cancer Genome Characterization Initiative\u00a0<\/div>\n
Catalog of Somatic Mutations in Cancer\u00a0<\/div>\n
\u00a0<\/div>\n
2.1.2 \u4f53\u7ec6\u80de\u5e8f\u5217\u53d8\u5f02\u89e3\u91ca\u76f8\u5173\u6570\u636e\u5e93\uff08\u4e0d\u5b8c\u5168\u7edf\u8ba1\uff09\uff1a<\/div>\n
Table 1 Databases Relevant to Interpretation of Somatic Sequence VariantsUtility\/functionDatabaseLocation (web address)Population databases to exclude polymorphisms1000 Genomes Project16http:\/\/browser.1000genomes.orgExome Variant Serverhttp:\/\/evs.gs.washington.edu\/EVSdbSNP17http:\/\/www.ncbi.nlm.nih.gov\/snpdbVar18http:\/\/www.ncbi.nlm.nih.gov\/dbvarExAChttp:\/\/exac.broadinstitute.orgCancer-specific variant databasesCatalog of Somatic Mutations in Cancer19http:\/\/cancer.sanger.ac.uk\/cosmicMy Cancer Genomehttp:\/\/www.mycancergenome.orgPersonalized cancer therapy, MD Anderson Cancer Centerhttps:\/\/pct.mdanderson.orgcBioPortal, Memorial Sloan Kettering Cancer Center20http:\/\/www.cbioportal.orgIntogen21https:\/\/www.intogen.org\/searchClinicalTrials.govhttps:\/\/clinicaltrials.govIARC (WHO) TP53 mutation database22http:\/\/p53.iarc.frPediatric Cancer Genome Project (St. Jude Children’s Research Hospital\u2013Washington University)http:\/\/explorepcgp.orgInternational Cancer Genome Consortium23https:\/\/dcc.icgc.orgSequence repositories and data hostsNCBI Genomehttp:\/\/www.ncbi.nlm.nih.gov\/genomeRefSeqGene24http:\/\/www.ncbi.nlm.nih.gov\/refseq\/rsgLocus Reference Genomic25http:\/\/www.lrg-sequence.orgUCSC table browser26https:\/\/genome.ucsc.edu\/cgi-bin\/hgTablesEnsemble BioMart27http:\/\/useast.ensembl.org\/biomart\/martviewOther disease\/mutation databases useful in the context of variant interpretation for cancer genomicsClinVar28http:\/\/www.ncbi.nlm.nih.gov\/clinvarHuman Gene Mutation Database29http:\/\/www.hgmd.orgLeiden Open Variation Database30http:\/\/www.lovd.nldbNSFP (compiled database of precomputed\u00a0in silico\u00a0prediction scores for nonsynonymous SNVs)31https:\/\/sites.google.com\/site\/jpopgen\/dbNSFPEnsemble Variant Effect Predictor15http:\/\/www.ensembl.org\/info\/docs\/tools\/vep\/index.html<\/div>\n
\u00a0<\/div>\n
2.1.3 \u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u5728\u5e94\u7528\u516c\u5171\u6570\u636e\u5e93\u65f6\u4e00\u822c\u7684\u6ce8\u610f\u4e8b\u9879\uff1a<\/div>\n
\u4e86\u89e3\u6570\u636e\u5e93\u5185\u5bb9\u53ca\u6570\u636e\u7ec4\u7ec7\u5f62\u5f0f\uff1b<\/div>\n
\u7279\u522b\u6ce8\u610f\u6570\u636e\u5e93\u7684\u9650\u5236\uff0c\u907f\u514d\u68c0\u6d4b\u7ed3\u679c\u8fc7\u5ea6\u89e3\u8bfb\uff1b<\/div>\n
