{"id":57192,"date":"2024-06-16T18:55:27","date_gmt":"2024-06-16T10:55:27","guid":{"rendered":"http:\/\/www.biocloudservice.com\/wordpress\/?p=57192"},"modified":"2024-06-16T18:55:27","modified_gmt":"2024-06-16T10:55:27","slug":"%e5%b0%8f%e6%9e%9c%e5%b8%a6%e4%bd%a0%e4%b8%80%e8%b5%b7%e8%a7%a3%e9%94%81%e5%9f%ba%e5%9b%a0%e7%bb%84%e5%8f%98%e5%bc%82%e6%95%b0%e6%8d%ae%e5%88%86%e6%9e%90%e7%9a%84%e7%a7%98%e5%af%86","status":"publish","type":"post","link":"http:\/\/www.biocloudservice.com\/wordpress\/?p=57192","title":{"rendered":"\u5c0f\u679c\u5e26\u4f60\u4e00\u8d77\u89e3\u9501\u57fa\u56e0\u7ec4\u53d8\u5f02\u6570\u636e\u5206\u6790\u7684\u79d8\u5bc6"},"content":{"rendered":"


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14px;\">\u53d8\u5f02\u6ce8\u91ca\u7684\u4e3b\u8981\u76ee\u6807\u662f\u5c06\u57fa\u56e0\u7ec4\u4e2d\u7684\u53d8\u5f02\u4e0e\u5df2\u77e5\u7684\u751f\u7269\u5b66\u529f\u80fd\u76f8\u5173\u8054\u3002\u8fd9\u5305\u62ec\u786e\u5b9a\u4e00\u4e2a\u53d8\u5f02\u662f\u5426\u4f4d\u4e8e\u57fa\u56e0\u7684\u7f16\u7801\u533a\u57df\uff0c\u662f\u5426\u5f71\u54cd\u4e86\u86cb\u767d\u8d28\u5e8f\u5217\uff0c\u662f\u5426\u4e0e\u75be\u75c5\u76f8\u5173\u7b49\u3002\u901a\u8fc7\u6ce8\u91ca\u53d8\u5f02\uff0c\u7814\u7a76\u4eba\u5458\u53ef\u4ee5\u56de\u7b54\u4ee5\u4e0b\u5173\u952e\u95ee\u9898\uff1a<\/span><\/p>\n<ol class=\"list-paddingleft-1\">\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u529f\u80fd\u5f71\u54cd\uff1a\u53d8\u5f02\u662f\u5426\u4f1a\u5f71\u54cd\u57fa\u56e0\u7684\u529f\u80fd\uff1f\u5b83\u662f\u5426\u5bfc\u81f4\u4e86\u86cb\u767d\u8d28\u7ed3\u6784\u6216\u529f\u80fd\u7684\u6539\u53d8\uff1f<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 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14px;\">\u836f\u7269\u53cd\u5e94\uff1a\u5bf9\u4e8e\u836f\u7269\u7814\u7a76\uff0c\u53d8\u5f02\u6ce8\u91ca\u53ef\u4ee5\u5e2e\u52a9\u786e\u5b9a\u4e2a\u4f53\u5bf9\u836f\u7269\u7684\u53cd\u5e94\u662f\u5426\u53d7\u53d8\u5f02\u7684\u5f71\u54cd\u3002<\/span><\/p>\n<\/li>\n<\/ol>\n<p><span style=\"font-size: 14px;letter-spacing: 0.034em;\">VariantAnnotation\u5305\u5177\u6709\u8bb8\u591a\u529f\u80fd\u548c\u7279\u70b9\uff0c\u4f7f\u5176\u6210\u4e3a\u751f\u7269\u5b66\u6570\u636e\u5206\u6790\u4e2d\u4e0d\u53ef\u6216\u7f3a\u7684\u5de5\u5177\u4e4b\u4e00\u3002<\/span><br \/><\/p>\n<p><span style=\"font-size: 14px;\">\u652f\u6301\u591a\u79cd\u53d8\u5f02\u683c\u5f0f\uff1aVariantAnnotation\u652f\u6301\u5404\u79cd\u4e0d\u540c\u7684\u53d8\u5f02\u6587\u4ef6\u683c\u5f0f\uff0c\u5305\u62ecVCF\uff08Variant Call Format\uff09\u548cBED\uff08Browser Extensible Data\uff09\u7b49\u3002\u8fd9\u4f7f\u5f97\u5b83\u9002\u7528\u4e8e\u4e0d\u540c\u7684\u7814\u7a76\u9879\u76ee\u548c\u6570\u636e\u6765\u6e90\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u751f\u7269\u5b66\u7814\u7a76\u6d89\u53ca\u8bb8\u591a\u4e0d\u540c\u7684\u5b9e\u9a8c\u548c\u6280\u672f\uff0c\u6bcf\u79cd\u6280\u672f\u90fd\u53ef\u80fd\u4ea7\u751f\u4e0d\u540c\u7c7b\u578b\u7684\u57fa\u56e0\u7ec4\u53d8\u5f02\u6570\u636e\u3002\u8fd9\u4e9b\u6570\u636e\u53ef\u80fd\u5305\u62ec\u4e86\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\uff08SNP\uff09\u3001\u63d2\u5165\/\u5220\u9664\uff08Indel\uff09\u3001\u7ed3\u6784\u53d8\u5f02\u3001\u590d\u6742\u53d8\u5f02\u7b49\u3002\u4e3a\u4e86\u6709\u6548\u5730\u5b58\u50a8\u548c\u4f20\u8f93\u8fd9\u4e9b\u6570\u636e\uff0c\u751f\u7269\u4fe1\u606f\u5b66\u9886\u57df\u53d1\u5c55\u4e86\u591a\u79cd\u6570\u636e\u683c\u5f0f\u3002\u4f8b\u5982\uff0cVCF\uff08Variant Call Format\uff09\u662f\u4e00\u79cd\u5e38\u7528\u7684\u683c\u5f0f\uff0c\u7528\u4e8e\u63cf\u8ff0\u57fa\u56e0\u7ec4\u53d8\u5f02\u4fe1\u606f\uff0c\u800cBED\uff08Browser Extensible Data\uff09\u683c\u5f0f\u901a\u5e38\u7528\u4e8e\u8868\u793a\u57fa\u56e0\u7ec4\u533a\u57df\u7684\u6ce8\u91ca\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u7814\u7a76\u4eba\u5458\u53ef\u80fd\u9700\u8981\u4ece\u591a\u4e2a\u6765\u6e90\u83b7\u53d6\u57fa\u56e0\u7ec4\u53d8\u5f02\u6570\u636e\uff0c\u8fd9\u4e9b\u6570\u636e\u53ef\u80fd\u4ee5\u4e0d\u540c\u7684\u683c\u5f0f\u63d0\u4f9b\u3002\u4f8b\u5982\uff0c\u4e00\u4e2a\u9879\u76ee\u53ef\u80fd\u4f7f\u7528VCF\u683c\u5f0f\u5b58\u50a8\u5176\u53d8\u5f02\u6570\u636e\uff0c\u800c\u53e6\u4e00\u4e2a\u9879\u76ee\u53ef\u80fd\u4f7f\u7528BED\u683c\u5f0f\u3002\u56e0\u6b64\uff0c\u5bf9\u4e8e\u6570\u636e\u5206\u6790\u5de5\u5177\u6765\u8bf4\uff0c\u652f\u6301\u591a\u79cd\u53d8\u5f02\u683c\u5f0f\u662f\u81f3\u5173\u91cd\u8981\u7684\uff0c\u56e0\u4e3a\u5b83\u5141\u8bb8\u7814\u7a76\u4eba\u5458\u5728\u4e0d\u540c\u60c5\u5883\u4e0b\u4f7f\u7528\u76f8\u540c\u7684\u5de5\u5177\uff0c\u800c\u4e0d\u5fc5\u62c5\u5fc3\u6570\u636e\u683c\u5f0f\u7684\u8f6c\u6362\u548c\u517c\u5bb9\u6027\u95ee\u9898\u3002<\/span><\/p>\n<ul