{"id":55646,"date":"2018-09-26T01:00:00","date_gmt":"2018-09-30T02:07:13","guid":{"rendered":"http:\/\/www.05921.net\/index.php\/2018\/09\/30\/brca1%e5%9f%ba%e5%9b%a0%e5%8f%98%e5%bc%82%e8%87%b4%e7%99%8c%e9%a3%8e%e9%99%a9%e5%88%86%e6%9e%90%e5%87%ba%e7%82%89\/"},"modified":"2018-09-30T10:07:14","modified_gmt":"2018-09-30T02:07:14","slug":"brca1%e5%9f%ba%e5%9b%a0%e5%8f%98%e5%bc%82%e8%87%b4%e7%99%8c%e9%a3%8e%e9%99%a9%e5%88%86%e6%9e%90%e5%87%ba%e7%82%89","status":"publish","type":"post","link":"https:\/\/www.05921.net\/index.php\/55646\/","title":{"rendered":"BRCA1\u57fa\u56e0\u53d8\u5f02\u81f4\u764c\u98ce\u9669\u5206\u6790\u51fa\u7089"},"content":{"rendered":"
\n

\"BRCA1\u57fa\u56e0\u53d8\u5f02\u81f4\u764c\u98ce\u9669\u5206\u6790\u51fa\u7089\"<\/p>\n

\u300a\u81ea\u7136\u300b9\u670813\u65e5\u5728\u7ebf\u53d1\u8868\u7684\u4e00\u7bc7\u8bba\u6587Accurate classification of BRCA1 variants with saturation genome editing<\/strong>\u5bf9\u6570\u5343\u79cdBRCA1\u7684\u57fa\u56e0\u53d8\u5f02\u6309\u529f\u80fd\u8fdb\u884c\u4e86\u66f4\u7cbe\u786e\u7684\u5206\u7c7b\u3002\u8fd9\u4e9b\u529f\u80fd\u8bc4\u5206\u5bf9\u4e73\u817a\u764c\u548c\u5375\u5de2\u764c\u7f79\u60a3\u98ce\u9669\u7684\u57fa\u56e0\u68c0\u6d4b\u89e3\u8bfb\u6216\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u3002<\/strong><\/span><\/p>\n

\"BRCA1\u57fa\u56e0\u53d8\u5f02\u81f4\u764c\u98ce\u9669\u5206\u6790\u51fa\u7089\"<\/p>\n

<\/span><\/p>\n

\u7f8e\u56fd\u79d1\u5b66\u5bb6\u56e2\u961f\u5bf9\u6570\u5343\u79cdBRCA1\u57fa\u56e0\u53d8\u5f02\u6309\u529f\u80fd\u8fdb\u884c\u4e86\u524d\u6240\u672a\u6709\u7684\u7cbe\u786e\u5206\u7c7b\uff0c\u62a5\u544a\u4e86BRCA1\u57fa\u56e0\u53d8\u5f02\u7684\u81f4\u764c\u98ce\u9669\u5206\u6790\u7ed3\u679c\u3002\u8fd9\u6b21\u201c\u529f\u80fd\u8bc4\u5206\u201d\uff0c\u5bf9\u7b5b\u67e5\u4e73\u817a\u764c\u548c\u5375\u5de2\u764c\u60a3\u75c5\u98ce\u9669\u7684\u57fa\u56e0\u68c0\u6d4b\u89e3\u8bfb\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u3002<\/span><\/p>\n

BRCA1\u662f\u4e00\u79cd\u4eba\u4f53\u80bf\u7624\u6291\u5236\u57fa\u56e0\uff0c\u8d1f\u8d23\u7ef4\u6301\u7ec6\u80de\u57fa\u56e0\u7ec4\u7684\u7a33\u5b9a\u6027\uff0c\u9632\u6b62\u8c03\u63a7\u7ec6\u80de\u589e\u6b96\u548c\u80bf\u7624\u751f\u957f\u7684\u57fa\u56e0\u7a81\u53d8\u53d1\u751f\u79ef\u7d2f\u3002\u800cBRCA1\u5931\u53bb\u529f\u80fd\u7684\u7a81\u53d8\uff0c\u88ab\u8ba4\u4e3a\u4e0e\u6613\u60a3\u65e9\u53d1\u578b\u4e73\u817a\u764c\u548c\u5375\u5de2\u764c\u6709\u5173\u3002\u622a\u81f3\u76ee\u524d\uff0c\u867d\u7136\u5df2\u53d1\u73b0\u7684BRCA1\u57fa\u56e0\u53d8\u5f02\u6709\u6570\u5343\u79cd\uff0c\u4f46\u8bb8\u591a\u90fd\u88ab\u5217\u4e3a\u201c\u610f\u4e49\u672a\u660e\u7684\u53d8\u5f02\u201d\uff0c\u7ed9\u4eba\u7c7b\u60a3\u764c\u98ce\u9669\u7684\u8bc4\u4f30\u5e26\u6765\u4e86\u5de8\u5927\u6311\u6218\u3002<\/span><\/p>\n