\u6ce8\u610f\u57fa\u56e0\u7ec4\u4e0e\u8f6c\u5f55\u7ec4\u7684\u7ec4\u88c5\u7248\u672c\uff0c\u5e94\u4e0eHuman Genome Variation Society (HGVS)\u6ce8\u91ca\u4e00\u81f4\uff1b<\/div>\n
\u6839\u636e\u5df2\u6709\u8d44\u6e90\u8bc4\u4f30\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u8d28\u91cf\uff1b<\/div>\n
\u786e\u8ba4\u7528\u4e8e\u75c5\u7406\u8bca\u65ad\u7684\u6570\u636e\u8d28\u91cf\u3002<\/div>\n
\u00a0<\/div>\n
2.2 \u53c2\u8003\u5e8f\u5217\u6570\u636e\u5e93\u641c\u7d22<\/div>\n
\u5e38\u89c1\u53c2\u8003\u5e8f\u5217\u6570\u636e\u5e93\uff08Reference Sequence Databases) \u7528\u4e8e\u4eba\u7c7b\u57fa\u56e0\u7ec4\u7ec4\u88c5\u53ca\u76f8\u5173\u4fe1\u606f\uff0c\u5305\u62ec\u57fa\u56e0\u7ec4\u5750\u6807\uff0c\u8f6c\u5f55\u672c\u7248\u672c\uff0c\u5916\u663e\u5b50\u8fb9\u754c\u7b49\u7b49\u3002\u5e38\u89c1\u7684\u6709\uff1a<\/div>\n
RefSeq (National Center for BiotechnologyInformation Reference Sequence Database, https:\/\/www.ncbi.nlm.nih.gov\/)\uff0c<\/div>\n
Ensembl (http:\/\/www.ensembl.org\/index.html)<\/div>\n
Locus Reference Genomic (https:\/\/www.lrg-sequence.org\uff09<\/div>\n
\u00a0<\/div>\n
2.3 \u7fa4\u4f53\u9057\u4f20\u5b66\u6570\u636e\u5e93\u641c\u7d22<\/div>\n
\u7fa4\u4f53\u9057\u4f20\u5b66\u6570\u636e\u5e93\uff08Population Databases\uff09\u63d0\u4f9b\u57fa\u56e0\u591a\u6001\u6027\u3001\u4eba\u7fa4\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\u7b49\u4fe1\u606f\uff0c\u7528\u4e8e\u533a\u5206\u6d4b\u5e8f\u7ed3\u679c\u4e2d\u7684\u591a\u6001\u6027\u4e0e\u7a81\u53d8\uff0c\u5e38\u89c1\u7684\u6709\uff1a<\/div>\n
The Database of Short Genetic Variation (the National Center for Biotechnology Information database of genetic variation)<\/div>\n
Exome Variant Server<\/div>\n
Exome Aggregation Consortium<\/div>\n
\u00a0<\/div>\n
2.4 \u80bf\u7624\u7279\u5f02\u6027\u6570\u636e\u5e93\u641c\u7d22<\/div>\n
\u80bf\u7624\u7279\u5f02\u6027\u6570\u636e\u5e93\uff08Cancer-Specific Databases \uff09\u63d0\u4f9b\u6c47\u603b\u4e4b\u540e\u7684\u4e0d\u540c\u80bf\u7624\u7c7b\u578b\u53ca\u4e9a\u578b\u95f4\u7684\u5e8f\u5217\u53d8\u5f02\u53d1\u751f\u7387\u3001\u5916\u663e\u7387\u7b49\u4fe1\u606f\uff1a<\/div>\n
\u6570\u636e\u5e93\u5217\u8868\u89c12.1.1 Table 1<\/div>\n
\u00a0<\/div>\n
2.5\u00a0\u539f\u53d1\u6027\u53d8\u5f02\u6570\u636e\u5e93\u641c\u7d22<\/div>\n
\u539f\u53d1\u6027\u53d8\u5f02\u6570\u636e\u5e93\uff08Constitutional Variant Databases\uff09\u4e3b\u8981\u7528\u4e8e\u533a\u5206\u751f\u6b96\u7cfb\u53d8\u5f02\u4e0e\u4f53\u7ec6\u80de\u53d8\u5f02\uff0c\u5e38\u7528\u7684\u6709:<\/div>\n