class=\"list-paddingleft-1\">\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">VCF\uff08Variant Call Format\uff09\uff1aVCF\u662f\u4e00\u79cd\u5e7f\u6cdb\u4f7f\u7528\u7684\u6807\u51c6\u683c\u5f0f\uff0c\u7528\u4e8e\u5b58\u50a8\u57fa\u56e0\u7ec4\u53d8\u5f02\u4fe1\u606f\u3002\u5b83\u5305\u62ec\u4e86\u53d8\u5f02\u7684\u4f4d\u7f6e\u3001\u7c7b\u578b\u3001\u53c2\u8003\u548c\u5907\u7528\u7b49\u7b49\u4fe1\u606f\u3002VariantAnnotation\u80fd\u591f\u8f7b\u677e\u52a0\u8f7d\u548c\u89e3\u6790VCF\u6587\u4ef6\uff0c\u5e76\u63d0\u4f9b\u4e30\u5bcc\u7684\u6ce8\u91ca\u548c\u5206\u6790\u529f\u80fd\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">BED\uff08Browser Extensible Data\uff09\uff1aBED\u683c\u5f0f\u901a\u5e38\u7528\u4e8e\u8868\u793a\u57fa\u56e0\u7ec4\u4e0a\u7684\u533a\u57df\u6ce8\u91ca\u4fe1\u606f\uff0c\u4f8b\u5982\u57fa\u56e0\u7684\u5916\u663e\u5b50\u3001\u8d77\u59cb\u5b50\u3001\u7ec8\u6b62\u5b50\u7b49\u3002VariantAnnotation\u652f\u6301\u89e3\u6790BED\u6587\u4ef6\uff0c\u5e76\u4e0e\u53d8\u5f02\u6570\u636e\u5173\u8054\uff0c\u4ee5\u63d0\u4f9b\u66f4\u591a\u7684\u6ce8\u91ca\u4fe1\u606f\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">GFF\uff08General Feature Format\uff09\uff1aGFF\u662f\u53e6\u4e00\u79cd\u7528\u4e8e\u63cf\u8ff0\u57fa\u56e0\u7ec4\u7279\u5f81\u7684\u901a\u7528\u683c\u5f0f\u3002VariantAnnotation\u53ef\u4ee5\u52a0\u8f7d\u548c\u89e3\u6790GFF\u6587\u4ef6\uff0c\u4ece\u800c\u4e3a\u57fa\u56e0\u7ec4\u53d8\u5f02\u63d0\u4f9b\u66f4\u8be6\u7ec6\u7684\u529f\u80fd\u6ce8\u91ca\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u5176\u4ed6\u81ea\u5b9a\u4e49\u683c\u5f0f\uff1a\u9664\u4e86\u6807\u51c6\u683c\u5f0f\u4e4b\u5916\uff0c\u7814\u7a76\u4eba\u5458\u6709\u65f6\u4f1a\u4f7f\u7528\u81ea\u5b9a\u4e49\u7684\u6570\u636e\u683c\u5f0f\u6765\u5b58\u50a8\u53d8\u5f02\u4fe1\u606f\u3002VariantAnnotation\u7684\u7075\u6d3b\u6027\u5141\u8bb8\u7528\u6237\u5b9a\u4e49\u548c\u89e3\u6790\u81ea\u5df1\u7684\u6570\u636e\u683c\u5f0f\uff0c\u4ece\u800c\u6ee1\u8db3\u7279\u5b9a\u9879\u76ee\u7684\u9700\u6c42\u3002<\/span><\/p>\n<\/li>\n<\/ul>\n<p><span style=\"font-size: 14px;letter-spacing: 0.034em;\">\u652f\u6301\u8fd9\u4e9b\u591a\u79cd\u53d8\u5f02\u683c\u5f0f\u4f7f\u5f97VariantAnnotation\u5305\u6210\u4e3a\u4e00\u4e2a\u5f3a\u5927\u7684\u5de5\u5177\uff0c\u9002\u7528\u4e8e\u5404\u79cd\u751f\u7269\u5b66\u7814\u7a76\u9879\u76ee\u3002<\/span><span style=\"font-size: 14px;letter-spacing: 0.034em;\">\u7814\u7a76\u4eba\u5458\u53ef\u4ee5\u6839\u636e\u81ea\u5df1\u7684\u6570\u636e\u6765\u6e90\u548c\u5b9e\u9a8c\u8bbe\u8ba1\uff0c\u8f7b\u677e\u5730\u5bfc\u5165\u3001\u5206\u6790\u548c\u6ce8\u91ca\u53d8\u5f02\u6570\u636e\uff0c\u800c\u65e0\u9700\u62c5\u5fc3\u683c\u5f0f\u8f6c\u6362\u548c\u6570\u636e\u517c\u5bb9\u6027\u95ee\u9898\u3002<\/span><br \/><\/p>\n<p><span style=\"font-size: 14px;\">\u53d8\u5f02\u8fc7\u6ee4\u548c\u9009\u62e9\uff1a\u5305\u62ec\u4e86\u529f\u80fd\u5f3a\u5927\u7684\u8fc7\u6ee4\u548c\u9009\u62e9\u51fd\u6570\uff0c\u5e2e\u52a9\u7528\u6237\u6839\u636e\u5404\u79cd\u6807\u51c6\u7b5b\u9009\u548c\u9009\u62e9\u611f\u5174\u8da3\u7684\u53d8\u5f02\u3002\u8fd9\u6709\u52a9\u4e8e\u5c06\u6570\u636e\u96c6\u7cbe\u7b80\u5230\u6700\u76f8\u5173\u7684\u53d8\u5f02\u3002<\/span><\/p>\n<p><span style=\"letter-spacing: 0.034em;font-size: 