{"id":9191,"date":"2019-11-08T12:49:43","date_gmt":"2019-11-08T04:49:43","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&#038;mid=100011763&#038;idx=1&#038;sn=99b0678365823ddfdb64f54320ff6a13&#038;chksm=6b715c445c06d5521ac10915a4e24aa47e50489614edcaaa8fefec209e34b1e5acfa2aadd0d8#rd"},"modified":"2026-04-08T10:09:16","modified_gmt":"2026-04-08T02:09:16","slug":"499851","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2019\/11\/08\/499851\/","title":{"rendered":"\u764c\u75c7\u53ca\u7f55\u89c1\u75c5\u60a3\u8005\u5982\u4f55\u4ece\u57fa\u56e0\u7ec4\u8ba1\u5212\u83b7\u76ca\uff1fGenomics England\u7ed9\u6211\u4eec\u7684\u542f\u793a"},"content":{"rendered":"<p><!-- wechat_content_hash: 1b3c3b41d88dacc6 --><\/p>\n<div>\u57fa\u56e0\u7ec4\u8ba1\u5212\u5982\u4f55\u5e2e\u52a9\u764c\u75c7\u53ca\u7f55\u89c1\u75c5\u60a3\u8005\uff1f\u4e3b\u5bfc\u82f1\u56fd10\u4e07\u4eba\u57fa\u56e0\u7ec4\u8ba1\u5212\u7684Genomics 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Ridout\uff09\u535a\u58eb\u5206\u4eab\u4e86\u5979\u662f\u5982\u4f55\u4f7f\u7528100,000\u4e2a\u57fa\u56e0\u7ec4\u8ba1\u5212\u7684\u6570\u636e\u5c06\u6162\u6027\u6dcb\u5df4\u7ec6\u80de\u6027\u767d\u8840\u75c5\uff08CLL\uff09\u60a3\u8005\u5206\u4e3a\u56db\u4e2a\u4e0d\u540c\u7684\u98ce\u9669\u7ec4\u3002\u8fd9\u4e9b\u53d1\u73b0\u53ef\u4ee5\u786e\u4fddCLL\u60a3\u8005\u6309\u7167\u5176\u75be\u75c5\u4e9a\u578b\u8fdb\u884c\u6700\u4f73\u4e34\u5e8a\u8bd5\u9a8c\u3002\u00a0<\/div>\n<div>\u800c\u4e2a\u6027\u5316\u7684\u764c\u75c7\u6cbb\u7597\u836f\u7269\u6a21\u578b\uff0c\u6b63\u662f\u57fa\u4e8e\u764c\u75c7\u4e9a\u578b\uff0c\u786e\u4fdd\u60a3\u8005\u83b7\u5f97\u9488\u5bf9\u6027\u7684\u3001\u6700\u6709\u6548\u7684\u6cbb\u7597\u3002<\/div>\n<div>\u51ef\u8482\u00b7\u91cc\u675c\u7279\u535a\u58eb\u4ece488\u540dCLL\u60a3\u8005\u4e2d\u6536\u96c6\u4e86\u80bf\u7624\u548c\u80da\u7cfb\u9057\u4f20\u6837\u54c1\u3002\u7528\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u9274\u5b9a\u53ef\u80fd\u5f71\u54cd\u75be\u75c5\u9884\u540e\u7684\u9057\u4f20\u6807\u8bb0\uff0c\u5305\u62ec\u7a81\u53d8\u8d1f\u62c5\uff0c\u62f7\u8d1d\u6570\u7a81\u53d8\u548c\u7aef\u7c92\u957f\u5ea6\u3002\u7528\u201c\u975e\u8d1f\u77e9\u9635\u5206\u89e3(non-negative matrix