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class=\"wp-block-heading\"><strong>\u990a\u548c\u6e2f\u5927\u7814\u7a76\uff1a\u7be9\u67e5\u6216\u5ffd\u7565\u7531\u5176\u4ed6\u57fa\u56e0\u7a81\u8b8a\u5f15\u767c\u6f5b\u5728\u98a8\u96aa<\/strong><\/h2>\n\n\n\n<p>\u7814\u7a76\u5718\u968a\u6307\u51fa\uff0c\u5728\u907a\u50b3\u57fa\u56e0\u7be9\u67e5\u904e\u7a0b\u4e2d\uff0c\u82e5\u53ea\u95dc\u6ce8BRCA\u57fa\u56e0\u7a81\u8b8a\uff0c\u6709\u6a5f\u6703\u5ffd\u7565\u7531\u5176\u4ed6\u57fa\u56e0\u7a81\u8b8a\u5f15\u8d77\u7684\u6f5b\u5728\u60a3\u764c\u98a8\u96aa\u3002\u672c\u8eab\u70ba\u9999\u6e2f\u907a\u50b3\u6027\u4e73\u764c\u5bb6\u65cf\u8cc7\u6599\u5eab\u4e3b\u5e2d\u7684\u6e2f\u5927\u91ab\u5b78\u9662\u81e8\u7240\u91ab\u5b78\u5b78\u9662\u5916\u79d1\u5b78\u7cfb\u81e8\u7240\u6559\u6388\u517c\u990a\u548c\u91ab\u9662\u4e73\u623f\u5916\u79d1\u540d\u8b7d\u9867\u554f\u91ab\u751f\u913a\u9744\u6167\u6559\u6388\u7a31\uff0c\u73fe\u6642\u653f\u5e9c\u8f44\u4e0b\u5c08\u5bb6\u5c0f\u7d44\u7684\u4e73\u764c\u7be9\u67e5\u5efa\u8b70\u53ea\u5c07\u5e36\u6709BRCA1\u6216BRCA2\u57fa\u56e0\u7a81\u8b8a\u5217\u70ba\u9ad8\u98a8\u96aa\u56e0\u7d20\uff0c\u4e0b\u6b21\u6703\u8b70\u5c07\u63d0\u51fa\u8003\u616e\u52a0\u5165\u5176\u4ed6\u57fa\u56e0\u7a81\u8b8a\u3002<\/p>\n\n\n\n<p>\u913a\u6559\u6388\u8aaa\uff0c\u91ab\u7ba1\u5c40\u73fe\u5411\u5375\u5de2\u764c\u60a3\u8005\u63d0\u4f9b\u514d\u8cbb\u57fa\u56e0\u6e2c\u8a66\uff0c\u4ee5\u4f7f\u7528\u6291\u5236\u5291\u6cbb\u7642\uff0c\u8cc7\u6599\u5eab\u5247\u6703\u70ba\u5176\u4ed6\u9ad8\u98a8\u96aa\u8005\u63d0\u4f9b\u514d\u8cbb\u57fa\u56e0\u6e2c\u8a66\uff0c\u8207\u516c\u71df\u6a5f\u69cb\u4e92\u88dc\uff0c\u4ea6\u6b63\u8207\u5c40\u65b9\u5546\u8a0e\u64f4\u5c55\u57fa\u56e0\u6e2c\u8a66\u7bc4\u570d\u81f3\u6db5\u84cb\u4e73\u764c\u60a3\u8005\uff0c\u4ee4\u8cc7\u6599\u5eab\u53ef\u5c07\u8cc7\u6e90\u6295\u653e\u5728\u5176\u4ed6\u7bc4\u7587\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><picture><source srcset=\"\/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-1024x683.webp 1024w,\/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-300x200.webp 300w,\/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-150x100.webp 150w,\/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-768x512.webp 768w,\/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9.webp 1200w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" type=\"image\/webp\"><img