14px;\">\u53d8\u5f02\u8fc7\u6ee4\u548c\u9009\u62e9\u5728\u57fa\u56e0\u7ec4\u5b66\u548c\u751f\u7269\u4fe1\u606f\u5b66\u7814\u7a76\u4e2d\u626e\u6f14\u7740\u81f3\u5173\u91cd\u8981\u7684\u89d2\u8272\u3002\u57fa\u56e0\u7ec4\u6570\u636e\u901a\u5e38\u975e\u5e38\u5e9e\u5927\uff0c\u5305\u542b\u5927\u91cf\u7684\u53d8\u5f02\uff0c\u5176\u4e2d\u53ea\u6709\u4e00\u5c0f\u90e8\u5206\u53ef\u80fd\u4e0e\u7814\u7a76\u95ee\u9898\u6216\u751f\u7269\u5b66\u73b0\u8c61\u76f8\u5173\u3002VariantAnnotation\u5305\u63d0\u4f9b\u4e86\u5f3a\u5927\u7684\u8fc7\u6ee4\u548c\u9009\u62e9\u51fd\u6570\uff0c\u4f7f\u7814\u7a76\u4eba\u5458\u80fd\u591f\u4ece\u6d77\u91cf\u7684\u53d8\u5f02\u4e2d\u7cbe\u9009\u51fa\u6700\u76f8\u5173\u7684\uff0c\u4ece\u800c\u66f4\u4e13\u6ce8\u4e8e\u611f\u5174\u8da3\u7684\u53d8\u5f02\u548c\u751f\u7269\u5b66\u95ee\u9898\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u5728\u5927\u89c4\u6a21\u57fa\u56e0\u7ec4\u7814\u7a76\u4e2d\uff0c\u901a\u5e38\u4f1a\u9047\u5230\u6210\u5343\u4e0a\u4e07\u4e2a\u53d8\u5f02\uff0c\u8fd9\u4e9b\u53d8\u5f02\u6765\u81ea\u4e8e\u4e0d\u540c\u4e2a\u4f53\u3001\u4e0d\u540c\u751f\u7269\u4f53\u7cfb\u6216\u4e0d\u540c\u5b9e\u9a8c\u6761\u4ef6\u3002\u7136\u800c\uff0c\u4e0d\u662f\u6240\u6709\u7684\u53d8\u5f02\u90fd\u5bf9\u7814\u7a76\u95ee\u9898\u6216\u751f\u7269\u5b66\u73b0\u8c61\u5177\u6709\u91cd\u8981\u610f\u4e49\u3002\u4e3a\u4e86\u66f4\u597d\u5730\u7406\u89e3\u7279\u5b9a\u7684\u751f\u7269\u5b66\u8fc7\u7a0b\u3001\u75be\u75c5\u673a\u5236\u6216\u57fa\u56e0\u529f\u80fd\uff0c\u7814\u7a76\u4eba\u5458\u9700\u8981\u5c06\u6ce8\u610f\u529b\u96c6\u4e2d\u5728\u4e0e\u5176\u5173\u6ce8\u7684\u95ee\u9898\u76f8\u5173\u7684\u53d8\u5f02\u4e0a\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u53d8\u5f02\u8fc7\u6ee4\u7684\u4e3b\u8981\u76ee\u6807\u662f\u5c06\u6570\u636e\u96c6\u4e2d\u7cbe\u7b80\u5230\u6700\u76f8\u5173\u7684\u53d8\u5f02\uff0c\u540c\u65f6\u8fc7\u6ee4\u6389\u4e0d\u76f8\u5173\u6216\u65e0\u610f\u4e49\u7684\u53d8\u5f02\u3002\u8fd9\u4e0d\u4ec5\u6709\u52a9\u4e8e\u51cf\u5c11\u6570\u636e\u5206\u6790\u7684\u590d\u6742\u6027\uff0c\u8fd8\u63d0\u9ad8\u4e86\u53d1\u73b0\u751f\u7269\u5b66\u6d1e\u89c1\u7684\u6982\u7387\u3002\u53d8\u5f02\u8fc7\u6ee4\u901a\u5e38\u57fa\u4e8e\u4ee5\u4e0b\u51e0\u79cd\u6807\u51c6\uff1a<\/span><\/p>\n<ul class=\"list-paddingleft-1\">\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u529f\u80fd\u5f71\u54cd\uff1a\u7b5b\u9009\u5177\u6709\u6f5c\u5728\u529f\u80fd\u5f71\u54cd\u7684\u53d8\u5f02\uff0c\u4f8b\u5982\u975e\u540c\u4e49\u7a81\u53d8\u3001\u9519\u4e49\u7a81\u53d8\u6216\u65e0\u4e49\u7a81\u53d8\uff0c\u4ee5\u53ca\u4f4d\u4e8e\u7f16\u7801\u533a\u57df\u6216\u8c03\u63a7\u5143\u4ef6\u7684\u53d8\u5f02\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u9891\u7387\uff1a\u7b5b\u9009\u5177\u6709\u8db3\u591f\u9ad8\u9891\u7387\u7684\u53d8\u5f02\uff0c\u8fd9\u4e9b\u53d8\u5f02\u5728\u7814\u7a76\u4eba\u7fa4\u4e2d\u5177\u6709\u4e00\u5b9a\u7684\u666e\u904d\u6027\uff0c\u56e0\u6b64\u66f4\u6709\u53ef\u80fd\u4e0e\u751f\u7269\u5b66\u73b0\u8c61\u76f8\u5173\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u81f4\u75c5\u6027\u9884\u6d4b\uff1a\u4f7f\u7528\u751f\u7269\u4fe1\u606f\u5b66\u5de5\u5177\u5bf9\u53d8\u5f02\u8fdb\u884c\u81f4\u75c5\u6027\u9884\u6d4b\uff0c\u4ee5\u786e\u5b9a\u662f\u5426\u5b58\u5728\u53ef\u80fd\u5bfc\u81f4\u75be\u75c5\u6216\u751f\u7269\u5b66\u5f71\u54cd\u7684\u53d8\u5f02\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u529f\u80fd\u901a\u8def\uff1a\u5c06\u53d8\u5f02\u4e0e\u5df2\u77e5\u7684\u751f\u7269\u5b66\u901a\u8def\u6216\u9014\u5f84\u76f8\u5173\u8054\uff0c\u4ee5\u4fbf\u66f4\u597d\u5730\u7406\u89e3\u5176\u5728\u751f\u7269\u5b66\u4e0a\u7684\u4f5c\u7528\u3002<\/span><\/p>\n<\/li>\n<\/ul>\n<p><span style=\"letter-spacing: 0.034em;font-size: 14px;\">VariantAnnotation\u5305\u5305\u542b\u4e86\u4e00\u7cfb\u5217\u529f\u80fd\u5f3a\u5927\u7684\u8fc7\u6ee4\u548c\u9009\u62e9\u51fd\u6570\uff0c\u53ef\u5e2e\u52a9\u7528\u6237\u7cbe\u9009\u611f\u5174\u8da3\u7684\u53d8\u5f02\u3002\u4ee5\u4e0b\u662f\u4e00\u4e9b\u5e38\u89c1\u7684\u8fc7\u6ee4\u548c\u9009\u62e9\u529f\u80fd\uff1a<\/span><\/p>\n<ul