{"id":43146,"date":"2024-06-01T22:26:23","date_gmt":"2024-06-01T14:26:23","guid":{"rendered":"http:\/\/www.biocloudservice.com\/wordpress\/?p=43146"},"modified":"2024-06-01T22:30:37","modified_gmt":"2024-06-01T14:30:37","slug":"%e6%8e%a2%e7%b4%a2%e9%81%97%e4%bc%a0%e6%95%b0%e6%8d%ae%e5%88%86%e6%9e%90%e7%9a%84%e5%bc%ba%e5%a4%a7%e5%b7%a5%e5%85%b7%ef%bc%9aplink","status":"publish","type":"post","link":"http:\/\/www.biocloudservice.com\/wordpress\/?p=43146","title":{"rendered":"\u63a2\u7d22\u9057\u4f20\u6570\u636e\u5206\u6790\u7684\u5f3a\u5927\u5de5\u5177\uff1aPLINK"},"content":{"rendered":"\n<h1 class=\"wp-block-heading\"><\/h1>\n\n\n\n<p>\u5728\u9057\u4f20\u5b66\u7814\u7a76\u4e2d\uff0c\u5904\u7406\u548c\u5206\u6790\u5927\u89c4\u6a21\u7684\u57fa\u56e0\u7ec4\u6570\u636e\u662f\u4e00\u9879\u590d\u6742\u4e14\u7e41\u91cd\u7684\u4efb\u52a1\u3002\u4e3a\u4e86\u5e94\u5bf9\u8fd9\u4e00\u6311\u6218\uff0c\u7814\u7a76\u4eba\u5458\u5f00\u53d1\u4e86\u591a\u79cd\u5de5\u5177\u548c\u8f6f\u4ef6\uff0c\u800cPLINK\u65e0\u7591\u662f\u5176\u4e2d\u6700\u4e3a\u5e7f\u6cdb\u4f7f\u7528\u548c\u529f\u80fd\u5f3a\u5927\u7684\u4e00\u4e2a\u3002PLINK\u4e0d\u4ec5\u5728\u57fa\u56e0\u7ec4\u5173\u8054\u7814\u7a76\uff08Genome-Wide Association Studies, GWAS\uff09\u4e2d\u53d1\u6325\u7740\u91cd\u8981\u4f5c\u7528\uff0c\u8fd8\u5728\u591a\u79cd\u9057\u4f20\u5b66\u5206\u6790\u4e2d\u63d0\u4f9b\u4e86\u5f3a\u5927\u7684\u652f\u6301\u3002\u672c\u6587\u5c06\u8be6\u7ec6\u4ecb\u7ecdPLINK\u7684\u529f\u80fd\u3001\u4f7f\u7528\u65b9\u6cd5\u53ca\u5176\u5728\u9057\u4f20\u5b66\u7814\u7a76\u4e2d\u7684\u91cd\u8981\u6027\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4ec0\u4e48\u662fPLINK\uff1f<\/h2>\n\n\n\n<p>PLINK\u662f\u4e00\u4e2a\u5f00\u6e90\u7684\u9057\u4f20\u6570\u636e\u5206\u6790\u5de5\u5177\uff0c\u7531Shaun Purcell\u5f00\u53d1\uff0c\u4e13\u95e8\u7528\u4e8e\u5927\u89c4\u6a21\u57fa\u56e0\u7ec4\u6570\u636e\u7684\u8d28\u91cf\u63a7\u5236\u548c\u5206\u6790\u3002\u81ea\u63a8\u51fa\u4ee5\u6765\uff0cPLINK\u56e0\u5176\u9ad8\u6548\u3001\u7075\u6d3b\u548c\u529f\u80fd\u4e30\u5bcc\u800c\u53d7\u5230\u5e7f\u6cdb\u6b22\u8fce\u3002\u8be5\u5de5\u5177\u53ef\u4ee5\u5904\u7406\u4ece\u4e2a\u4f53\u57fa\u56e0\u578b\u6570\u636e\u5230\u5927\u89c4\u6a21\u7684\u7fa4\u4f53\u9057\u4f20\u6570\u636e\uff0c\u652f\u6301\u591a\u79cd\u5206\u6790\u4efb\u52a1\uff0c\u5305\u62ec\u6570\u636e\u6e05\u6d17\u3001\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u5173\u8054\u5206\u6790\u3001\u7fa4\u4f53\u7ed3\u6784\u5206\u6790\u3001\u8fde\u9501\u4e0d\u5e73\u8861\u5206\u6790\u7b49\