factorisation)\u2014\u2014\u4e00\u79cd\u6570\u5b66\u6a21\u578b\u2014\u2014\u6765\u6839\u636e\u60a3\u8005\u7684\u75be\u75c5\u57fa\u56e0\u7ec4\u6982\u51b5\u5c06\u5176\u5206\u4e3a\u56db\u7c7b\u3002\u7531\u4e8e\u540c\u4e00\u7ec4\u60a3\u8005\u5bf9\u4ed6\u4eec\u7684\u75be\u75c5\u5177\u6709\u76f8\u4f3c\u7684\u9884\u540e\u9884\u6d4b\uff0c\u8bc6\u522b\u60a3\u8005\u98ce\u9669\u53ef\u7528\u4e8e\u6307\u5bfc\u6cbb\u7597\u51b3\u7b56\u3002\u00a0<\/div>\n<div>\u51ef\u8482\u00b7\u91cc\u675c\u7279\u535a\u58eb\u89e3\u91ca\u8bf4\uff0c\u5982\u679c\u5df2\u77e5\u764c\u75c7\u7684\u9057\u4f20\u7279\u5f81\uff0c\u90a3\u4e48\u8be5\u77e9\u9635\u6a21\u578b\u53ef\u4ee5\u9002\u7528\u4e8e\u5bf9\u4e0d\u540c\u764c\u75c7\u7684\u60a3\u8005\u8fdb\u884c\u5206\u5c42\u3002<\/div>\n<div>\u00a0<\/div>\n<div>10\u4e07\u4eba\u57fa\u56e0\u7ec4\u8ba1\u5212\u7684\u53c2\u4e0e\u8005\u8981\u6c42\u83b7\u5f97\u6b21\u8981\u53d1\u73b0<\/div>\n<div>100,000\u4e2a\u57fa\u56e0\u7ec4\u8ba1\u5212\u7684\u6240\u6709\u53c2\u4e0e\u8005\u90fd\u60a3\u6709\u6000\u7591\u7684\u7f55\u89c1\u9057\u4f20\u75c5\u6216\u764c\u75c7\u3002\u5bf9\u4e8e\u7f55\u89c1\u75c5\u60a3\u8005\uff0c\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u53ef\u63d0\u4f9b\u8bca\u65ad\u5e76\u8c03\u67e5\u5176\u75be\u75c5\u7684\u9057\u4f20\u57fa\u7840\u3002\u4f46\u662f\uff0c\u9664\u4e86\u63d0\u4f9b\u5bf9\u7f55\u89c1\u75be\u75c5\u7684\u8bca\u65ad\u5916\uff0c\u6d4b\u5e8f\u6709\u65f6\u8fd8\u4f1a\u5f15\u53d1\u5176\u4ed6\u4e0e\u5065\u5eb7\u76f8\u5173\u7684\u89c1\u89e3\u3002\u8fd9\u4e9b\u53ef\u80fd\u5305\u62ec\u53d1\u73b0\u60a3\u8005\u4f1a\u589e\u52a0\u4ed6\u4eec\u7684\u764c\u75c7\u98ce\u9669\u6216\u4f7f\u4ed6\u4eec\u5bb9\u6613\u60a3\u9ad8\u80c6\u56fa\u9187\u7684\u53d8\u5f02\u3002\u00a0<\/div>\n<div>\u00a0<\/div>\n<div>\u4f26\u6566\u5927\u5b66\u5b66\u9662\u7684\u8428\u65af\u57fa\u4e9a\u00b7\u6851\u5fb7\u68ee\uff08Saskia Sanderson\uff09\u4ecb\u7ecd\u5979\u7684\u7814\u7a76\u65f6\u63d0\u51fa\u4e86\u4e00\u4e2a\u95ee\u9898\uff0c\u662f\u5426\u8981\u5c06\u8c03\u67e5\u6240\u5f97\u7684\u8fd9\u4e9b\u6b21\u8981\u53d1\u73b0\u4f20\u8fbe\u7ed9100,000\u4e2a\u57fa\u56e0\u7ec4\u8ba1\u5212\u7684\u53c2\u4e0e\u8005\uff0c\u53c8\u5982\u4f55\u4f20\u8fbe\u3002\u5979\u4e3b\u6301\u4e86\u8be5\u95ee\u9898\u7684\u4e3b\u8981\u5229\u76ca\u76f8\u5173\u8005\u7684\u7814\u8ba8\u4f1a\uff0c\u5305\u62ec\u60a3\u8005\u3001\u533b\u7597\u4fdd\u5065\u4e13\u4e1a\u4eba\u5458\u3001\u653f\u7b56\u5236\u5b9a\u8005\u548c\u7814\u7a76\u4eba\u5458\uff0c\u6536\u96c6\u6b21\u8981\u53d1\u73b0\u7684\u6311\u6218\u548c\u673a\u9047\u7684\u60f3\u6cd5\u548c\u89c1\u89e3\u7684\u76f8\u5173\u62a5\u544a\u3002\u00a0<\/div>\n<div>\u00a0<\/div>\n<div>100,000\u4e2a\u57fa\u56e0\u7ec4\u8ba1\u5212\u7684\u8bb8\u591a\u60a3\u8005\u53c2\u4e0e\u8005\u8868\u793a\uff0c\u65e0\u8bba\u7ed3\u679c\u5982\u4f55\uff0c\u4ed6\u4eec\u90fd\u5e0