src=\"\/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-1024x683.jpg\" height=\"683\" width=\"1024\" srcset=\"\/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-1024x683.jpg 1024w, \/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-300x200.jpg 300w, \/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-150x100.jpg 150w, \/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9-768x512.jpg 768w, \/\/www.afterroberto.com\/wp-content\/uploads\/2023\/11\/2fdaafd5aa1b9319b081a9cf5cd913b9.jpg 1200w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" class=\"wp-image-45317 sp-no-webp\" alt=\"\" fetchpriority=\"high\" decoding=\"async\" style=\"aspect-ratio:1.499267935578331;width:903px;height:auto\"  > <\/picture><figcaption class=\"wp-element-caption\">\u990a\u548c\u91ab\u9662\u81e8\u7240\u75c5\u7406\u79d1\u53ca\u5206\u5b50\u75c5\u7406\u79d1\u4e3b\u4efb\u99ac\u7d39\u921e\uff08\u5de6\uff09\u53ca\u9999\u6e2f\u907a\u50b3\u6027\u4e73\u764c\u5bb6\u65cf\u8cc7\u6599\u5eab\u4e3b\u5e2d\u913a\u9744\u6167\uff08\u53f3\uff09\u3002\uff08\u5f35\u9038\u7fb2\u651d\uff09<\/figcaption><\/figure>\n\n\n\n<hr class=\"wp-block-separator has-text-color has-cyan-bluish-gray-color has-alpha-channel-opacity has-cyan-bluish-gray-background-color has-background is-style-wide\"\/>\n\n\n\n<p><\/p>\n\n\n\n<p>\u76f8\u95dc\u95b2\u8b80\uff1a<a href=\"\/\/www.afterroberto.com\/%e9%86%ab%e5%8b%99%e5%8c%96%e9%a9%97%e5%b8%ab%e6%8b%86%e8%a7%a3%e5%9f%ba%e5%9b%a0%e5%af%86%e7%a2%bc-%e6%8a%bd%e3%80%8c%e8%a1%80%e3%80%8d%e5%89%9d%e7%b9%ad\/\">\u91ab\u52d9\u5316\u9a57\u5e2b\u62c6\u89e3\u57fa\u56e0\u5bc6\u78bc \u62bd\u300c\u8840\u300d\u525d\u7e6d \u70ba\u91ab\u751f\u3001\u75c5\u4eba\u63d0\u4f9b\u500b\u4eba\u5316\u6cbb\u7642\u300c\u60c5\u5831\u300d \u3010\u990a\u548c\u767e\u5e74\u5c08\u984c\u3011<\/a><\/p>\n\n\n\n<hr class=\"wp-block-separator has-text-color has-cyan-bluish-gray-color has-alpha-channel-opacity has-cyan-bluish-gray-background-color has-background is-style-wide\"\/>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u63a1\u7528\u591a\u57fa\u56e0\u7d44\u5408\u6e2c\u8a66\u7b49\u6280\u8853 \u5168\u9762\u4e86\u89e3\u9ad8\u5371\u4eba\u58eb\u53ca\u65e9\u5236\u5b9a\u500b\u4eba\u5316\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u990a\u548c\u91ab\u9662\u81e8\u5e8a\u75c5\u7406\u79d1\u53ca\u5206\u5b50\u75c5\u7406\u79d1\u4e3b\u4efb\u3001\u8840\u6db2\u5b78\u5c08\u79d1\u91ab\u751f\u99ac\u7d39\u921e\u91ab\u751f\u8868\u793a\uff0c\u7814\u7a76\u4e2d\u990a\u548c\u63a1\u7528\u4e86\u591a\u57fa\u56e0\u7d44\u5408\u6e2c\u8a66\u6280\u8853(multigene