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">PLINK\u7684\u4e3b\u8981\u529f\u80fd<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">1. \u6570\u636e\u6e05\u6d17\u548c\u8d28\u91cf\u63a7\u5236<\/h3>\n\n\n\n<p>\u5728\u9057\u4f20\u5b66\u7814\u7a76\u4e2d\uff0c\u6570\u636e\u6e05\u6d17\u548c\u8d28\u91cf\u63a7\u5236\u662f\u786e\u4fdd\u5206\u6790\u7ed3\u679c\u51c6\u786e\u6027\u7684\u5173\u952e\u6b65\u9aa4\u3002PLINK\u63d0\u4f9b\u4e86\u4e00\u7cfb\u5217\u529f\u80fd\uff0c\u7528\u4e8e\u68c0\u6d4b\u548c\u5904\u7406\u57fa\u56e0\u578b\u6570\u636e\u4e2d\u7684\u5404\u79cd\u95ee\u9898\uff1a<\/p>\n\n\n\n<ul>\n<li><strong>\u4e2a\u4f53\u548cSNP\u7684\u7f3a\u5931\u7387\u8fc7\u6ee4\uff1a<\/strong> \u5220\u9664\u7f3a\u5931\u7387\u9ad8\u7684\u4e2a\u4f53\u548cSNP\u3002<\/li>\n\n\n\n<li><strong>\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\u8fc7\u6ee4\uff1a<\/strong> \u8fc7\u6ee4\u6389\u5c0f\u4e8e\u8bbe\u5b9a\u9608\u503c\u7684\u7b49\u4f4d\u57fa\u56e0\u9891\u7387\u3002<\/li>\n\n\n\n<li><strong>\u54c8\u8fea-\u6e29\u4f2f\u683c\u5e73\u8861\u68c0\u9a8c\uff1a<\/strong> \u68c0\u6d4bSNP\u662f\u5426\u7b26\u5408\u54c8\u8fea-\u6e29\u4f2f\u683c\u5e73\u8861\u3002<\/li>\n\n\n\n<li><strong>\u6027\u522b\u68c0\u67e5\uff1a<\/strong> \u6839\u636e\u6027\u67d3\u8272\u4f53\u6570\u636e\u68c0\u67e5\u4e2a\u4f53\u6027\u522b\u4e0e\u8bb0\u5f55\u662f\u5426\u4e00\u81f4\u3002<\/li>\n<\/ul>\n\n\n\n<pre class=\"wp-block-code\"><code>plink --file mydata --mind 0.1 --geno 0.1 --maf 0.05 --hwe 1e-6 --check-sex<\/code><\/pre>\n\n\n\n<h3 class=\"wp-block-heading\">2. \u57fa\u56e0\u578b\u4e0e\u8868\u578b\u5173\u8054\u5206\u6790<\/h3>\n\n\n\n<p>PLINK\u80fd\u591f\u6267\u884c\u591a\u79cd\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u7684\u5173\u8054\u5206\u6790\uff0c\u662fGWAS\u7814\u7a76\u4e2d\u5e38\u7528\u7684\u5de5\u5177\u4e4b\u4e00\uff1a<\/p>\n\n\n\n<ul>\n<li><strong>\u5355\u53d8\u91cf\u7ebf\u6027\u56de\u5f52\uff1a<\/strong> \u7528\u4e8e\u8fde\u7eed\u6027\u8868\u578b\u7684\u5173\u8054\u5206\u6790\u3002<\/li>\n\n\n\n<li><strong>\u903b\u8f91\u56de\u5f52\uff1a<\/strong> \u7528\u4e8e\u4e8c\u5206\u7c7b\u8868\u578b\u7684\u5173\u8054\u5206\u6790\u3002<\/li>\n\n\n\n<li><strong>\u591a\u53d8\u91cf\u5206\u6790\uff1a<\/strong> \u8003\u8651\u591a\u4e2a\u534f\u53d8\u91cf\u7684\u5f71\u54cd\u3002<\/li>\n<\/ul>\n\n\n\n<pre class=\"wp-block-code\"><code>plink --bfile mydata --assoc --covar covariates.txt<\/code><\/pre>\n\n\n\n<h3 