class=\"list-paddingleft-1\">\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">filterVariants\u51fd\u6570\uff1a\u8be5\u51fd\u6570\u5141\u8bb8\u7528\u6237\u6839\u636e\u4e00\u7cfb\u5217\u6761\u4ef6\u6765\u8fc7\u6ee4\u53d8\u5f02\u3002\u8fd9\u4e9b\u6761\u4ef6\u53ef\u4ee5\u5305\u62ec\u4e86\u53d8\u5f02\u7684\u529f\u80fd\u3001\u9891\u7387\u3001\u81f4\u75c5\u6027\u9884\u6d4b\u5206\u6570\u7b49\u3002\u901a\u8fc7\u4f7f\u7528\u8be5\u51fd\u6570\uff0c\u7814\u7a76\u4eba\u5458\u53ef\u4ee5\u5feb\u901f\u7b5b\u9009\u51fa\u7b26\u5408\u7814\u7a76\u76ee\u6807\u7684\u53d8\u5f02\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">selectVariants\u51fd\u6570\uff1a\u4e0efilterVariants\u51fd\u6570\u4e0d\u540c\uff0cselectVariants\u51fd\u6570\u5141\u8bb8\u7528\u6237\u9009\u62e9\u7279\u5b9a\u7684\u53d8\u5f02\u5b50\u96c6\uff0c\u800c\u4e0d\u662f\u6392\u9664\u4e0d\u76f8\u5173\u7684\u53d8\u5f02\u3002\u8fd9\u53ef\u4ee5\u5e2e\u52a9\u7814\u7a76\u4eba\u5458\u805a\u7126\u4e8e\u4ed6\u4eec\u611f\u5174\u8da3\u7684\u53d8\u5f02\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u81ea\u5b9a\u4e49\u6761\u4ef6\uff1aVariantAnnotation\u8fd8\u5141\u8bb8\u7528\u6237\u81ea\u5b9a\u4e49\u6761\u4ef6\uff0c\u4ee5\u6839\u636e\u7279\u5b9a\u7814\u7a76\u95ee\u9898\u6216\u751f\u7269\u5b66\u5047\u8bbe\u6765\u8fc7\u6ee4\u6216\u9009\u62e9\u53d8\u5f02\u3002\u8fd9\u79cd\u7075\u6d3b\u6027\u4f7f\u7814\u7a76\u4eba\u5458\u80fd\u591f\u66f4\u597d\u5730\u9002\u5e94\u4e0d\u540c\u7684\u5206\u6790\u9700\u6c42\u3002<\/span><\/p>\n<\/li>\n<\/ul>\n<p><span style=\"font-size: 14px;\">\u901a\u8fc7\u4f7f\u7528\u8fd9\u4e9b\u529f\u80fd\uff0c\u7814\u7a76\u4eba\u5458\u53ef\u4ee5\u6709\u6548\u5730\u7f29\u5c0f\u4ed6\u4eec\u7684\u6570\u636e\u96c6\uff0c\u4ece\u800c\u66f4\u4e13\u6ce8\u4e8e\u6df1\u5165\u7814\u7a76\u4e0e\u4ed6\u4eec\u611f\u5174\u8da3\u7684\u751f\u7269\u5b66\u95ee\u9898\u76f8\u5173\u7684\u53d8\u5f02\u3002\u8fd9\u4e0d\u4ec5\u63d0\u9ad8\u4e86\u7814\u7a76\u6548\u7387\uff0c\u8fd8\u6709\u52a9\u4e8e\u66f4\u597d\u5730\u7406\u89e3\u57fa\u56e0\u7ec4\u53d8\u5f02\u5728\u751f\u7269\u5b66\u8fc7\u7a0b\u548c\u75be\u75c5\u53d1\u75c5\u673a\u5236\u4e2d\u7684\u4f5c\u7528\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u53d8\u5f02\u6ce8\u91ca\uff1aVariantAnnotation\u63d0\u4f9b\u4e86\u5e7f\u6cdb\u7684\u53d8\u5f02\u6ce8\u91ca\u529f\u80fd\uff0c\u5305\u62ec\u4e86\u57fa\u56e0\u7ec4\u5750\u6807\u3001\u529f\u80fd\u7c7b\u522b\u3001\u5f71\u54cd\u7c7b\u578b\u3001\u7a81\u53d8\u7684\u78b1\u57fa\u3001\u6c28\u57fa\u9178\u53d8\u5316\u7b49\u8be6\u7ec6\u4fe1\u606f\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;letter-spacing: 0.034em;\">\u53d8\u5f02\u6ce8\u91ca\u5728\u57fa\u56e0\u7ec4\u5b66\u548c\u751f\u7269\u4fe1\u606f\u5b66\u7814\u7a76\u4e2d\u626e\u6f14\u7740\u81f3\u5173\u91cd\u8981\u7684\u89d2\u8272\uff0c\u5b83\u6709\u52a9\u4e8e\u7814\u7a76\u4eba\u5458\u66f4\u6df1\u5165\u5730\u7406\u89e3\u57fa\u56e0\u7ec4\u4e2d\u7684\u53d8\u5f02\uff0c\u5e76\u63ed\u793a\u8fd9\u4e9b\u53d8\u5f02\u53ef\u80fd\u5bf9\u751f\u7269\u5b66\u529f\u80fd\u3001\u75be\u75c5\u53d1\u75c5\u673a\u5236\u4ee5\u53ca\u4e2a\u4f53\u9057\u4f20\u7279\u6027\u4ea7\u751f\u7684\u5f71\u54cd\u3002VariantAnnotation\u5305\u63d0\u4f9b\u4e86\u4e30\u5bcc\u7684\u53d8\u5f02\u6ce8\u91ca\u529f\u80fd\uff0c\u4f7f\u7814\u7a76\u4eba\u5458\u80fd\u591f\u83b7\u5f97\u8be6\u7ec6\u7684\u53d8\u5f02\u4fe1\u606f\uff0c\u4ece\u800c\u66f4\u597d\u5730\u7406\u89e3\u5176\u751f\u7269\u5b66\u610f\u4e49\u3002<br \/><\/span><\/p>\n<p><span style=\"letter-spacing: 0.034em;font-size: 14px;\">\u53d8\u5f02\u6ce8\u91ca\u662f\u5c06\u57fa\u56e0\u7ec4\u4e2d\u7684\u53d8\u5f02\u4e0e\u5df2\u77e5\u7684\u751f\u7269\u5b66\u529f\u80fd\u76f8\u5173\u8054\u7684\u8fc7\u7a0b\u3002VariantAnnotation\u5305\u901a\u8fc7\u63d0\u4f9b\u5e7f\u6cdb\u7684\u53d8\u5f02\u6ce8\u91ca\u529f\u80fd\u6765\u6ee1\u8db3\u7814\u7a76\u4eba\u5458\u7684\u9700\u6c42\u3002\u4ee5\u4e0b\u662f\u4e00\u4e9bVariantAnnotation\u5305\u63d0\u4f9b\u7684\u6ce8\u91ca\u4fe1\u606f\uff1a<\/span><\/p>\n<ul class=\"list-paddingleft-1\">\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u57fa\u56e0\u7ec4\u5750\u6807\uff1aVariantAnnotation\u80fd\u591f\u63d0\u4f9b\u53d8\u5f02\u7684\u786e\u5207\u4f4d\u7f6e\uff0c\u5305\u62ec\u67d3\u8272\u4f53\u3001\u8d77\u59cb\u4f4d\u7f6e\u548c\u7ec8\u6b62\u4f4d\u7f6e\u3002\u8fd9\u6709\u52a9\u4e8e\u7814\u7a76\u4eba\u5458\u51c6\u786e\u5b9a\u4f4d\u53d8\u5f02\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u529f\u80fd\u7c7b\u522b\uff1aVariantAnnotation\u53ef\u4ee5\u544a\u8bc9\u60a8\u53d8\u5f02\u7684\u529f\u80fd\u7c7b\u522b\uff0c\u4f8b\u5982\u662f\u5426\u5728\u7f16\u7801\u533a\u57df\u3001\u662f\u5426\u5728\u5916\u663e\u5b50\u3001\u5185\u542b\u5b50\u3001\u4e0a\u6e38\u6216\u4e0b\u6e38\u7b49\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u5