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Feinberg 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CGTA\u57fa\u56e0\u68c0\u6d4b\u4e3b\u4efb\u8054\u76df\uff0c\u4ee5\u671f\u5171\u540c\u63a2\u8ba8\u5982\u4f55\u63d0\u4f9b\u9ad8\u8d28\u91cf\u57fa\u56e0\u68c0\u6d4b\u670d\u52a1\uff0c\u63a8\u52a8\u57fa\u56e0\u4ea7\u4e1a\u7684\u5065\u5eb7\u53d1\u5c55\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>\u5218\u7231\u971e\uff08\u6d59\u5927\u5987\u4ea7\u79d1\u533b\u9662\uff09<\/p>\n<p>\u7ed3\u8bc6\u6c6a\u603b\u662f\u5076\u7136\u3002\u6570\u5e74\u524d\u5728\u9057\u4f20\u76f8\u5173\u7684\u4e00\u4e2a\u6d3b\u52a8\u4e0a\u8ba4\u8bc6\u3002\u5076\u5c14\u7ffb\u9605\u4fe1\u606f\uff0c\u53d1\u73b0\u6c6a\u603b\u7684\u60c5\u6000\u6587\u5b57\u548c\u80cc\u7740\u624b\u3001\u4fa7\u7740\u8eab\u7684\u5fae\u7b11\uff0c\u4ee5\u53ca\u5076\u5c14\u7ed9\u4f60\u8c08\u57fa\u56e0\u884c\u4e1a\u91cd\u8981\u4e8b\u4ef6\u548c\u5bf9\u751f\u6d3b\u7684\u601d\u8003\uff0c\u8fd9\u4e8c\u8005\u4ea4\u53c9\u76d8\u65cb\u7684\u6e29\u5ea6\uff0c\u53ef\u4ee5\u770b\u51fa\u90a3\u5b58\u653e\u5728\u8584\u8584\u8eab\u4f53\u91cc\u7684\u4e00\u7247\u51b0\u5fc3\u3002<\/p>\n<p>2023\u5e74\uff0c\u6211\u4eec\u5728\u4e4c\u9c81\u6728\u9f50\u3001\u676d\u5dde\u4e0e\u4e1a\u5185\u670b\u53cb\u4e00\u8d77\u76f8\u805a\uff0c\u76f8\u8c08\u751a\u6b22\uff0c\u8a00\u8bed\u4e0d\u591a\uff0c\u5374\u6709\u76f8\u77e5\u7684\u611f\u53d7\uff0c\u4e5f\u8ba9\u6211\u611f\u6000\u548c\u6fc0\u52a8\u3002\u5728\u793e\u4f1a\u53d1\u5c55\u7684\u6d2a\u6d41\u4e2d\uff0c\u89c1\u8bc1\u7740\u4e00\u8fb9\u5f15\u542d\u9ad8\u6b4c\u3001\u4e00\u8fb9\u5728\u6bc5\u884c\u7684\u6c6a\u603b\u4eec\uff0c\u8d70\u5728\u4ed6\u4eec\u575a\u6301\u548c\u575a\u4fe1\u7684\u8dd1\u9053\u4e0a\u3002\u795d\u8dd1\u9053\u7ec8\u662f\u5927\u9053\uff0c\u94fe\u63a5\u6c11\u4f17\uff0c\u60e0\u53ca\u767e\u59d3\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>\u5f20\u6587\u5e9a\uff08\u56db\u5ddd\u5927\u5b66\u534e\u897f\u533b\u9662\u7cbe\u51c6\u533b\u5b66\u4e2d\u5fc3\u7814\u7a76\u5458\u3001\u7cbe\u51c6\u533b\u5b66\u56db\u5ddd\u7701\u91cd\u70b9\u5b9e\u9a8c\u5ba4\u526f\u4e3b\u4efb \uff09<\/p>\n<p>2023\u5e74\uff0c\u4eba\u7c7bY\u67d3\u8272\u4f53\u5b8c\u6574\u5e8f\u5217\u7684\u5b8c\u6210\u548c\u65e8\u5728\u7ed8\u5236\u4eba\u7c7b\u9057\u4f20\u53d8\u5f02\u6574\u4f53\u5206\u5e03\u56fe\u7684\u6cdb\u57fa\u56e0\u7ec4\u8349\u56fe\u7684\u53d1\u8868\uff0c\u586b\u8865\u4e86\u4eba\u7c7b\u57fa\u56e0\u7ec4\u9879\u76ee\u7559\u4e0b\u7684\u7a7a\u767d\u3002UK