class=\"wp-block-heading\">3. \u7fa4\u4f53\u7ed3\u6784\u5206\u6790<\/h3>\n\n\n\n<p>PLINK\u63d0\u4f9b\u4e86\u591a\u79cd\u5de5\u5177\uff0c\u7528\u4e8e\u5206\u6790\u7fa4\u4f53\u7ed3\u6784\u548c\u4e2a\u4f53\u95f4\u7684\u9057\u4f20\u5173\u7cfb\uff1a<\/p>\n\n\n\n<ul>\n<li><strong>\u4e3b\u6210\u5206\u5206\u6790\uff08PCA\uff09\uff1a<\/strong> \u7528\u4e8e\u68c0\u6d4b\u548c\u6821\u6b63\u7fa4\u4f53\u7ed3\u6784\u3002<\/li>\n\n\n\n<li><strong>\u8eab\u4efd\u9a8c\u8bc1\uff1a<\/strong> \u901a\u8fc7\u8ba1\u7b97\u4e2a\u4f53\u95f4\u7684\u9057\u4f20\u8ddd\u79bb\u6765\u8bc6\u522b\u4eb2\u7f18\u5173\u7cfb\u3002<\/li>\n<\/ul>\n\n\n\n<pre class=\"wp-block-code\"><code>plink --bfile mydata --pca<\/code><\/pre>\n\n\n\n<h3 class=\"wp-block-heading\">4. \u8fde\u9501\u4e0d\u5e73\u8861\u5206\u6790<\/h3>\n\n\n\n<p>PLINK\u80fd\u591f\u8ba1\u7b97\u548c\u53ef\u89c6\u5316\u8fde\u9501\u4e0d\u5e73\u8861\uff08LD\uff09\u6a21\u5f0f\uff0c\u5e2e\u52a9\u7814\u7a76\u4eba\u5458\u4e86\u89e3\u57fa\u56e0\u53d8\u5f02\u95f4\u7684\u5173\u8054\uff1a<\/p>\n\n\n\n<ul>\n<li><strong>LD\u77e9\u9635\uff1a<\/strong> \u8ba1\u7b97SNP\u5bf9\u95f4\u7684LD\u3002<\/li>\n\n\n\n<li><strong>LD\u56fe\u8c31\uff1a<\/strong> \u53ef\u89c6\u5316\u57fa\u56e0\u7ec4\u533a\u57df\u5185\u7684LD\u7ed3\u6784\u3002<\/li>\n<\/ul>\n\n\n\n<pre class=\"wp-block-code\"><code>plink --bfile mydata --ld-window-kb 1000 --ld-window 99999 --r2 --out ld_matrix<\/code><\/pre>\n\n\n\n<h3 class=\"wp-block-heading\">5. \u5176\u4ed6\u529f\u80fd<\/h3>\n\n\n\n<ul>\n<li><strong>IBD\uff08Identical by Descent\uff09\u5206\u6790\uff1a<\/strong> \u68c0\u6d4b\u4e2a\u4f53\u95f4\u5171\u4eab\u7684\u57fa\u56e0\u7ec4\u6bb5\u3002<\/li>\n\n\n\n<li><strong>PLINK\/SEQ\uff1a<\/strong> \u7528\u4e8e\u5e8f\u5217\u6570\u636e\u7684\u53d8\u5f02\u68c0\u6d4b\u548c\u6ce8\u91ca\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u5982\u4f55\u4f7f\u7528PLINK\uff1f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">\u6b65\u9aa4\u4e00\uff1a\u5b89\u88c5PLINK<\/h3>\n\n\n\n<p>PLINK\u53ef\u4ee5\u5728\u591a\u79cd\u64cd\u4f5c\u7cfb\u7edf\u4e0a\u8fd0\u884c\uff0c\u5305\u62ecWindows\u3001MacOS\u548cLinux\u3002\u7528\u6237\u53ef\u4ee5\u4ecePLINK\u5b98\u65b9\u7f51\u7ad9\u4e0b\u8f7d\u9002\u5408\u81ea\u5df1\u64cd\u4f5c\u7cfb\u7edf\u7684\u7248\u672c\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u6b65\u9aa4\u4e8c\uff1a\u51c6\u5907\u6570\u636e<\/h3>\n\n\n\n<p>PLINK\u652f\u6301\u591a\u79cd\u6570\u636e\u683c\u5f0f\uff0c\u5305\u62ec\u7eaf\u6587\u672c\u683c\u5f0f\uff08PED\/MAP\uff09\u3001\u4e8c\u8fdb\u5236\u683c\u5f0f\uff08BED\/BIM\/FAM\uff09\u7b49\u3002\u5728\u4f7f\u7528PLINK\u8fdb\u884c\u5206\u6790\u524d\uff0c\u786e\u4fdd\u6570\u636e\u683c\u5f0f\u6b63\u786e\u5e76\u7b26\u5408PLINK\u7684