f71\u54cd\u7c7b\u578b\uff1a\u8be5\u5305\u63d0\u4f9b\u4e86\u5173\u4e8e\u53d8\u5f02\u5982\u4f55\u5f71\u54cd\u57fa\u56e0\u6216\u86cb\u767d\u8d28\u7684\u8be6\u7ec6\u4fe1\u606f\uff0c\u5305\u62ec\u4e86\u975e\u540c\u4e49\u7a81\u53d8\uff08\u4e0d\u6539\u53d8\u6c28\u57fa\u9178\uff09\u3001\u9519\u4e49\u7a81\u53d8\uff08\u6539\u53d8\u6c28\u57fa\u9178\uff09\u3001\u65e0\u4e49\u7a81\u53d8\uff08\u5f15\u5165\u7ec8\u6b62\u5bc6\u7801\u5b50\uff09\u7b49\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u7a81\u53d8\u7684\u78b1\u57fa\uff1aVariantAnnotation\u5305\u542b\u4e86\u53d8\u5f02\u7684\u78b1\u57fa\u4fe1\u606f\uff0c\u5305\u62ec\u4e86\u53c2\u8003\u78b1\u57fa\u548c\u5907\u7528\u78b1\u57fa\uff0c\u6709\u52a9\u4e8e\u786e\u5b9a\u78b1\u57fa\u7684\u66ff\u4ee3\u60c5\u51b5\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u6c28\u57fa\u9178\u53d8\u5316\uff1a\u5bf9\u4e8e\u5f71\u54cd\u86cb\u767d\u8d28\u7f16\u7801\u57fa\u56e0\u7684\u53d8\u5f02\uff0c\u8be5\u5305\u63d0\u4f9b\u4e86\u6c28\u57fa\u9178\u5e8f\u5217\u7684\u53d8\u5316\uff0c\u5e2e\u52a9\u7814\u7a76\u4eba\u5458\u4e86\u89e3\u86cb\u767d\u8d28\u7ed3\u6784\u548c\u529f\u80fd\u7684\u6539\u53d8\u3002<\/span><\/p>\n<\/li>\n<\/ul>\n<p><span style=\"letter-spacing: 0.034em;font-size: 14px;\">\u9664\u4e86\u4e0a\u8ff0\u4fe1\u606f\u4e4b\u5916\uff0cVariantAnnotation\u8fd8\u652f\u6301\u5176\u4ed6\u76f8\u5173\u6ce8\u91ca\uff0c\u5982\u53d8\u5f02\u7684\u9891\u7387\u4fe1\u606f\u3001\u79cd\u7fa4\u5206\u5e03\u3001\u529f\u80fd\u901a\u8def\u5173\u8054\u7b49\u3002\u8fd9\u4e9b\u8be6\u7ec6\u7684\u6ce8\u91ca\u4fe1\u606f\u53ef\u4ee5\u5e2e\u52a9\u7814\u7a76\u4eba\u5458\u66f4\u597d\u5730\u7406\u89e3\u57fa\u56e0\u7ec4\u53d8\u5f02\u7684\u751f\u7269\u5b66\u542b\u4e49\uff0c\u5e76\u5c06\u5176\u4e0e\u75be\u75c5\u3001\u9057\u4f20\u7279\u6027\u6216\u5176\u4ed6\u751f\u7269\u5b66\u95ee\u9898\u76f8\u5173\u8054\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u53ef\u89c6\u5316\u5de5\u5177\uff1aVariantAnnotation\u4e0e\u5176\u4ed6\u53ef\u89c6\u5316\u5305\uff08\u5982ggplot2\uff09\u517c\u5bb9\uff0c\u53ef\u4ee5\u7528\u4e8e\u521b\u5efa\u6f02\u4eae\u7684\u53d8\u5f02\u6ce8\u91ca\u53ef\u89c6\u5316\u56fe\u8868\u3002<\/span><\/p>\n<p><span style=\"letter-spacing: 0.034em;font-size: 14px;\">\u53ef\u89c6\u5316\u662f\u5c06\u6570\u636e\u8f6c\u5316\u4e3a\u53ef\u7406\u89e3\u3001\u6613\u4e8e\u4f20\u8fbe\u7684\u5f62\u5f0f\u7684\u5173\u952e\u65b9\u5f0f\u3002\u5728\u57fa\u56e0\u7ec4\u5b66\u548c\u751f\u7269\u4fe1\u606f\u5b66\u4e2d\uff0c\u5927\u89c4\u6a21\u7684\u53d8\u5f02\u6570\u636e\u96c6\u548c\u590d\u6742\u7684\u6ce8\u91ca\u4fe1\u606f\u9700\u8981\u4ee5\u53ef\u89c6\u5316\u7684\u65b9\u5f0f\u5448\u73b0\uff0c\u4ee5\u4fbf\u7814\u7a76\u4eba\u5458\u53ef\u4ee5\u66f4\u5bb9\u6613\u5730\u8bc6\u522b\u6a21\u5f0f\u3001\u8d8b\u52bf\u548c\u5173\u8054\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u53ef\u89c6\u5316\u6709\u52a9\u4e8e\u89e3\u91ca\u548c\u4f20\u8fbe\u7814\u7a76\u53d1\u73b0\uff0c\u4fc3\u8fdb\u4e86\u6570\u636e\u7684\u5171\u4eab\u548c\u5408\u4f5c\u3002\u5b83\u8fd8\u53ef\u4ee5\u5e2e\u52a9\u7814\u7a76\u4eba\u5458\u4ece\u6570\u636e\u4e2d\u63d0\u53d6\u65b0\u7684\u6d1e\u89c1\uff0c\u5e76\u63d0\u4f9b\u51b3\u7b56\u652f\u6301\uff0c\u4f8b\u5982\u5728\u4e2a\u6027\u5316\u533b\u7597\u4e2d\u9009\u62e9\u6700\u4f73\u6cbb\u7597\u65b9\u6cd5\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">VariantAnnotation\u5305\u7684\u5f3a\u5927\u4e4b\u5904\u5728\u4e8e\u5b83\u4e0e\u5176\u4ed6\u6d41\u884c\u7684\u53ef\u89c6\u5316\u5305\uff08\u5982ggplot2\uff09\u517c\u5bb9\u3002\u8fd9\u610f\u5473\u7740\u7814\u7a76\u4eba\u5458\u53ef\u4ee5\u4f7f\u7528ggplot2\u7684\u529f\u80fd\u6765\u521b\u5efa\u5404\u79cd\u6f02\u4eae\u7684\u53d8\u5f02\u6ce8\u91ca\u53ef\u89c6\u5316\u56fe\u8868\uff0c\u4ee5\u5c55\u793a\u5176\u6570\u636e\u7684\u5173\u952e\u4fe1\u606f\u3002<\/span><\/p>\n<ul