Human Gene Mutation Database<\/div>\n
ClinVar (http:\/\/www.ncbi.nlm.nih.gov\/clinvar)<\/div>\n
\u00a0<\/div>\n
2.6 \u5185\u90e8\u6570\u636e\u5e93\uff08\u5b9e\u9a8c\u5ba4\u4ea7\u751f\uff09\u641c\u7d22<\/div>\n
\u5b9e\u9a8c\u5ba4\u6839\u636e\u5185\u90e8\u8d44\u6e90\u72ec\u7acb\u5efa\u7acb\u7684\u6570\u636e\u5e93\uff0c\u53ef\u7528\u4e8e\u53d8\u5f02\u6ce8\u91ca\uff0c\u5c06\u6765\u5c06\u4f1a\u9010\u6b65\u6574\u5408\u5230\u516c\u5171\u6570\u636e\u5e93\u8d44\u6e90\u4e2d\u3002<\/div>\n
\u00a0<\/div>\n
3\u3001\u9884\u6d4b\u7b97\u6cd5\u548c\u8f6f\u4ef6<\/div>\n
\u00a0\u9884\u6d4b\u7b97\u6cd5\u548c\u8f6f\u4ef6\u5e38\u7528\u4e8e\u9884\u6d4b\u57fa\u56e0\u4e2d\u6838\u82f7\u9178\u7684\u53d8\u5316\u662f\u5426\u4f1a\u5f71\u54cd\u57fa\u56e0\u7684\u7ed3\u6784\u548c\u86cb\u767d\u8d28\u7684\u529f\u80fd\uff0c\u603b\u4f53\u4e0a\u770b\uff0c\u76ee\u524d\u7684\u751f\u7269\u4fe1\u606f\u5b66\u7b97\u6cd5\u8fd8\u65e0\u6cd5\u4fdd\u8bc1\u8db3\u591f\u9ad8\u7684\u7279\u5f02\u6027\uff0c\u56e0\u6b64\u5efa\u8bae\u4e0d\u8981\u5c06\u9884\u6d4b\u7ed3\u679c\u4f5c\u4e3a\u4e34\u5e8a\u5206\u7c7b\u4e0e\u4e34\u5e8a\u51b3\u7b56\u7684\u552f\u4e00\u8bc1\u636e\u3002<\/div>\n
Table\u00a02\u00a0Algorithms for Computational Prediction of Functional Impact of Sequence Variant\/Splice Site ChangesUtility\/functionAlgorithm\/softwareLocation (web address)Missense SNVPolyPhen237http:\/\/genetics.bwh.harvard.edu\/pph2SIFT38http:\/\/sift.jcvi.orgMutationAssessor39http:\/\/mutationassessor.orgMutationTaster41http:\/\/www.mutationtaster.orgPROVEAN45http:\/\/provean.jcvi.org\/index.phpCondel46http:\/\/bg.upf.edu\/blog\/2012\/12\/condel-for-prioritization-of-variants-involved-in-hereditary-diseases-and-transfic-for-cancerCoVEC40https:\/\/sourceforge.net\/projects\/covec\/filesCADD47http:\/\/cadd.gs.washington.eduGERP++48http:\/\/mendel.stanford.edu\/sidowlab\/downloads\/gerp\/index.htmlPhyloP and PhastCons49http:\/\/compgen.bscb.cornell.edu\/phastSplice site predictionHuman Splicing Finder42http:\/\/www.umd.be\/HSF3MaxEntScan43http:\/\/genes.mit.edu\/burgelab\/maxent\/Xmaxentscan_scoreseq.htmlNetGene244http:\/\/www.cbs.dtu.dk\/services\/NetGene2NNSplice50http:\/\/www.fruitfly.org\/seq_tools\/splice.htmlGeneSplicer51http:\/\/www.cbcb.umd.edu\/software\/GeneSplicer\/gene_spl.shtml<\/div>\n
\u00a0<\/div>\n
4\u3001\u53d8\u5f02\u9274\u5b9a\u4e0e\u6ce8\u91ca<\/div>\n
