{"id":6869,"date":"2026-02-21T12:34:30","date_gmt":"2026-02-21T04:34:30","guid":{"rendered":"https:\/\/nullthought.net\/?p=6869"},"modified":"2026-02-21T12:34:49","modified_gmt":"2026-02-21T04:34:49","slug":"deeprare%ef%bc%9a%e6%99%ba%e8%83%bd%e4%bd%93%e5%bc%8f%e7%bd%95%e8%a7%81%e7%97%85%e5%be%aa%e8%af%81%e6%8e%a8%e7%90%86%e8%af%8a%e6%96%ad%e7%b3%bb%e7%bb%9f","status":"publish","type":"post","link":"https:\/\/nullthought.net\/?p=6869","title":{"rendered":"DeepRare\uff1a\u667a\u80fd\u4f53\u5f0f\u7f55\u89c1\u75c5\u5faa\u8bc1\u63a8\u7406\u8bca\u65ad\u7cfb\u7edf"},"content":{"rendered":"\n<p>\u8bba\u6587<strong><a href=\"https:\/\/www.nature.com\/articles\/s41586-025-10097-9\" target=\"_blank\" rel=\"noreferrer noopener\">An agentic system for rare disease diagnosis with traceable reasoning<\/a><\/strong>\uff08Weike Zhao, Chaoyi Wu, Yanjie Fan, Pengcheng Qiu, Xiaoman Zhang, Yuze Sun, Xiao Zhou, Shuju Zhang, Yu Peng, Yanfeng Wang, Xin Sun, Ya Zhang, Yongguo Yu, Kun Sun &amp; Weidi Xie\uff09\u60f3\u89e3\u51b3\u4e00\u4e2a\u5f88\u73b0\u5b9e\u7684\u75db\u70b9\uff1a<strong>\u7f55\u89c1\u75c5\u867d\u7136\u201c\u5355\u4e2a\u5f88\u5c11\u89c1\u201d\uff0c\u4f46\u52a0\u8d77\u6765\u5f71\u54cd\u8d85\u8fc73\u4ebf\u4eba<\/strong>\uff0c\u800c\u4e14\u56e0\u4e3a\u75c7\u72b6\u590d\u6742\u3001\u533b\u751f\u7ecf\u9a8c\u6709\u9650\u3001\u77e5\u8bc6\u66f4\u65b0\u5feb\uff0c\u5f88\u591a\u60a3\u8005\u4f1a\u7ecf\u5386\u5e73\u5747<strong>5\u5e74\u4ee5\u4e0a\u7684\u201c\u8bca\u65ad\u6f02\u6cca\u201d<\/strong>\uff1a\u53cd\u590d\u8f6c\u8bca\u3001\u8bef\u8bca\u3001\u505a\u4e86\u4e0d\u5fc5\u8981\u7684\u68c0\u67e5\u6216\u6cbb\u7597\uff0c\u65e2\u803d\u8bef\u75c5\u60c5\u4e5f\u8017\u8d39\u5de8\u5927\u6210\u672c\u3002\u4f5c\u8005\u63d0\u51fa\u7684\u7cfb\u7edf\u53eb <strong>DeepRare<\/strong>\uff0c\u76ee\u6807\u4e0d\u662f\u201c\u66ff\u4ee3\u533b\u751f\u201d\uff0c\u800c\u662f\u505a\u4e00\u4e2a\u80fd\u5e2e\u533b\u751f\u66f4\u5feb\u7f29\u5c0f\u8303\u56f4\u7684<strong>\u9274\u522b\u8bca\u65ad\u51b3\u7b56\u652f\u6301<\/strong>\u5de5\u5177\u3002<\/p>\n\n\n\n<p><strong>DeepRare \u7684\u6838\u5fc3\u601d\u8def<\/strong>\u53ef\u4ee5\u7528\u4e00\u53e5\u8bdd\u6982\u62ec\uff1a\u628a\u5927\u6a21\u578b\u5f53\u201c\u603b\u6307\u6325\u201d\uff0c\u518d\u914d\u4e0a\u4e00\u7fa4\u5404\u53f8\u5176\u804c\u7684\u201c\u4e13\u79d1\u52a9\u624b\u201d\u548c\u5f88\u591a\u533b\u5b66\u5de5\u5177\/\u77e5\u8bc6\u5e93\uff0c\u8ba9\u7cfb\u7edf\u50cf\u4e34\u5e8a\u56e2\u961f\u4f1a\u8bca\u4e00\u6837\u5de5\u4f5c\uff0c\u5e76\u4e14\u628a\u6bcf\u4e00\u6b65\u4e3a\u4ec0\u4e48\u8fd9\u4e48\u60f3\u3001\u8bc1\u636e\u6765\u81ea\u54ea\u91cc\u90fd\u5199\u6e05\u695a\uff0c\u65b9\u4fbf\u533b\u751f\u6838\u5bf9\u3002<\/p>\n\n\n\n<p>\u8be5\u8bba\u6587\u7814\u7a76\u7531\u4e0a\u6d77\u4ea4\u901a\u5927\u5b66\u4eba\u5de5\u667a\u80fd\u5b66\u9662\u5f20\u5a05\uff08Ya Zhang\uff09\u6559\u6388\u3001\u8c22\u4f1f\u8fea\uff08Weidi Xie\uff09\u526f\u6559\u6388\u4e0e\u533b\u5b66\u9662\u9644\u5c5e\u65b0\u534e\u533b\u9662\u5b59\u951f\uff08Kun Sun\uff09\u6559\u6388\u3001\u4f59\u6c38\u56fd\uff08Yongguo Yu\uff09\u6559\u6388\u9886\u8854\uff0c\u534f\u540c\u591a\u65b9\u79d1\u7814\u529b\u91cf\u5171\u540c\u653b\u5173\u5b8c\u6210\u3002<\/p>\n\n\n\n<h5 class=\"wp-block-heading\">1\uff09\u5b83\u600e\u4e48\u5de5\u4f5c\uff1a\u4e09\u5c42\u7ed3\u6784 + \u591a\u667a\u80fd\u4f53\u534f\u4f5c<\/h5>\n\n\n\n<p>DeepRare \u7684\u7ed3\u6784\u53d7 <strong><a href=\"https:\/\/nullthought.net\/?p=5203\" target=\"_blank\" rel=\"noreferrer noopener\">MCP\uff08Model Context Protocol\uff09<\/a><\/strong>\u542f\u53d1\uff0c\u505a\u6210\u4e09\u5c42\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u592e\u4e3b\u63a7\uff08host\uff09<\/strong>\uff1a\u7531\u4e00\u4e2a\u5927\u6a21\u578b\u9a71\u52a8\uff08\u8bba\u6587\u91cc\u9ed8\u8ba4\u672c\u5730\u90e8\u7f72 DeepSeek-V3\uff09\uff0c\u5e26\u201c\u8bb0\u5fc6\u5e93\u201d\uff0c\u8d1f\u8d23\u62c6\u89e3\u4efb\u52a1\u3001\u534f\u8c03\u5404\u4e2a\u52a9\u624b\u3001\u6c47\u603b\u8bc1\u636e\u3001\u751f\u6210\u6700\u7ec8\u5019\u9009\u8bca\u65ad\u3002<\/li>\n\n\n\n<li><strong>\u4e13\u95e8\u7684\u667a\u80fd\u4f53\u670d\u52a1\u5668\uff08agent servers\uff09<\/strong>\uff1a\u6bcf\u4e2a\u670d\u52a1\u5668\u7ba1\u4e00\u7c7b\u80fd\u529b\/\u5de5\u5177\uff0c\u4f8b\u5982\uff1a\n<ul class=\"wp-block-list\">\n<li>\u628a\u75c5\u5386\u81ea\u7531\u6587\u672c\u62bd\u53d6\u6210\u6807\u51c6\u5316\u8868\u578b\uff08\u5982 HPO \u672f\u8bed\uff09<\/li>\n\n\n\n<li>\u5206\u6790\u8868\u578b\uff08\u75c7\u72b6\u7ec4\u5408\u66f4\u50cf\u54ea\u4e9b\u75c5\uff09<\/li>\n\n\n\n<li>\u89c4\u8303\u5316\u75be\u75c5\u540d\u79f0\/ID\uff08\u5bf9\u9f50 