class=\"list-paddingleft-1\">\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u57fa\u56e0\u7ec4\u5750\u6807\u56fe\uff1a\u663e\u793a\u53d8\u5f02\u5728\u67d3\u8272\u4f53\u4e0a\u7684\u4f4d\u7f6e\u5206\u5e03\uff0c\u5e2e\u52a9\u8bc6\u522b\u67d0\u4e00\u533a\u57df\u7684\u53d8\u5f02\u5bc6\u96c6\u6027\u6216\u70ed\u70b9\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u529f\u80fd\u7c7b\u522b\u56fe\uff1a\u5c55\u793a\u4e0d\u540c\u529f\u80fd\u7c7b\u522b\u7684\u53d8\u5f02\u5206\u5e03\uff0c\u5982\u7f16\u7801\u533a\u57df\u3001\u975e\u7f16\u7801\u533a\u57df\u3001\u5916\u663e\u5b50\u3001\u5185\u542b\u5b50\u7b49\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u81f4\u75c5\u6027\u9884\u6d4b\u56fe\uff1a\u53ef\u89c6\u5316\u53d8\u5f02\u7684\u81f4\u75c5\u6027\u9884\u6d4b\u5206\u6570\uff0c\u5e2e\u52a9\u786e\u5b9a\u54ea\u4e9b\u53d8\u5f02\u53ef\u80fd\u5bf9\u75be\u75c5\u6216\u529f\u80fd\u4ea7\u751f\u5f71\u54cd\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u6c28\u57fa\u9178\u53d8\u5316\u56fe\uff1a\u5bf9\u4e8e\u5f71\u54cd\u86cb\u767d\u8d28\u7684\u53d8\u5f02\uff0c\u53ef\u89c6\u5316\u6c28\u57fa\u9178\u5e8f\u5217\u7684\u53d8\u5316\uff0c\u4ee5\u4e86\u89e3\u86cb\u767d\u8d28\u7ed3\u6784\u548c\u529f\u80fd\u7684\u6539\u53d8\u3002<\/span><\/p>\n<\/li>\n<li style=\"font-size: 14px;\">\n<p><span style=\"font-size: 14px;\">\u9891\u7387\u5206\u5e03\u56fe\uff1a\u5c55\u793a\u53d8\u5f02\u7684\u9891\u7387\u5206\u5e03\uff0c\u6709\u52a9\u4e8e\u786e\u5b9a\u53d8\u5f02\u7684\u666e\u904d\u6027\u3002<\/span><\/p>\n<\/li>\n<\/ul>\n<p><span style=\"font-size: 14px;letter-spacing: 0.034em;\"><br \/><\/span><\/p>\n<p><span style=\"font-size: 14px;letter-spacing: 0.034em;\">\u8fd9\u4e9b\u53ef\u89c6<\/span><span style=\"font-size: 14px;letter-spacing: 0.034em;\">\u5316\u56fe\u8868\u53ef\u4ee5\u901a\u8fc7\u7cbe\u7f8e\u7684\u56fe\u5f62\u548c\u56fe\u8868\u6837\u5f0f\u589e\u5f3a\uff0c\u4f7f\u7814\u7a76\u7ed3\u679c\u66f4\u5177\u5438\u5f15\u529b\u548c\u4fe1\u606f\u91cf\u3002<\/span><span style=\"font-size: 14px;letter-spacing: 0.034em;\">\u7814\u7a76\u4eba\u5458\u8fd8\u53ef\u4ee5\u6839\u636e\u9700\u8981\u8fdb\u884c\u81ea\u5b9a\u4e49\uff0c\u4ee5\u6ee1\u8db3\u5176\u7814\u7a76\u95ee\u9898\u548c\u76ee\u6807\u7684\u9700\u6c42\u3002<\/span><br \/><\/p>\n<p><span style=\"font-size: 14px;letter-spacing: 0.034em;\"><em style=\"letter-spacing: 0.578px;white-space: normal;color: rgb(178, 178, 178);\"><span style=\"font-family: "Helvetica Neue", Helvetica, "Hiragino Sans GB", "Microsoft YaHei", Arial, sans-serif;font-size: 14px;letter-spacing: 0.476px;text-decoration: underline;\">\u516c\u4f17\u53f7\u540e\u53f0\u56de\u590d\u201c111\u201d\u9886\u53d6\u4ee3\u7801\uff0c\u4ee3\u7801\u7f16\u53f7\uff1a231022<\/span><\/em><\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u793a\u4f8b\uff1a<\/span><\/p>\n<section class=\"code-snippet__fix code-snippet__js\">\n<ul class=\"code-snippet__line-index code-snippet__js\">\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<\/ul>\n<pre class=\"code-snippet__js\" data-lang=\"shell\"><code><span class=\"code-snippet_outer\"># \u5b89\u88c5VariantAnnotation\u5305<\/span><\/code><code><span class=\"code-snippet_outer\">> if (!requireNamespace(\"BiocManager\", quietly = TRUE))<\/span><\/code><code><span class=\"code-snippet_outer\">+ install.packages(\"BiocManager\")<\/span><\/code><code><span class=\"code-snippet_outer\">> BiocManager::install(\"VariantAnnotation\")<\/span><\/code><code><span class=\"code-snippet_outer\"><br \/><\/span><\/code><code><span class=\"code-snippet_outer\"><br \/><\/span><\/code><code><span class=\"code-snippet_outer\"># \u52a0\u8f7d\u5fc5\u8981\u7684\u5305<\/span><\/code><code><span class=\"code-snippet_outer\">> library(VariantAnnotation)<\/span><\/code><code><span class=\"code-snippet_outer\">> library(ggplot2)<\/span><\/code><code><span class=\"code-snippet_outer\"><br \/><\/span><\/code><code><span class=\"code-snippet_outer\"><br \/><\/span><\/code><code><span class=\"code-snippet_outer\"># \u4eceVariantAnnotation\u5305\u4e2d\u52a0\u8f7d\u793a\u4f8bVCF\u6587\u4ef6<\/span><\/code><code><span class=\"code-snippet_outer\"># \u6ce8\u610f\uff1a\u8fd9\u662f\u4e00\u4e2a\u975e\u5e38\u5c0f\u7684\u793a\u4f8b\u6587\u4ef6\uff0c\u4ec5\u7528\u4e8e\u6f14\u793a\u76ee\u7684<\/span><\/code><code><span class=\"code-snippet_outer\">> vcf_file <- system.file(\"extdata\", \"chr22.vcf.gz\", package = \"VariantAnnotation\")<\/span><\/code><code><span class=\"code-snippet_outer\">> vcf <- readVcf(vcf_file, \"hg19\")<\/span><\/code><code><span class=\"code-snippet_outer\"><br \/><\/span><\/code><code><span