c\u671b\u5c06\u6b21\u8981\u53d1\u73b0\u53cd\u9988\u7ed9\u4ed6\u4eec\u3002\u4f46\u662f\uff0c\u4ed6\u4eec\u8868\u793a\u5728\u52a0\u5165\u8be5\u9879\u76ee\u4e4b\u524d\uff0c\u5e76\u672a\u88ab\u660e\u786e\u544a\u77e5\u6709\u6b21\u8981\u53d1\u73b0\u7684\u53ef\u80fd\u6027\uff0c\u8fd9\u5f15\u8d77\u4e86\u5bf9\u60a3\u8005\u77e5\u60c5\u540c\u610f\u7684\u62c5\u5fe7\u3002\u4e34\u5e8a\u533b\u751f\u8bf4\uff0c\u5728\u4e0d\u4e86\u89e3\u5bb6\u65cf\u75c5\u53f2\u7684\u60c5\u51b5\u4e0b\u5f88\u96be\u89e3\u91ca\u53d1\u73b0\u7ee7\u53d1\u6027\u53d8\u4f53\u7684\u98ce\u9669\uff0c\u56e0\u6b64\u5fc5\u987b\u9075\u5faa\u6700\u4f73\u5b9e\u8df5\u7a0b\u5e8f\uff0c\u5411\u60a3\u8005\u51c6\u786e\u5448\u73b0\u98ce\u9669\u6c34\u5e73\u3002\u8be5\u7814\u7a76\u5f3a\u8c03\u4e86\u8ba9\u60a3\u8005\u53c2\u4e0e\u5927\u89c4\u6a21\u57fa\u56e0\u7814\u7a76\u9879\u76ee\u7684\u91cd\u8981\u6027\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u6d4b\u5e8f\u6280\u672f\u4e3a\u7f55\u89c1\u75c5\u7b49\u533b\u7597\u670d\u52a1\u7684\u6210\u672c\u8282\u7701<\/div>\n<div>\u4e3a\u4e86\u652f\u6301\u5c06\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u670d\u52a1\u5b9e\u65bd\u5230NHS\u7b49\u533b\u7597\u4fdd\u5065\u63d0\u4f9b\u8005\u4e2d\uff0c\u5fc5\u987b\u8bc4\u4f30\u6b64\u7c7b\u63aa\u65bd\u7684\u6210\u672c\u6548\u76ca\u3002100,000\u4e2a\u57fa\u56e0\u7ec4\u8ba1\u5212\u5305\u542b\u5927\u91cf\u60a3\u6709\u7f55\u89c1\u9057\u4f20\u75be\u75c5\u7684\u60a3\u8005\uff0c\u4ed6\u4eec\u5e38\u5e38\u4e3a\u4e86\u83b7\u5f97\u8bca\u65ad\u800c\u8fdb\u884c\u4e86\u957f\u65f6\u95f4\u7684\u52aa\u529b\u3002\u5728\u6b64\u671f\u95f4\uff0c\u7f55\u89c1\u75c5\u60a3\u8005\u53ef\u80fd\u9700\u8981\u7d27\u6025\u62a4\u7406\uff0c\u591a\u6b21\u770b\u533b\u751f\u6216\u8005\u6ca1\u6709\u957f\u671f\u76ca\u5904\u7684\u836f\u7269\uff0c\u800c\u8fd9\u4e00\u5207\u90fd\u9700\u8981\u82b1\u8d39\u5927\u91cf\u7684\u533b\u7597\u670d\u52a1\u8d39\u7528\u3002\u56e0\u6b64\uff0c\u5c3d\u7ba1\u5bf9\u7f55\u89c1\u75c5\u60a3\u8005\u8fdb\u884c\u6d4b\u5e8f\u7684\u6210\u672c\u975e\u5e38\u9ad8\uff0c\u4f46\u662f\u7f29\u77ed\u8bca\u65ad\u65f6\u95f4\u53ef\u4ee5\u5f25\u8865\u533b\u7597\u6210\u672c\u3002\u00a0<\/div>\n<div>\u00a0<\/div>\n<div>\u725b\u6d25\u5927\u5b66\u7684\u8a79\u59c6\u65af\u00b7\u5e03\u574e\u5357\uff08James