Biobank\u516c\u5e03\u4e8650\u4e07\u4eba\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u65b0\u6570\u636e\uff0c\u4eba\u5de5\u667a\u80fd\u6a21\u578bAlphaMissense\u9884\u6d4b\u4e8619233\u4e2a\u4eba\u7c7b\u86cb\u767d\u8d28\u7f16\u7801\u57fa\u56e0\u76847100\u4e07\u4e2a\u9519\u4e49\u7a81\u53d8\u3002\u5fc5\u5c06\u8fdb\u4e00\u6b65\u63a8\u52a8\u57fa\u56e0\u884c\u4e1a\u548c\u4e2a\u4f53\u5316\u533b\u5b66\u7684\u53d1\u5c55\u3002\u7f8e\u56fd\u56fd\u5bb6\u764c\u75c7\u7814\u7a76\u6240\u542f\u52a8\u591a\u764c\u80bf\u65e9\u7b5b\u4ea7\u54c1\u6027\u80fd\u9a8c\u8bc1\uff0cFDA\u6279\u51c6\u9996\u4e2a\u9057\u4f20\u6027\u80bf\u7624\u57fa\u56e0\u68c0\u6d4b\u4ea7\u54c1\u3001\u5f81\u6c42\u591a\u764c\u75c7\u68c0\u6d4b\u4ea7\u54c1\u610f\u89c1\uff0c\u4e3a\u57fa\u56e0\u68c0\u6d4b\u5728\u80bf\u7624\u9884\u9632\u4e0e\u65e9\u7b5b\u65e9\u8bca\u9886\u57df\u7684\u5e94\u7528\u5e26\u6765\u65b0\u673a\u9047\u3002\u57fa\u56e0\u68c0\u6d4b\u884c\u4e1a\u6e10\u8d8b\u6210\u719f\uff0c\u80bf\u7624\u548c\u5fae\u751f\u7269\u57fa\u56e0\u68c0\u6d4b\u4e34\u5e8a\u5e94\u7528\u65e5\u76ca\u589e\u591a\uff0c\u9057\u4f20\u6027\u75be\u75c5\u3001\u80bf\u7624\u65e9\u7b5b\u65e9\u8bca\u4ea7\u54c1\u5f00\u59cb\u4e34\u5e8a\u5e94\u7528\u3002\u00a0<\/p>\n<p>2024\u5e74\uff0c\u57fa\u56e0\u68c0\u6d4b\u5e94\u7528\u8303\u56f4\u548c\u9886\u57df\u6301\u7eed\u6269\u5927\uff1b\u4f01\u4e1a\u6574\u5408\u548c\u4ea7\u4e1a\u94fe\u878d\u5408\u52a0\u901f\uff1b\u4eba\u5de5\u667a\u80fd\u63a8\u52a8\u6570\u636e\u7ba1\u7406\u4e0e\u5206\u6790\uff1b\u80bf\u7624\u65e9\u7b5b\u65e9\u8bca\u4ea7\u54c1\u7814\u53d1\u589e\u52a0\uff1b\u57fa\u56e0\u68c0\u6d4b\u5728\u75be\u75c5\u9884\u9632\u548c\u5065\u5eb7\u7ba1\u7406\u4e2d\u7684\u5e94\u7528\u53ef\u80fd\u6210\u4e3a\u65b0\u70ed\u70b9\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>\u9646\u5143\u5fd7\uff08\u66a8\u5357\u5927\u5b66\u9644\u5c5e\u7b2c\u4e00\u533b\u9662\u75c5 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\u521b\u59cb\u4eba\uff09<\/p>\n<p>\u6b63\u5982DNA\u662f\u4e00\u6761\u53cc\u87ba\u65cb\u7ed3\u6784\uff0c2023\u5e74\u7684\u57fa\u56e0\u884c\u4e1a\u4e5f\u5728\u87ba\u65cb\u4e2d\u53d1\u5c55\uff0c\u6709\u4e0a\u5347\u3001\u6709\u4e0b\u843d\u3001\u6709\u5f98\u5f8a\uff0c\u4f46\u7ec8\u4e8e\u89e6\u5e95\u5e76\u5f00\u59cb\u53cd\u5f39\uff0c\u8d70\u5411\u4e00\u6761\u901a\u5411\u65b0\u751f\u547d\u4e4b\u8def\uff01\u653e\u5728\u767e\u5e74\u672a\u6709\u4e4b\u5927\u53d8\u5c40\u7684\u5927\u80cc\u666f\u4e0b\uff0c\u4e00\u5207\u632b\u6298\u3001\u78e8\u96be\uff0c\u90fd\u53ea\u4f1a\u4f7f\u6211\u4eec\u66f4\u5f3a\u5927\u3001\u66f4\u575a\u97e7\u30022024\u5e74\uff0c\u5eb7\u7acb\u660e\u751f\u7269\u795d\u613f\u4e1a\u754c\u540c\u4ec1\u5fc3\u4e2d\u6709\u7231\u3001\u773c\u91cc\u6709\u5149\u3001\u624b\u4e0a\u6709\u6d3b\u3001\u811a\u4e0b\u6709\u8def\uff0c\u4e00\u8d77\u575a\u5b9a\u5730\u671d\u7740\u87ba\u65cb\u5ef6\u4f38\u7684\u672a\u6765\u524d\u8fdb\uff01<\/p>\n<p>&nbsp;<\/p>\n<p>\u5218\u5fd7\u5ca9\uff08\u661f\u4e91\u57fa\u56e0 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