OMIM\u3001Orphanet \u7b49\uff09<\/li>\n\n\n\n<li>\u5206\u6790\u57fa\u56e0\u6570\u636e\uff08WES\/VCF\uff09<\/li>\n\n\n\n<li>\u68c0\u7d22\u76f8\u4f3c\u75c5\u4f8b\u3001\u68c0\u7d22\u6587\u732e\/\u6307\u5357\/\u6743\u5a01\u7f51\u7ad9\u8bc1\u636e<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5916\u90e8\u77e5\u8bc6\u4e0e\u5de5\u5177\u5c42<\/strong>\uff1a\u63a5\u5165\u8bba\u6587\u3001\u4e34\u5e8a\u6307\u5357\u3001\u75c5\u4f8b\u5e93\u3001\u9057\u4f20\u53d8\u5f02\u6570\u636e\u5e93\u7b49\u201c\u53ef\u9a8c\u8bc1\u6765\u6e90\u201d\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5b83\u8fd8\u52a0\u4e86\u4e00\u4e2a\u5f88\u5173\u952e\u7684\u673a\u5236\uff1a<strong>\u81ea\u6211\u53cd\u601d\u5faa\u73af\uff08self-reflective loop\uff09<\/strong>\u3002\u7cfb\u7edf\u5148\u7ed9\u51fa\u521d\u6b65\u731c\u6d4b\uff0c\u518d\u4e3b\u52a8\u53bb\u641c\u8bc1\u636e\u201c\u53cd\u9a73\/\u9a8c\u8bc1\u201d\u81ea\u5df1\uff1b\u5982\u679c\u8bc1\u636e\u4e0d\u8db3\u6216\u81ea\u68c0\u4e0d\u8fc7\u5173\uff0c\u5c31\u56de\u5230\u524d\u9762\u7ee7\u7eed\u8865\u4fe1\u606f\u3001\u518d\u63a8\u7406\uff0c\u5c3d\u91cf\u51cf\u5c11\u5927\u6a21\u578b\u5e38\u89c1\u7684\u201c\u778e\u7f16\/\u8fc7\u5ea6\u81ea\u4fe1\u201d\u3002<\/p>\n\n\n\n<h5 class=\"wp-block-heading\">2\uff09\u8f93\u5165\u8f93\u51fa\uff1a\u80fd\u5403\u201c\u6742\u7cae\u201d\uff0c\u5410\u51fa\u201c\u5e26\u8bc1\u636e\u7684Top-K\u201d<\/h5>\n\n\n\n<p>\u4e34\u5e8a\u91cc\u4fe1\u606f\u5f80\u5f80\u662f\u6df7\u6742\u7684\uff0cDeepRare\u652f\u6301\u591a\u79cd\u8f93\u5165\u7ec4\u5408\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u533b\u751f\/\u60a3\u8005\u63cf\u8ff0\u7684<strong>\u81ea\u7531\u6587\u672c<\/strong>\uff08\u4e3b\u8bc9\u3001\u75c5\u53f2\u3001\u4f53\u5f81\uff09<\/li>\n\n\n\n<li>\u7ed3\u6784\u5316\u7684 <strong>HPO \u8868\u578b\u672f\u8bed<\/strong><\/li>\n\n\n\n<li><strong>\u9057\u4f20\u68c0\u6d4b\u7ed3\u679c<\/strong>\uff08WES \u7684 VCF \u6587\u4ef6\u7b49\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u8f93\u51fa\u662f\u4e00\u4e2a<strong>Top-K \u75be\u75c5\u5019\u9009\u5217\u8868<\/strong>\uff08\u8bba\u6587\u91cc\u5e38\u7528 Top-5\uff09\uff0c\u5e76\u4e14\u6bcf\u4e2a\u5019\u9009\u90fd\u9644\u5e26\u4e00\u6761\u201c\u63a8\u7406\u94fe\u201d\uff1a<br>\u201c\u54ea\u4e9b\u75c7\u72b6\u652f\u6301\u8fd9\u4e2a\u75c5 \u2192 \u54ea\u4e9b\u57fa\u56e0\/\u53d8\u5f02\u652f\u6301 \u2192 \u5f15\u7528\u7684\u6587\u732e\/\u6307\u5357\/\u6570\u636e\u5e93\u94fe\u63a5\u662f\u4ec0\u4e48\u201d\u3002\u8fd9\u6837\u533b\u751f\u80fd\u5feb\u901f\u6838\u5bf9\u8bc1\u636e\uff0c\u800c\u4e0d\u662f\u53ea\u5f97\u5230\u4e00\u4e2a\u201c\u9ed1\u76d2\u7b54\u6848\u201d\u3002<\/p>\n\n\n\n<h5 class=\"wp-block-heading\">3\uff09\u600e\u4e48\u8bc4\u6d4b\uff1a\u8de8\u5730\u533a\u3001\u8de8\u4e2d\u5fc3\u3001\u8de8\u4e13\u79d1\u7684\u5927\u89c4\u6a21\u5bf9\u6bd4<\/h5>\n\n\n\n<p>\u4f5c\u8005\u7528 <strong>9\u4e2a\u6570\u636e\u96c6\u30016,401\u4e2a\u771f\u5b9e\/\u516c\u5f00\u75c5\u4f8b<\/strong>\u6765\u6d4b\uff0c\u8986\u76d6\u4e9a\u6d32\u3001\u5317\u7f8e\u3001\u6b27\u6d32\u591a\u4e2a\u4e34\u5e8a\u4e2d\u5fc3\u4e0e\u6765\u6e90\uff0c\u6d89\u53ca <strong>14\u4e2a\u533b\u5b66\u4e13\u79d1<\/strong>\uff0c\u603b\u5171\u8986\u76d6 <strong>2,919\u79cd\u75be\u75c5<\/strong>\u3002\u8bc4\u4f30\u6307\u6807\u4e3b\u8981\u662f <strong>Recall@K<\/strong>\uff1a\u6b63\u786e\u8bca\u65ad\u662f\u5426\u51fa\u73b0\u5728\u524dK\u4e2a\u63a8\u8350\u91cc\uff08\u6bd4\u5982 Recall@1 \u5c31\u662f\u201c\u7b2c\u4e00\u540d\u5c31\u731c\u5bf9\u201d\u7684\u6bd4\u4f8b\uff09\u3002<\/p>\n\n\n\n<p>\u5bf9\u6bd4\u5bf9\u8c61\u5f88\u5168\u9762\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f20\u7edf\u7f55\u89c1\u75c5\u5de5\u5177\uff08\u5982\u57fa\u4e8eHPO\u7684\u68c0\u7d22\/\u5339\u914d\u5de5\u5177\uff09<\/li>\n\n\n\n<li>\u901a\u7528\u5927\u6a21\u578b\u3001\u63a8\u7406\u589e\u5f3a\u5927\u6a21\u578b\u3001\u533b\u5b66\u5fae\u8c03\u6a21\u578b<\/li>\n\n\n\n<li>\u5176\u4ed6\u201c\u667a\u80fd\u4f53\u5f0f\u201d\u7cfb\u7edf<\/li>\n<\/ul>\n\n\n\n<h5 class=\"wp-block-heading\">4\uff09\u4e3b\u8981\u7ed3\u679c\uff1a\u51c6\u786e\u7387\u9ad8\uff0c\u4e14\u5728\u201c\u8868\u578b+\u57fa\u56e0\u201d\u573a\u666f\u7279\u522b\u5f3a<\/h5>\n\n\n\n<p>\u8bba\u6587\u62a5\u544a\u7684\u4eae\u70b9\u53ef\u4ee5\u6293\u4e09\u6761\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u7eafHPO\/\u8868\u578b\u4efb\u52a1\u4e0a\u6574\u4f53\u9886\u5148<\/strong>\uff1a\u5e73\u5747 <strong>Recall@1 \u8fbe\u5230 57.18%<\/strong>\uff0c\u6bd4\u7b2c\u4e8c\u540d\u65b9\u6cd5\u9ad8\u51fa\u7ea6 <strong>23.79%<\/strong>\uff08\u8fd9\u662f\u5f88\u5927\u7684\u5dee\u8ddd\uff09\u3002<\/li>\n\n\n\n<li><strong>\u591a\u6a21\u6001\uff08\u8868\u578b+\u57fa\u56e0\uff09\u66f4\u5f3a<\/strong>\uff1a\u5728\u5e26WES\u6570\u636e\u7684\u5b50\u96c6\u4e0a\uff0cDeepRare <strong>Recall@1 \u8fbe\u5230 69.1%<\/strong>\uff0c\u660e\u663e\u9ad8\u4e8e\u7ecf\u5178\u5de5\u5177 Exomiser\uff0855.9%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8ddf\u4e13\u5bb6\u5bf9\u6bd4\u4e5f\u4e0d\u5f31<\/strong>\uff1a\u5728\u4e00\u7ec4\u771f\u5b9e\u95e8\u8bca\u75c5\u4f8b\u6d4b\u8bd5\u91cc\uff0cDeepRare \u7684 Recall@1\uff0864.4%\uff09\u548c Recall@5\uff0878.5%\uff09\u90fd\u8d85\u8fc7\u4e86\u591a\u4f4d\u8d44\u6df1\u7f55\u89c1\u75c5\u533b\u751f\u7684\u5e73\u5747\u6c34\u5e73\uff08\u533b\u751f\u5141\u8bb8\u7528\u641c\u7d22\u5f15\u64ce\uff0c\u4f46\u4e0d\u80fd\u7528AI\uff09\u3002<\/li>\n<\/ol>\n\n\n\n<h5 class=\"wp-block-heading\">5\uff09\u53ef\u8ffd\u6eaf\u63a8\u7406\uff1a\u533b\u751f\u5ba1\u6838\u201c\u8bc1\u636e\u94fe\u201d\u57fa\u672c\u9760\u8c31<\/h5>\n\n\n\n<p>\u4f5c\u8005\u8bf7\u4e86\u591a\u4f4d\u7f55\u89c1\u75c5\u4e13\u79d1\u533b\u751f\u4eba\u5de5\u68c0\u67e5\u7cfb\u7edf\u8f93\u51fa\u7684\u201c\u5f15\u7528\u4e0e\u63a8\u7406\u94fe\u201d\uff0c\u6574\u4f53<strong>\u4e00\u81f4\u8ba4\u4e3a\u8bc1\u636e\u94fe\u53ef\u9760\u7684\u6bd4\u4f8b\u7ea6 95.4%<\/strong>\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u8fd9\u5957\u7cfb\u7edf\u4e0d\u4ec5\u201c\u731c\u5f97\u51c6\u201d\uff0c\u800c\u4e14\u591a\u6570\u65f6\u5019\u80fd\u628a\u201c\u4e3a\u4ec0\u4e48\u201d\u8bf4\u6e05\u695a\uff0c\u5e76\u628a\u8bc1\u636e\u6307\u5230\u53ef\u6838\u9a8c\u7684\u6765\u6e90\u3002<\/p>\n\n\n\n<p>\u5f53\u7136\u4e5f\u4e0d\u662f\u96f6\u9519\u8bef\uff1a\u533b\u751f\u6307\u51fa\u7684\u9519\u8bef\u4e3b\u8981\u4e24\u7c7b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e7b\u89c9\u5f15\u7528<\/strong>\uff1a\u7cfb\u7edf\u5728\u627e\u4e0d\u5230\u5408\u9002\u8bba\u6587\u94fe\u63a5\u65f6\uff0c\u53ef\u80fd\u751f\u6210\u770b\u4f3c\u771f\u5b9e\u4f46\u5b9e\u9645\u4e0d\u5b58\u5728\u7684URL\u3002<\/li>\n\n\n\n<li><strong>\u5f15\u7528\u4e0d\u76f8\u5173<\/strong>\uff1a\u5982\u679c\u6700\u7ec8\u8bca\u65ad\u65b9\u5411\u672c\u8eab\u9519\u4e86\uff0c\u5f15\u7528\u4e5f\u4f1a\u8ddf\u7740\u504f\u3002<\/li>\n<\/ul>\n\n\n\n<h5 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