class=\"code-snippet_outer\"><br \/><\/span><\/code><code><span class=\"code-snippet_outer\"># \u5bf9VCF\u6587\u4ef6\u8fdb\u884c\u6ce8\u91ca<\/span><\/code><code><span class=\"code-snippet_outer\"># \u8fd9\u5c06\u6dfb\u52a0\u529f\u80fd\u3001\u81f4\u75c5\u6027\u9884\u6d4b\u7b49\u4fe1\u606f\u5230\u53d8\u5f02\u6570\u636e<\/span><\/code><code><span class=\"code-snippet_outer\">> vcf <- annotateVariants(vcf)<\/span><\/code><code><span class=\"code-snippet_outer\"><br \/><\/span><\/code><code><span class=\"code-snippet_outer\"><br \/><\/span><\/code><code><span class=\"code-snippet_outer\"># \u521b\u5efa\u57fa\u56e0\u7ec4\u5750\u6807\u56fe<\/span><\/code><code><span class=\"code-snippet_outer\">> p1 <- ggplot() +<\/span><\/code><code><span class=\"code-snippet_outer\">geom_point(data = as.data.frame(vcf), aes(x = POS, y = -log10(INFO(REFFREQ))), size = 1) +<\/span><\/code><code><span class=\"code-snippet_outer\">labs(x = \"Genomic Position\", y = \"-log10(Reference Allele Frequency)\") +<\/span><\/code><code><span class=\"code-snippet_outer\">theme_minimal()<\/span><\/code><\/pre>\n<\/section>\n<p><img decoding=\"async\" class=\"rich_pages wxw-img\" data-ratio=\"0.5\" src=\"https:\/\/i0.wp.com\/www.biocloudservice.com\/wordpress\/wp-content\/uploads\/2024\/06\/2_83tWjwDPicF2iafxHy1t2dnowwCYcg.png?w=640\" onerror=\"this.src='https:\/\/mmbiz.qpic.cn\/sz_mmbiz_png\/zcicibWZessAxITbWibFrR6nRVnutEeqghH7Wyzib069EDyoWNlGVMZQoichAxn83tWjwDPicF2iafxHy1t2dnowwCYcg\/640?wx_fmt=png'\" data-type=\"png\" data-w=\"1080\" data-recalc-dims=\"1\" \/><\/p>\n<section class=\"code-snippet__fix code-snippet__js\">\n<ul class=\"code-snippet__line-index code-snippet__js\">\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<\/ul>\n<pre class=\"code-snippet__js\" data-lang=\"xml\"><code><span class=\"code-snippet_outer\"># \u521b\u5efa\u529f\u80fd\u7c7b\u522b<\/span><\/code><code><span class=\"code-snippet_outer\">> p2 <- ggplot() +<\/span><\/code><code><span class=\"code-snippet_outer\">geom_bar(data = as.data.frame(vcf), aes(x = FUNCANN), fill = \"skyblue\") +<\/span><\/code><code><span class=\"code-snippet_outer\">labs(x = \"Functional Category\", y = \"Count\") +<\/span><\/code><code><span class=\"code-snippet_outer\">theme_minimal() +<\/span><\/code><code><span class=\"code-snippet_outer\">theme(axis.text.x = element_text(angle = 45, hjust = 1))<\/span><\/code><\/pre>\n<\/section>\n<p><img decoding=\"async\" class=\"rich_pages wxw-img\" data-ratio=\"1.0032051282051282\" src=\"\u56fe\u7247\/\u751f\u4fe1\u679c_2023-11-02_\u5c0f\u679c\u5e26\u4f60\u4e00\u8d77\u89e3\u9501\u57fa\u56e0\u7ec4\u53d8\u5f02\u6570\u636e\u5206\u6790\u7684\u79d8\u5bc6\/3_Y9dH7ichRrTKnEsqdXUG7j7uswUABA.jpg\" onerror=\"this.src='https:\/\/mmbiz.qpic.cn\/sz_mmbiz_jpg\/zcicibWZessAxITbWibFrR6nRVnutEeqghHkKOA8FAQ0UibZzsFPAwicwML2tmY9dH7ichRrTKnEsqdXUG7j7uswUABA\/640?wx_fmt=jpeg'\" data-type=\"jpeg\" data-w=\"936\" \/><\/p>\n<section class=\"code-snippet__fix code-snippet__js\">\n<ul class=\"code-snippet__line-index code-snippet__js\">\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<\/ul>\n<pre class=\"code-snippet__js\" data-lang=\"xml\"><code><span class=\"code-snippet_outer\">\u521b\u5efa\u81f4\u75c5\u6027\u9884\u6d4b\u56fe<\/span><\/code><code><span class=\"code-snippet_outer\">> p3 <- ggplot() +<\/span><\/code><code><span class=\"code-snippet_outer\">geom_boxplot(data = as.data.frame(vcf), aes(x = FUNCANN, y = CADD_PHRED), fill = \"salmon\") +<\/span><\/code><code><span class=\"code-snippet_outer\">labs(x = \"Functional Category\", y = \"CADD PHRED Score\") +<\/span><\/code><code><span class=\"code-snippet_outer\">theme_minimal() +<\/span><\/code><code><span class=\"code-snippet_outer\">theme(axis.text.x = element_text(angle = 45, hjust = 1))<\/span><\/code><\/pre>\n<\/section>\n<p><img decoding=\"async\" class=\"rich_pages wxw-img\" data-ratio=\"0.9897810218978103\" src=\"https:\/\/i0.wp.com\/www.biocloudservice.com\/wordpress\/wp-content\/uploads\/2024\/06\/4_vAu0877leian7DY2EMoibhdLwCswJA.png?w=640\" onerror=\"this.src='https:\/\/mmbiz.qpic.cn\/sz_mmbiz_png\/zcicibWZessAxITbWibFrR6nRVnutEeqghHkyXFSdKDcpA2oesuOWibnCeDdz9vAu0877leian7DY2EMoibhdLwCswJA\/640?wx_fmt=png'\" data-type=\"png\" data-w=\"685\" data-recalc-dims=\"1\" \/><\/p>\n<section