{"id":50012122,"date":"2024-09-18T15:16:57","date_gmt":"2024-09-18T19:16:57","guid":{"rendered":"https:\/\/gp2stg.wpenginepowered.com\/gp2%e7%ac%ac%e5%85%ab%e6%ac%a1%e6%95%b0%e6%8d%ae%e5%8f%91%e5%b8%83%e5%86%85%e5%ae%b9\/"},"modified":"2024-10-21T15:54:51","modified_gmt":"2024-10-21T19:54:51","slug":"gp2%e7%ac%ac%e5%85%ab%e6%ac%a1%e6%95%b0%e6%8d%ae%e5%8f%91%e5%b8%83%e5%86%85%e5%ae%b9","status":"publish","type":"post","link":"https:\/\/gp2.org\/zh-hans\/gp2%e7%ac%ac%e5%85%ab%e6%ac%a1%e6%95%b0%e6%8d%ae%e5%8f%91%e5%b8%83%e5%86%85%e5%ae%b9\/","title":{"rendered":"GP2\u7b2c\u516b\u6b21\u6570\u636e\u53d1\u5e03\u5185\u5bb9"},"content":{"rendered":"<h2><span style=\"font-weight: 400;\">\u6982\u8ff0<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">2024\u5e749\u6708\uff0cGP2 \u5ba3\u5e03\u4e0e AMP<\/span><span style=\"font-weight: 400;\">\u00ae<\/span><span style=\"font-weight: 400;\"> PD <\/span>\u5408\u4f5c\uff0c\u5728 Terra \u548c Verily\u00ae Workbench <span style=\"font-weight: 400;\">\u5e73\u53f0\u4e0a\u53d1\u5e03\u7b2c\u516b\u6b21\u6570\u636e\u3002<span style=\"font-weight: 400;\">\u6b64\u6b21\u53d1\u5e03\u5305\u62ec5,481\u4e2a\u989d\u5916\u7684\u5168\u57fa\u56e0\u7ec4\u5e8f\u5217\u548c10,454\u4e2a\u4e34\u5e8a\u5916\u663e\u5b50\u7ec4\u5e8f\u5217\u3002\u540e\u7eed\u7248\u672c\u4e2d\u5c06\u63d0\u4f9b\u989d\u5916\u7684\u57fa\u56e0\u5206\u578b\u4fe1\u606f\u3002<\/span><\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">\u76ee\u524d\uff0c\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f (WGS) \u6570\u636e\u5171\u5305\u542b7,734\u540d\u6d4b\u5e8f\u53c2\u4e0e\u8005\uff086,113\u4f8bPD\u75c5\u4f8b\u3001617\u4f8b\u5bf9\u7167\u548c1,004\u4f8b\u201c\u5176\u4ed6\u201d\u8868\u578b\uff09\u3002<\/span>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"2\"><span style=\"font-weight: 400;\">\u53bb\u6389\u672c\u5730\u9650\u5236\u6837\u672c\u540e\uff0c\u6837\u672c\u73b0\u5305\u62ec4,713\u540d\u53c2\u4e0e\u8005\uff084,098\u540dPD\u75c5\u4f8b\u3001390\u540d\u5bf9\u7167\u548c225\u540d\u201c\u5176\u4ed6\u201d\u8868\u578b\uff09\u3002<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"2\"><span style=\"font-weight: 400;\">\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0c\u901a\u8fc7\u5355\u57fa\u56e0\u7f51\u7edc\u62db\u52df\u7684\u75c5\u4f8b\u88ab\u7f16\u7801\u4e3a\u201c\u5176\u4ed6\u201d\u3002<\/span><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<ul>\n<li><span style=\"font-weight: 400;\">\u6b64\u5916\uff0c\u6b64\u6b21WGS\u53d1\u5e03\u4e2d\u8fd8\u5305\u542b\u4e24\u4e2aAMP <\/span><span style=\"font-weight: 400;\">\u00ae PD<span style=\"font-weight: 