\u901a\u5e38\u7531\u8f6f\u4ef6\u6765\u9274\u5b9a\u548c\u6ce8\u91ca\u53d8\u5f02\u3002\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u9700\u6ce8\u610f\u8f6f\u4ef6\u5de5\u5177\u7684\u5c40\u9650\u6027\u3002\u6d4b\u5e8f\u6df1\u5ea6\u3001\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\u7b49\u4fe1\u606f\u9700\u52a0\u4ee5\u8003\u8651\u3002\u76ee\u524d\u8f83\u4e3a\u901a\u884c\u7684\u6ce8\u91ca\u6587\u4ef6\u683c\u5f0f\u4e3aVCF\u683c\u5f0f\uff0c\u53ef\u4ece\u4e2d\u5206\u6790\u76f8\u5173\u4fe1\u606f\u3002\u5e38\u89c1\u8f6f\u4ef6\u6709\uff1a<\/div>\n
Variant \u00a0caller<\/div>\n
Location \u00a0(URL)<\/div>\n
MuTect v1.1.555<\/div>\n
https:\/\/www.broadinstitute.org\/cancer\/cga\/mutect\u00a0GATK \u2013 MuTect v2<\/div>\n
https:\/\/www.broadinstitute.org\/gatk\/guide\/tooldocs\/org_broadinstitute_gatk_tools_walkers_cancer_m2_MuTect2.phpVarScan 256<\/div>\n
http:\/\/dkoboldt.github.io\/varscan\/VarDict57<\/div>\n
https:\/\/github.com\/AstraZeneca-NGS\/VarDict\u00a0Sterlka58<\/div>\n
https:\/\/sites.google.com\/site\/strelkasomaticvariantcaller\/FreeBayes59<\/div>\n
https:\/\/github.com\/ekg\/freebayes\u00a0Scalpel60<\/div>\n
http:\/\/scalpel.sourceforge.net\/Pindel61<\/div>\n
http:\/\/gmt.genome.wustl.edu\/packages\/pindel\/SAMtools62<\/div>\n
http:\/\/samtools.sourceforge.net\/Torrent Suite Variant Caller<\/div>\n
https:\/\/github.com\/iontorrent\/TSSomaticSniper63<\/div>\n
http:\/\/gmt.genome.wustl.edu\/packages\/somatic-sniper\/<\/div>\n
\u00a0<\/div>\n
5\u3001\u57fa\u4e8e\u8bc1\u636e\u7684\u4f53\u7ec6\u80de\u53d8\u5f02\u5206\u7c7b\u7684\u6307\u5bfc\u610f\u89c1<\/div>\n
\u57fa\u4e8e\u5faa\u8bc1\u533b\u5b66\u7684\u4f53\u7ec6\u80de\u53d8\u5f02\u5206\u7c7b\u7684\u6307\u5bfc\u610f\u89c1\uff08Proposed Guideline for Evidence-Based Categorization of Somatic Variants\uff09\uff0c\u6839\u636e\u6587\u732e\u62a5\u9053\u53ca\u5de5\u4f5c\u7ec4\u4e13\u5bb6\u5171\u8bc6\uff0c\u63d0\u8bae\u5c06\u57fa\u56e0\u68c0\u6d4b\u76f8\u5173\u4e34\u5e8a\u53ca\u5b9e\u9a8c\u8bc1\u636e\u5206\u4e3a4\u7ea7\uff1a<\/div>\n
A\u7ea7\uff1a\u53ef\u4f5c\u4e3aFDA\u6279\u51c6\u6cbb\u7597\u67d0\u79cd\u7279\u5f02\u6027\u80bf\u7624\u7684\u751f\u7269\u6807\u5fd7\u7269\uff08biomarker\uff09\uff0c\u6216\u88ab\u6536\u5f55\u4e8e\u67d0\u4e9b\u7279\u6b8a\u7c7b\u578b\u80bf\u7624\u7684\u8bca\u65ad\u3001\u6cbb\u7597\u3001\u9884\u540e\u8bc4\u4ef7\u7684\u6743\u5a01\u6307\u5357\uff1b<\/div>\n
B\u7ea7\uff1a\u53ef\u4f5c\u4e3a\u57fa\u4e8e\u5f3a\u529b\u4e34\u5e8a\u8bd5\u9a8c\u8bc1\u636e\u548c\u4e13\u5bb6\u5171\u8bc6\u7684\u6cbb\u7597\u67d0\u79cd\u7279\u5f02\u6027\u80bf\u7624\u7684\u751f\u7269\u6807\u5fd7\u7269\uff0c\u6216\u7528\u4e8e\u8bca\u65ad\u3001\u9884\u540e\u8bc4\u4f30\uff1b<\/div>\n