\u8981\u5f04\u6e05\u8fd9\u4e9b\u610f\u4e49\u672a\u660e\u7684\u53d8\u5f02\uff0c\u5176\u4e2d\u4e00\u4e2a\u65b9\u6cd5\u662f\u68c0\u6d4b\u53d8\u5f02\u57fa\u56e0\u7684\u8868\u8fbe\u662f\u5426\u5177\u6709\u6062\u590dDNA\u4fee\u590d\u7684\u529f\u80fd\uff0c\u8fd9\u4e5f\u662f\u80bf\u7624\u6291\u5236\u8fc7\u7a0b\u7684\u4e00\u90e8\u5206\u3002\u9274\u4e8e\u6b64\uff0c\u534e\u76db\u987f\u5927\u5b66\u7814\u7a76\u4eba\u5458\u6770\u00b7\u7533\u5fb7\u9c81\u53ca\u540c\u4e8b\uff0c\u8fd0\u7528\u57fa\u56e0\u7ec4\u7f16\u8f91\u6280\u672f\uff0c\u5bf9BRCA1\u57fa\u56e0\u529f\u80fd\u81f3\u5173\u91cd\u8981\u768413\u4e2a\u5916\u663e\u5b50\u4e0a\u7684\u8fd14000\u79cd\u5355\u6838\u82f7\u9178\u53d8\u5f02\uff08SNV\uff09\u7684\u529f\u80fd\u8fdb\u884c\u4e86\u8bc4\u4f30\uff0c\u5e76\u57282000\u4e07\u4e2a\u4eba\u7c7b\u5355\u500d\u4f53\uff08HAP1\uff09\u7ec6\u80de\u4e2d\u8fdb\u884c\u4e86\u540e\u7eed\u7ec6\u80de\u5b58\u6d3b\u7387\u6d4b\u5b9a\u3002<\/span><\/p>\n

\u6700\u540e\uff0c\u7814\u7a76\u56e2\u961f\u8bc6\u522b\u51fa\u4e86\u7ea6300\u79cd\u4f1a\u5e72\u6270\u8868\u8fbe\u7684SNV\u4ee5\u53ca400\u591a\u79cd\u9519\u4e49\u7a81\u53d8\u7684SNV\uff08\u4f1a\u5bfc\u81f4\u86cb\u767d\u8d28\u7684\u6c28\u57fa\u9178\u5e8f\u5217\u6539\u53d8\uff09\uff0c\u53d1\u73b0\u8fd9\u4e9b\u53d8\u5f02\u5e76\u65e0\u5b9e\u9645\u529f\u80fd\uff08\u4e0d\u7834\u574f\u57fa\u56e0\u7684\u539f\u6709\u529f\u80fd\uff09\u3002\u8fd9\u4e9b\u529f\u80fd\u8bc4\u5206\u4e0e\u5df2\u77e5\u7684\u81f4\u75c5\u6027\u53d8\u5f02\u6216\u826f\u6027\u53d8\u5f02\u7684\u4e34\u5e8a\u8bc4\u4f30\u5bc6\u5207\u76f8\u5173\u3002<\/span><\/p>\n

\u7814\u7a76\u4eba\u5458\u6307\u51fa\uff0c\u4e0e\u5176\u4ed6\u7ec6\u80de\u7cfb\u76f8\u6bd4\uff0cHAP1\u7ec6\u80de\u7cfb\u53ef\u80fd\u4e0d\u662f\u751f\u7406\u5b66\u4e0a\u7684\u6700\u4f18\u6a21\u578b\uff0c\u4f46\u4e0e\u4e34\u5e8a\u8bc4\u4f30\u7684\u9ad8\u5ea6\u76f8\u5173\u6027\u9a8c\u8bc1\u4e86\u6570\u636e\u3002\u7f8e\u56fd\u56fd\u5bb6\u764c\u75c7\u7814\u7a76\u6240\u79d1\u5b66\u5bb6\u80af\u5b9a\u4e86\u201c\u529f\u80fd\u8bc4\u5206\u201d\u5bf9\u53d8\u5f02\u5206\u7c7b\u7684\u91cd\u8981\u4ef7\u503c\uff0c\u5e76\u8ba4\u4e3a\u7814\u7a76\u7ed3\u679c\u53ef\u76f4\u63a5\u5e94\u7528\u4e8eBRCA1\u57fa\u56e0\u7b5b\u67e5\u7684\u89e3\u8bfb\u3002<\/span><\/p>\n

Nature|doi:<\/strong><\/span>10.1038\/s41586-018-0461-z<\/span><\/strong><\/p>\n


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\u63a8\u8350\u9605\u8bfb\uff1a<\/strong><\/span><\/p>\n

\u76f8\u7ea6\u5e7f\u5dde\u4e28\u7b2c\u4e5d\u5c4a\u4e2d\u56fd\u5206\u5b50\u8bca\u65ad\u6280\u672f\u5927\u4f1a\u7b49\u60a8\u6765\uff01<\/span><\/a>
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<\/span><\/a>\u52a0\u5165\u57fa\u56e0\u4ff1\u4e50\u90e8  \u83b7\u53d6\u6700\u65b0\u884c\u4e1a\u62a5\u544a<\/span><\/a>
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\u5168\u56fd1271\u5bb6\u7b2c\u4e09\u65b9\u533b\u5b66\u68c0\u9a8c\u5b9e\u9a8c\u5ba4\u540d\u5355\u6c47\u603b<\/span><\/a>
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\u5317\u3001\u4e0a\u3001\u5e7f\u3001\u6df1\u3001\u5929239\u5bb6\u72ec\u7acb\u7b2c\u4e09\u65b9\u533b\u5b66\u68c0\u9a8c\u6240\uff08\u5ba4\uff09\u540d\u5355<\/span><\/a>
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\u4e09\u5bb6\u57fa\u56e0\u68c0\u6d4b\u516c\u53f8\u5165\u90092018\u5e74\u4e2d\u56fd\u5927\u5065\u5eb7\u4ea7\u4e1a\u6700\u5177\u6295\u8d44\u4ef7\u503c\u4f01\u4e1aTOP10<\/a><\/span><\/p>\n


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\n<\/p><\/div>\n","protected":false},"excerpt":{"rendered":"

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