400;\">\u961f\u5217\uff08BioFind \u548c PPMI\uff09\u7684\u90e8\u5206\u5168\u57fa\u56e0\u7ec4\u5e8f\u5217\u53d1\u5e03\uff0c\u8fd9\u4e9b\u5e8f\u5217\u5df2\u4e0eGP2 WGS\u8054\u5408\u8c03\u7528\u3002\u5df2\u53d1\u5e03\u7684\u6837\u672c\u53ef\u4ee5\u901a\u8fc7\u53d1\u5e03\u7248\u672c\u4e2d\u9644\u5e26\u7684ID\u4ea4\u53c9\u5bf9\u7167\u6587\u4ef6\u94fe\u63a5\u56de\u539f\u59cbAMP<\/span><span style=\"font-weight: 400;\">\u00ae<\/span><span style=\"font-weight: 400;\"> PD ID\u3002<\/span><\/span><\/li>\n<\/ul>\n<ul>\n<li><span style=\"font-weight: 400;\">\u6b64\u6b21\u53d1\u5e03\u8fd8\u5305\u62ec\u6765\u81ea\u5e15\u91d1\u68ee\u57fa\u91d1\u4f1a\u768410,454\u540d\u8054\u5408\u4e34\u5e8a\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u53c2\u4e0e\u8005\u3002<\/span><\/li>\n<\/ul>\n<ul>\n<li><span style=\"font-weight: 400;\">\u6b64\u6b21\u53d1\u5e03\u5171\u5305\u542b<\/span><span style=\"font-weight: 400;\">62,087\u540d\u62e5\u6709\u6838\u5fc3\u4e34\u5e8a\u6570\u636e\u7684\u4e2a\u4eba<\/span><span style=\"font-weight: 400;\">\u3002\u5176\u4e2d\uff0c16,800\u4eba\u62e5\u6709\u6df1\u5165\u7684\u4e34\u5e8a\u8868\u578b\u548c\u9057\u4f20\u6570\u636e\u3002<\/span><\/li>\n<\/ul>\n<h2><span style=\"font-weight: 400;\">\u6b64\u6b21\u53d1\u5e03\u6709\u54ea\u4e9b\u65b0\u5185\u5bb9\uff1f<\/span><\/h2>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\">\u989d\u5916\u7684GP2\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u6837\u672c\u548c\u8054\u5408\u8c03\u7528\u7684\u53d8\u4f53\u96c6\uff0c\u5305\u62ec\u6765\u81ea\u4e24\u4e2aAMP <span style=\"font-weight: 400;\">\u00ae<\/span><span style=\"font-weight: 400;\">PD\u961f\u5217\uff08BioFind \u548c PPMI\uff09\u7684\u6837\u672c<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u5e15\u91d1\u68ee\u57fa\u91d1\u4f1a\u7684\u4e34\u5e8a\u5916\u663e\u5b50\u7ec4\u6570\u636e<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u4e2a\u4eba\u4e34\u5e8a\u6570\u636e\u589e\u591a\uff0c\u4f7f\u6211\u4eec\u62e5\u6709\u6838\u5fc3\u4e34\u5e8a\u6570\u636e\u7684\u4e2a\u4eba\u603b\u6570\u8fbe\u523062,087\u4eba<\/span><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<h4><b>\u901a\u8fc7 Verily Viewpoint Workbench\u5f15\u5165\u672c\u5730\u53d7\u9650\u7684 GDPR \u6837\u672c<\/b><\/h4>\n<p><span style=\"font-weight: 400;\">\u901a\u8fc7\u4e0e Verily Viewpoint Workbench \u7684\u5408\u4f5c\uff0c\u6211\u4eec\u6b63\u5728\u7ee7\u7eed\u8bd5\u884c\u5141\u8bb8\u8bbf\u95ee\u672c\u5730\u53d7\u9650\u6837\u672c\uff0c\u5373\u53d7\u300a\u4e00\u822c\u6570\u636e\u4fdd\u62a4\u6761\u4f8b\u300b\uff08GDPR\uff09\u653f\u7b56\u7ba1\u8f96\u7684\u6837\u672c\u3002<\/span><span style=\"font-weight: 