Buchanan\uff09\u535a\u58eb\u5728\u6f14\u8bb2\u4e2d\u4ecb\u7ecd\u4e86\u5982\u4f55\u8ba1\u7b97100,000\u4e2a\u57fa\u56e0\u7ec4\u8ba1\u5212\u4e2d\u7684\u7f55\u89c1\u75c5\u60a3\u8005\u7684\u533b\u7597\u8d39\u7528\uff0c\u4ed6\u9884\u4f30\u4f7f\u7528\u6d4b\u5e8f\u6280\u672f\u8fdb\u884c\u65e9\u671f\u8bca\u65ad\u53ef\u4ee5\u4e3a\u533b\u7597\u670d\u52a1\u5e26\u6765\u7684\u8282\u7701\u3002\u00a0\u9274\u4e8eNHS\u7684\u9884\u7b97\u5df2\u7ecf\u975e\u5e38\u7d27\u5f20\uff0c\u56e0\u6b64\u5fc5\u987b\u4ee5\u6700\u6709\u6548\u7684\u65b9\u5f0f\u5c06\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u6280\u672f\u5e94\u7528\u4e8e\u533b\u7597\u4fdd\u5065\u670d\u52a1\uff0c\u4ece\u800c\u8ba9\u60a3\u8005\u65e0\u9700\u652f\u4ed8\u5929\u6587\u6570\u5b57\u7684\u533b\u7597\u8d39\u7528\uff0c\u8fd9\u4e00\u70b9\u975e\u5e38\u91cd\u8981\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u7cbe\u51c6\u533b\u5b66\u7684\u6700\u5927\u74f6\u9888\u662f\u53ef\u7528\u7597\u6cd5\u6709\u9650<\/div>\n<div>\u54e5\u4f26\u6bd4\u4e9a\u5927\u5b66\u7684\u6234\u7ef4\u00b7\u6208\u5fb7\u65af\u5766\uff08David Goldstein\uff09\u4ecb\u7ecd\u4e86\u4ed6\u6240\u9886\u5bfc\u6216\u53c2\u4e0e\u7684\u7cbe\u51c6\u533b\u5b66\u5de5\u4f5c\u3002\u4ed6\u8ba4\u4e3a\uff0c\u963b\u788d\u4e86\u7cbe\u51c6\u533b\u5b66\u53d1\u5c55\u7684\u6cbb\u7597\u6027\u50f5\u5c40\u5c31\u663e\u5f97\u5341\u5206\u4e25\u5cfb\u3002\u6b63\u5982\u4ed6\u6240\u8bf4\uff0c\u201c\u6211\u4eec\u5728\u60a3\u8005\u8eab\u4e0a\u627e\u52304000\u4e2a\u5df2\u77e5\u57fa\u56e0\u4e2d\u7684\u4e00\u4e2a\uff08\u75be\u75c5\u5173\u8054\uff09\u57fa\u56e0\uff0c\u57fa\u56e0\u4e2d\u7684\u4e00\u4e2a\u7a81\u53d8\u5c31\u4f1a\u5bfc\u81f4\u5b5f\u5fb7\u5c14\u75be\u75c5\u3002\u4f46\u6211\u4eec\u6709\u591a\u5c11\u79cd\u6709\u6548\u7684\u6cbb\u7597\u65b9\u6cd5\u5462\uff1f\u4e0d\u8c08\u51e0\u767e\u4e2a\uff0c\u53ea\u5728\u5341\u7684\u6570\u91cf\u7ea7\u4e0a\u3002\u201d<\/div>\n<div>\u00a0<\/div>\n<div>\u57fa\u56e0\u7ec4\u5b66\u4e3a\u65b0\u836f\u7814\u53d1\u7684\u5371\u673a\u63d0\u4f9b\u4e86\u89e3\u51b3\u65b9\u6848<\/div>\n<div>\u5173\u4e8e\u4e0a\u8ff0\u5b66\u8005\u7684\u89c2\u70b9\uff0cUCB\u7684\u9057\u4f20\u4e3b\u7ba1\u897f\u4e9a\u62c9\u00b7\u65fa\u6770\u5229\uff08Ciara Vangjeli\uff09\u6070\u5de7\u505a\u4e86\u56de\u5e94\uff0c\u4ed6\u544a\u8beb\u533b\u836f\u4ece\u4e1a\u8005\uff0c\u5236\u836f\u884c\u4e1a\u6b63\u5904\u4e8e\u5371\u673a\u4e4b\u4e2d\u3002\u4f46\u5982\u679c\u60a8\u7684\u65b0\u836f\u8ba1\u5212\u4e2d\u6709\u652f\u6301\u4eba\u7c7b\u9057\u4f20\u5b66\u7684\u8bc1\u636e\uff0c\u90a3\u4e48\u60a8\u7684\u836f\u7269\u6210\u529f\u7684\u53ef\u80fd\u6027\u4f1a\u63d0\u9ad8\u5230\u4e24\u500d\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u53c2\u8003\u8d44\u6599\uff1a\u00a0<\/div>\n<div>1)http:\/\/www.frontlinegenomics.com\/news\/28102\/research