C\u7ea7\uff1a\u53ef\u7528\u4e8e\u6307\u5bfcFDA\u6279\u51c6\u7684\u6807\u6ce8\u5916\u7528\u836f\uff0c\u6216\u57fa\u4e8e\u591a\u4e2a\u5c0f\u89c4\u6a21\u7814\u7a76\u7684\u8bc1\u636e\u7684\u8bca\u65ad\/\u9884\u540e\u8bc4\u4f30\uff1b<\/div>\n
D\u7ea7\uff1a\u7ed3\u679c\u4e0d\u786e\u5b9a\u7684\u4e34\u5e8a\u524d\u7814\u7a76\uff0c\u53ef\u4f5c\u4e3a\u8f85\u52a9\u6807\u5fd7\u7269\uff0c\u57fa\u4e8e\u5c0f\u89c4\u6a21\u7814\u7a76\u4e14\u672a\u8fbe\u6210\u5171\u8bc6\u3002<\/div>\n
\u76f8\u5e94\u7684\uff0c\u53ef\u5c06\u4f53\u7ec6\u80de\u57fa\u56e0\u7ec4\u53d8\u5f02\u7684\u4e34\u5e8a\u5f71\u54cd\u529b\u5206\u4e3a4\u7ea7\uff1a<\/div>\n
I\u7ea7\uff1a\u5177\u6709\u5f3a\u4e34\u5e8a\u610f\u4e49\u7684\u53d8\u5f02\uff08A\u7ea7\u548cB\u7ea7\u8bc1\u636e\uff09\uff1b<\/div>\n
II\u7ea7\uff1a\u5177\u6709\u6f5c\u5728\u4e34\u5e8a\u610f\u4e49\u7684\u53d8\u5f02\uff08C\u7ea7\u6216D\u7ea7\u8bc1\u636e\uff09\uff1b<\/div>\n
III\u7ea7\uff1a\u53d8\u5f02\u7684\u4e34\u5e8a\u610f\u4e49\u4e0d\u786e\u5b9a\uff1b<\/div>\n
IV\u7ea7\uff1a\u4e0e\u826f\u6027\u6216\u7591\u4f3c\u826f\u6027\u76f8\u5173\u7684\u53d8\u5f02\u3002<\/div>\n\n
\n
\"RmFicvQBAkgDktJbJYqU3g7DUEicS4bt7ia1oL406xk7iaqmIiaFxEPIoDt91xO4bvU10icOP6dxm2HepwOZg8ia4QPyQ\"\/<\/figure><\/div>\n\n

\u56fe2 \u57fa\u4e8e\u8bc1\u636e\u7684\u53d8\u5f02\u5206\u7c7b<\/p>\n

6\u3001\u68c0\u6d4b\u7ed3\u679c\u62a5\u544a\u4e0e\u89e3\u8bfb<\/p>\n

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\u6240\u6709\u68c0\u6d4b\u5230\u7684\u53d8\u5f02\u90fd\u9700\u8981\u6309\u7167HUGO\u57fa\u56e0\u547d\u540d\u59d4\u5458\u4f1a\u89c4\u5219\u6ce8\u91ca\u4e0e\u62a5\u544a\uff0c\u62a5\u544a\u4e2d\u4e5f\u5e94\u5305\u542b\u5176\u4ed6\u5fc5\u8981\u4fe1\u606f\uff1b<\/div>\n
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\u62a5\u544a\u68c0\u6d4b\u5230\u53d8\u5f02\u7684\u4e34\u5e8a\u610f\u4e49\uff1b<\/div>\n
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\u00a0<\/div>\n
7\u3001\u7ed3\u8bba<\/div>\n
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\u00a0<\/div>\n
8\u3001\u514d\u8d23\u58f0\u660e<\/div>\n
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\u00a0<\/div>\n
\u53c2\u8003\u8d44\u6599\uff1a<\/div>\n
http:\/\/jmd.amjpathol.org\/article\/S1525-1578(16)30223-9\/fulltext#appsec1<\/div>\n\n<\/div>\n
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\"RmFicvQBAkgBdjahCneB3E3WzqNt5CXswj4SI9t2jOaz9k9C02awlsvq8PGicVYsvVUXgwyBic3gaN1XEleyLmS9g\"\/<\/figure><\/div>\n\n<\/div>\n
<\/div>\n
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