400;\">\u76ee\u524d\uff0c\u968f\u7740GP2\u7ee7\u7eed\u4e3a\u53d7GDPR\u4fdd\u62a4\u7684\u6570\u636e\u5b9e\u65bd\u6570\u636e\u5171\u4eab\u89e3\u51b3\u65b9\u6848\uff0c\u53d7\u5730\u533a\u9650\u5236\u7684\u7b2c\u516b\u6b21\u53d1\u5e03\u7684\u6570\u636e\u5c06\u4ec5\u63d0\u4f9b\u7ed9GP2\u8054\u76df\u6210\u5458\u548c\u5408\u4f5c\u4f19\u4f34\u3002\u968f\u77402024\u5e74\u6d4b\u8bd5\u548c\u5b9e\u65bd\u7684\u7ee7\u7eed\uff0c\u8be5\u89e3\u51b3\u65b9\u6848\u5c06\u53ef\u4f9b\u66f4\u5e7f\u6cdb\u7684\u7814\u7a76\u754c\u4f7f\u7528\u3002\u6240\u6709\u7b2c\u516b\u6b21\u53d1\u5e03\u7684\u6837\u672c\u5747\u53ef\u5728Workbench\u4e0a\u627e\u5230\u3002\u800c\u4e0d\u53d7GDPR\u9650\u5236\u7684\u6240\u6709\u7b2c\u516b\u6b21\u53d1\u5e03\u6837\u672c\u90fd\u53ef\u4ee5\u5728Terra\u4e0a\u7684\u793e\u533a\u5de5\u4f5c\u53f0\u4e0a\u627e\u5230\uff08\u4e0e\u4e4b\u524d\u7684\u6240\u6709\u53d1\u5e03\u7684\u6570\u636e\u4e00\u6837\uff09\u3002\u8981\u8bbf\u95eeVWB\u4e0a\u7684\u5b8c\u6574\u7248\u672c\uff0c\u60a8\u5fc5\u987b\uff1a<\/span><\/p>\n<ol>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u6709GP2\u4e8c\u7ea7\u7ea7\u8bbf\u95ee\u6743\u9650<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u586b\u5199GDPR\u89c4\u5b9a\u7684\u6837\u672c<\/span><strong><a href=\"https:\/\/forms.gle\/XrZthT18CYbGjifp7\" target=\"_blank\" rel=\"noopener\">\u7533\u8bf7\u8868<\/a><\/strong>\u3002<\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u662fGP2\u8054\u76df\u6210\u5458\uff08\u8d21\u732e\u961f\u5217\u3001GP2\u5408\u4f5c\u4f19\u4f34\u6216\u9879\u76ee\u5206\u6790\u5c0f\u7ec4\u6210\u5458\uff09<\/span><\/li>\n<\/ol>\n<h4><b>\u4e34\u5e8a\u6570\u636e<\/b><\/h4>\n<p><span style=\"font-weight: 400;\">\u6b64\u7248\u672c\u5305\u542b<\/span><span style=\"font-weight: 400;\">\u603b\u517162,087\u540d\u4e2a\u4eba\u7684\u4e34\u5e8a\u6570\u636e\uff0c\u8fd9\u4e9b\u4e2a\u4eba\u62e5\u6709\u9057\u4f20\u548c\u6838\u5fc3\u4e34\u5e8a\u6570\u636e<\/span><span style=\"font-weight: 400;\">\u3002\u6b64\u6b21\u53d1\u5e03\u7684\u5185\u5bb9\u5305\u542b16,800\u540d\u4e2a\u4f53\u7684\u6df1\u5ea6\u4e34\u5e8a\u8868\u578b\u6570\u636e\u548c\u57fa\u56e0\u6570\u636e\u3002\u8fd9\u4e9b\u4fe1\u606f\u5305\u62ec\uff1a<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u786e\u8bca\u548c\u53d1\u75c5\u5e74\u9f84<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u4e3b\u8981\u8bca\u65ad\u3001\u5f53\u524d\u8bca\u65ad\u548c\u6700\u65b0\u8bca\u65ad<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u8ba4\u77e5\u6d4b\u8bd5\uff0c\u4f8b\u5982\u7b80\u6613\u7cbe\u795e\u72b6\u6001\u68c0\u67e5\u548c\u8499\u7279\u5229\u5c14\u8ba4\u77e5\u8bc4\u4f30<