class=\"code-snippet__fix code-snippet__js\">\n<ul class=\"code-snippet__line-index code-snippet__js\">\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<li><\/li>\n<\/ul>\n<pre class=\"code-snippet__js\" data-lang=\"xml\"><code><span class=\"code-snippet_outer\"># \u521b\u5efa\u6c28\u57fa\u9178\u53d8\u5316\u56fe<\/span><\/code><code><span class=\"code-snippet_outer\">> p4 <- ggplot() +<\/span><\/code><code><span class=\"code-snippet_outer\">geom_bar(data = as.data.frame(vcf), aes(x = AAChange), fill = \"lightgreen\") +<\/span><\/code><code><span class=\"code-snippet_outer\">labs(x = \"Amino Acid Change\", y = \"Count\") +<\/span><\/code><code><span class=\"code-snippet_outer\">theme_minimal() +<\/span><\/code><code><span class=\"code-snippet_outer\">theme(axis.text.x = element_text(angle = 45, hjust = 1))<\/span><\/code><\/pre>\n<\/section>\n<p><img decoding=\"async\" class=\"rich_pages wxw-img\" data-ratio=\"1\" src=\"\u56fe\u7247\/\u751f\u4fe1\u679c_2023-11-02_\u5c0f\u679c\u5e26\u4f60\u4e00\u8d77\u89e3\u9501\u57fa\u56e0\u7ec4\u53d8\u5f02\u6570\u636e\u5206\u6790\u7684\u79d8\u5bc6\/5_1ghVQu9RFcchFQbWN9Kd55icNAr3WA.png\" onerror=\"this.src='https:\/\/mmbiz.qpic.cn\/sz_mmbiz_png\/zcicibWZessAxITbWibFrR6nRVnutEeqghHvLpZoIWS9th0pIgadLwMOFozM1ghVQu9RFcchFQbWN9Kd55icNAr3WA\/640?wx_fmt=png'\" data-type=\"png\" data-w=\"504\" \/><\/p>\n<p><span style=\"font-size: 14px;\">\u5728\u8fd9\u4e2a\u793a\u4f8b\u4e2d\uff0c\u6211\u4eec\u9996\u5148\u52a0\u8f7d\u4e86VariantAnnotation\u548cggplot2\u5305\uff0c\u5e76\u4f7f\u7528readVcf\u51fd\u6570\u52a0\u8f7d\u4e00\u4e2a\u793a\u4f8bVCF\u6587\u4ef6\u3002\u7136\u540e\uff0c\u6211\u4eec\u4f7f\u7528annotateVariants\u51fd\u6570\u5bf9VCF\u6587\u4ef6\u8fdb\u884c\u6ce8\u91ca\uff0c\u6dfb\u52a0\u4e86\u529f\u80fd\u3001\u81f4\u75c5\u6027\u9884\u6d4b\u7b49\u4fe1\u606f\u3002\u63a5\u4e0b\u6765\uff0c\u6211\u4eec\u521b\u5efa\u4e86\u56db\u4e2a\u7b80\u5355\u7684\u53ef\u89c6\u5316\u56fe\u8868\uff0c\u5206\u522b\u663e\u793a\u4e86\u57fa\u56e0\u7ec4\u5750\u6807\u3001\u529f\u80fd\u7c7b\u522b\u3001\u81f4\u75c5\u6027\u9884\u6d4b\u548c\u6c28\u57fa\u9178\u53d8\u5316\u7684\u4fe1\u606f\u3002<\/span><\/p>\n<p><span style=\"font-size: 14px;\">\u4ee5\u4e0a\u5c31\u662f\u5bf9R\u8bed\u8a00\u5305VariantAnnotation\u7684\u7b80\u5355\u4ecb\u7ecd\u5566\uff0c\u7406\u89e3\u57fa\u56e0\u548c\u86cb\u767d\u8d28\u7684\u529f\u80fd\u5f71\u54cd\u5bf9\u4e8e\u89e3\u91ca\u57fa\u56e0\u7ec4\u53d8\u5f02\u7684\u751f\u7269\u5b66\u542b\u4e49\u81f3\u5173\u91cd\u8981\u3002\u8fd9\u6709\u52a9\u4e8e\u6211\u4eec\u6df1\u5165\u4e86\u89e3\u4e2a\u4f53\u5dee\u5f02\u3001\u75be\u75c5\u53d1\u75c5\u673a\u5236\u4ee5\u53ca\u836f\u7269\u6cbb\u7597\u7684\u6548\u679c\u3002VariantAnnotation\u5305\u4ee5\u5176\u4e30\u5bcc\u7684\u6ce8\u91ca\u5de5\u5177\u548c\u529f\u80fd\uff0c\u4e3a\u7814\u7a76\u4eba\u5458\u63d0\u4f9b\u4e86\u89e3\u51b3\u8fd9\u4e9b\u590d\u6742\u95ee\u9898\u7684\u6709\u529b\u5de5\u5177\uff0c\u4fc3\u8fdb\u4e86\u751f\u7269\u5b66\u6570\u636e\u7684\u6df1\u5165\u7814\u7a76\u548c\u89e3\u91ca\u3002<\/span><\/p>\n<p><strong><span style=\"font-size: 14px;\">\u5c0f\u4f19\u4f34\u4eec\uff0c\u4eca\u5929\u6709\u6ca1\u6709\u5b66\u5230\u65b0\u77e5\u8bc6\u5462\uff0c\u60f3\u8981\u7ee7\u7eed\u4e86\u89e3R\u8bed\u8a00\u5185\u5bb9\u53ef\u4ee5\u6301\u7eed\u5173\u6ce8\u5c0f\u679c\u54e6\uff5e<\/span><\/strong><span style=\"font-size: 14px;\"><\/span><\/p>\n<section powered-by=\"xiumi.us\" style=\"margin-bottom: 0px;letter-spacing: 0.578px;white-space: normal;text-align: left;\">\n<section style=\"font-size: 16px;\">\n<section powered-by=\"xiumi.us\" style=\"margin: 10px;justify-content: flex-start;display: flex;flex-flow: row;\">\n<section style=\"padding-right: 10px;padding-left: 10px;display: inline-block;width: 558px;vertical-align: top;border-style: dashed;border-width: 1px;border-color: rgb(62, 62, 62);align-self: flex-start;flex: 0 0 auto;\">\n<section powered-by=\"xiumi.us\" style=\"margin-top: 10px;margin-bottom: 10px;\">\n<section style=\"display: inline-block;width: 536px;border-width: 0px 0px 0px 10px;border-style: 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