\u8f93\u5165\u8981\u6c42\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u6b65\u9aa4\u4e09\uff1a\u6267\u884c\u5206\u6790<\/h3>\n\n\n\n<p>\u6839\u636e\u5177\u4f53\u7684\u5206\u6790\u9700\u6c42\uff0c\u7528\u6237\u53ef\u4ee5\u4f7f\u7528PLINK\u63d0\u4f9b\u7684\u547d\u4ee4\u8fdb\u884c\u6570\u636e\u6e05\u6d17\u3001\u5173\u8054\u5206\u6790\u3001\u7fa4\u4f53\u7ed3\u6784\u5206\u6790\u7b49\u3002\u4ee5\u4e0b\u662f\u4e00\u4e2a\u5178\u578b\u7684GWAS\u5206\u6790\u6d41\u7a0b\u793a\u4f8b\uff1a<\/p>\n\n\n\n<pre class=\"wp-block-code\"><code># \u6570\u636e\u6e05\u6d17\nplink --file mydata --mind 0.1 --geno 0.1 --maf 0.05 --hwe 1e-6 --make-bed --out clean_data\n\n# PCA\u5206\u6790\nplink --bfile clean_data --pca --out pca_results\n\n# \u5173\u8054\u5206\u6790\nplink --bfile clean_data --assoc --covar covariates.txt --out assoc_results<\/code><\/pre>\n\n\n\n<h3 class=\"wp-block-heading\">\u6b65\u9aa4\u56db\uff1a\u89e3\u91ca\u548c\u53ef\u89c6\u5316\u7ed3\u679c<\/h3>\n\n\n\n<p>PLINK\u751f\u6210\u7684\u7ed3\u679c\u6587\u4ef6\u53ef\u4ee5\u8fdb\u4e00\u6b65\u5904\u7406\u548c\u53ef\u89c6\u5316\uff0c\u4ee5\u4fbf\u89e3\u91ca\u5206\u6790\u7ed3\u679c\u3002\u7528\u6237\u53ef\u4ee5\u4f7f\u7528R\u6216Python\u7b49\u7f16\u7a0b\u8bed\u8a00\uff0c\u7ed3\u5408\u76f8\u5e94\u7684\u53ef\u89c6\u5316\u5e93\uff08\u5982ggplot2\u3001matplotlib\u7b49\uff09\u8fdb\u884c\u6570\u636e\u53ef\u89c6\u5316\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">PLINK\u7684\u4f18\u52bf<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">1. \u9ad8\u6548\u6027<\/h3>\n\n\n\n<p>PLINK\u4ee5\u5176\u9ad8\u6548\u7684\u8ba1\u7b97\u80fd\u529b\u8457\u79f0\uff0c\u80fd\u591f\u5904\u7406\u5927\u89c4\u6a21\u7684\u57fa\u56e0\u7ec4\u6570\u636e\u3002\u65e0\u8bba\u662f\u6570\u636e\u6e05\u6d17\u3001\u5173\u8054\u5206\u6790\uff0c\u8fd8\u662f\u590d\u6742\u7684\u7fa4\u4f53\u7ed3\u6784\u5206\u6790\uff0cPLINK\u90fd\u80fd\u5728\u8f83\u77ed\u65f6\u95f4\u5185\u5b8c\u6210\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">2. \u7075\u6d3b\u6027<\/h3>\n\n\n\n<p>PLINK\u63d0\u4f9b\u4e86\u4e30\u5bcc\u7684\u53c2\u6570\u8bbe\u7f6e\u548c\u5206\u6790\u9009\u9879\uff0c\u7528\u6237\u53ef\u4ee5\u6839\u636e\u5177\u4f53\u7684\u7814\u7a76\u9700\u6c42\uff0c\u81ea\u7531\u8c03\u6574\u548c\u7ec4\u5408\u4e0d\u540c\u7684\u5206\u6790\u6b65\u9aa4\u3002\u5b83\u652f\u6301\u591a\u79cd\u6570\u636e\u683c\u5f0f\u548c\u8f93\u5165\u7c7b\u578b\uff0c\u5177\u6709\u5f88\u9ad8\u7684\u7075\u6d3b\u6027\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">3. 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