-highlights-from-the-genomics-england-conference\/\u00a0<\/div>\n<div>2)http:\/\/www.frontlinegenomics.com\/news\/28092\/key-takeaways-from-genomics-england-research-conference\/\u00a0<\/div>\n<div>3)https:\/\/www.ukbiobank.ac.uk\/2019\/07\/whole-genome-imputation-of-uk-biobank-participants-in-partnership-with-genomics-england\/<\/div>\n<div>\u00a0<\/div>\n<div>\u00a0\u62d3\u5c55\u9605\u8bfb\u00a0<\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247495410&amp;idx=1&amp;sn=d5428c68811c72e17183a1e2862b64fa&amp;chksm=eb715c45dc06d553d8251c2a1ec708caf147d5622304b13ff30457d445c65cb8fc6637ba03a9&amp;scene=21#wechat_redirect\">2019\u4e2d\u56fd\u80bf\u7624\u6807\u5fd7\u7269\u5b66\u672f\u5927\u4f1a<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247494678&amp;idx=1&amp;sn=fab222c7b1c58882208b83cb68c2b3f7&amp;chksm=eb715ea1dc06d7b77840b7730bb9543ab015eb1a85890346dc5e9b57e0e2b0fabd5750634b76&amp;scene=21#wechat_redirect\">\u5341\u5e74\u540e\u6700\u8d35\u7684\u5962\u4f88\u54c1<\/a><\/div>\n<div>\u00a0<\/div>\n<div>\u00a0\u52a0\u5165\u8bfb\u8005\u7fa4\/\u5408\u4f5c\u00a0<\/div>\n<div>\u6dfb\u52a0\u5fae\u4fe1 jiyinhui_1\uff08\u53e3\u4ee4\uff1a\u5355\u4f4d-\u804c\u4f4d-\u59d3\u540d\uff09<\/div>\n<div>\uff08\u901a\u8fc7\u540e\u8bf7\u8d50\u540d\u7247\uff09<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgDwDDlibn6LGMERd60A1XgibkVTEVrPEb1EoTK1HnjticKMtrzWS4eyuZgibs4H2ErBL6cp0GRTKvEAkg.jpeg\" alt=\"RmFicvQBAkgDwDDlibn6LGMERd60A1XgibkVTEVrPEb1EoTK1HnjticKMtrzWS4eyuZgibs4H2ErBL6cp0GRTKvEAkg\"\/><\/figure><\/div>","protected":false},"excerpt":{"rendered":"<p>\u5fae\u751f\u7269\u7528\u4e8e\u764c\u75c7\u7b5b\u67e5\u3001\u764c\u75c7\u5206\u578b\u3001\u7f55\u89c1\u75c5\u533b\u7597\u670d\u52a1\u7b49<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[1532,1469],"class_list":["post-9191","post","type-post","status-publish","format-standard","hentry","category-industryresearch","tag-1532","tag-1469"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9191","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/comments?post=9191"}],"version-history":[{"count":3,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9191\/revisions"}],"predecessor-version":[{"id":13904,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/9191\/revisions\/13904"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=9191"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=9191"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=9191"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}