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u8fd0\u52a8\u969c\u788d\u534f\u4f1a\u8d5e\u52a9\u7684\u7edf\u4e00\u5e15\u91d1\u68ee\u75c5\u8bc4\u5b9a\u91cf\u8868\u4fee\u8ba2\u7248<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u8be6\u7ec6\u7684\u201c\u5176\u4ed6\u201d\u8868\u578b\uff0c\u5982\u8def\u6613\u4f53\u75f4\u5446\u75c7<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u901a\u8fc7\u5355\u57fa\u56e0\u7f51\u7edc\u62db\u52df\u7684\u75c5\u4f8b\u88ab\u7f16\u7801\u4e3a\u201c\u5176\u4ed6\u201d<\/span><\/li>\n<\/ul>\n<h4><b>\u4e34\u5e8a\u5916\u663e\u5b50\u7ec4\u5e8f\u5217<\/b><\/h4>\n<p><span style=\"font-weight: 400;\">\u5e15\u91d1\u68ee\u57fa\u91d1\u4f1a\u63d0\u4f9b\u7684\u4e34\u5e8a\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u53ef\u7528\u4e8e\u672c\u6b21\u53d1\u5e03\u768410,454\u4e2a\u5e15\u91d1\u68ee\u57fa\u91d1\u4f1a\u6837\u672c\uff0c\u63d0\u4f9b4,717\u4e2a\u57fa\u56e0\u7684\u7f16\u7801\u533a\u548c\u526a\u63a5\u70b9\u7684\u5206\u6790\u3002\u8fd9\u4e9b\u9488\u5bf9\u6027\u7684\u6d4b\u5e8f\u65e8\u5728\u8bc6\u522b\u548c\u62a5\u544a\u5177\u6709\u6f5c\u5728\u4e34\u5e8a\u610f\u4e49\u7684\u53d8\u5f02\uff0c\u91cd\u70b9\u5173\u6ce8\u90a3\u4e9b\u4e0e\u60a3\u8005\u4e34\u5e8a\u4fe1\u606f\u548c\u5bb6\u65cf\u53f2\u76f8\u7b26\u7684\u53d8\u5f02\u3002\u6b32\u4e86\u89e3\u66f4\u8be6\u7ec6\u4fe1\u606f\uff0c\u8bf7\u8bbf\u95ee<\/span> <strong><a href=\"https:\/\/fulgentgenetics.com\/clinical-exome\" target=\"_blank\" rel=\"noopener\">Fulgent Genetics<\/a><\/strong><span style=\"font-weight: 400;\">\u4e34\u5e8a\u5916\u663e\u5b50\u7ec4\u9875\u9762\u3002<\/span><\/p>\n<h4><b> DeepVariant-GLnexus \u7684\u5168\u57fa\u56e0\u7ec4\u5e8f\u5217<\/b><\/h4>\n<p><span style=\"font-weight: 400;\">\u6211\u4eec\u4f7f\u7528<a href=\"https:\/\/github.com\/google\/deepvariant\" target=\"_blank\" rel=\"noopener\">Google\u7684DeepVariant\u6d41\u7a0b<\/a><\/span><span style=\"font-weight: 400;\">\u4e0e <a href=\"https:\/\/github.com\/dnanexus-rnd\/GLnexus\" target=\"_blank\" rel=\"noopener\">GLnexus<\/a><\/span><span style=\"font-weight: 400;\">\u8fdb\u884c\u7fa4\u7ec4\u7ea7\u53d8\u4f53\u8c03\u7528\u3002DeepVariant\u662f\u4e00\u6b3e\u57fa\u4e8e\u6df1\u5ea6\u5b66\u4e60\u7684\u53d8\u4f53\u8c03\u7528\u5668\uff0c\u901a\u8fc7\u51c6\u786e\u7684\u5728\u4e2a\u4f53\u7ea7\u522b\u4e0a\u68c0\u6d4b\u51fa\u57fa\u56e0\u53d8\u5f02\uff0c\u5176\u6027\u80fd\u4f18\u4e8e\u73b0\u6709\u7684\u6700\u5148\u8fdb\u5de5\u5177\u3002\u5b83\u8fd8\u7b80\u5316\u4e86\u8fc7\u7a0b\uff0c\u63d0\u9ad8\u4e86\u51c6\u786e\u6027\u548c\u53ef\u9760\u6027\u3002\u00a0<\/span> <span style=\"font-weight: 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