panel tests)\uff0c\u7d50\u5408\u6b21\u4e16\u4ee3\u57fa\u56e0\u6392\u5e8f\uff08next-generation sequencing, \u7c21\u7a31NGS\uff09\u53ca\u7b2c\u4e09\u4ee3\u57fa\u56e0\u6392\u5e8f\uff08third-generation sequencing, \u7c21\u7a31TGS\uff09\u6280\u8853\uff0c\u53ef\u540c\u6642\u5feb\u901f\u5730\u6aa2\u6e2c\u591a\u500b\u57fa\u56e0\u7d44\uff0c\u6709\u52a9\u66f4\u5168\u9762\u4e86\u89e3\u9ad8\u5371\u4eba\u58eb\u6613\u65bc\u7f79\u60a3\u4e73\u764c\u548c\u5375\u5de2\u764c\u7684\u907a\u50b3\u57fa\u56e0\u56e0\u7d20\u3002<\/p>\n\n\n\n<p>\u300c\u591a\u57fa\u56e0\u7d44\u5408\u6e2c\u8a66\u53ef\u4ee5\u5728\u55ae\u4e00\u6e2c\u8a66\u4e2d\u5075\u6e2c\u767c\u751f\u65bc\u4e0d\u540c\u57fa\u56e0\u7684\u7a81\u8b8a\u5916\uff0c\u66f4\u6709\u52a9\u627e\u51fa\u9069\u7528\u65bc\u6a19\u9776\u6cbb\u7642\u7684\u816b\u7624\u6a19\u8a18\uff0c\u5f9e\u800c\u5236\u5b9a\u66f4\u6709\u6548\u548c\u500b\u4eba\u5316\u7684\u6cbb\u7642\u7b56\u7565\u3002\u81f3\u65bc\u6b21\u4e16\u4ee3\u57fa\u56e0\u6392\u5e8f\u53ef\u540c\u6642\u5206\u6790\u591a\u500b\u57fa\u56e0\uff1b\u76ee\u524d\u6700\u5148\u9032\u7684\u7b2c\u4e09\u4ee3\u57fa\u56e0\u6392\u5e8f\u66f4\u53ef\u540c\u6642\u8b80\u53d6\u8f03\u9577\u5e8f\u5217\u7247\u6bb5(long-read length)\uff0c\u4e26\u63d0\u4f9b\u5be6\u6642\u7d50\u679c\u548c\u9054\u5230\u66f4\u5feb\u7684\u57fa\u56e0\u6392\u5e8f\u901f\u5ea6\u3002\u300d<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e09\u65b9\u5354\u4f5c\u52a9\u53ca\u65e9\u8a3a\u65b7\u3001\u9810\u9632\u4ecb\u5165<\/strong><\/h2>\n\n\n\n<p>\u99ac\u91ab\u751f\u8868\u793a\uff0c\u7814\u7a76\u5718\u968a\u7684\u4e09\u65b9\u5354\u4f5c\uff0c\u6709\u52a9\u70ba\u9ad8\u98a8\u96aa\u7fa4\u7d44\u53ca\u5176\u5bb6\u5ead\u6210\u54e1\u4f5c\u6301\u7e8c\u76e3\u5bdf\u548c\u764c\u75c7\u98a8\u96aa\u8a55\u4f30\uff0c\u4ee5\u9054\u81f4\u53ca\u65e9\u8a3a\u65b7\u3002\u913a\u6559\u6388\u4ea6\u5f37\u8abf\uff0c\u901a\u904e\u8207\u990a\u548c\u53ca\u6e2f\u5927\u91ab\u5b78\u9662\u5408\u4f5c\uff0c\u904b\u7528\u5148\u9032\u7684\u5be6\u9a57\u5ba4\u6280\u8853\uff0c\u85c9\u4ee5\u91cd\u65b0\u5be9\u8996\u904e\u53bb\u4e0d\u80fd\u78ba\u5b9a\u81f4\u75c5\u6027\u7684\u57fa\u56e0\u7a81\u8b8a(VUS)\u75c5\u4f8b\uff0c\u4ea6\u900f\u904e\u6df1\u5165\u4e86\u89e3\u672c\u5730\u83ef\u4eba\u7fa4\u7d44\u7684\u4e73\u764c\u548c\u5375\u5de2\u764c\u57fa\u56e0\u7a81\u8b8a\u983b\u8b5c\uff0c\u53ef\u4ee5\u70ba\u60a3\u8005\u63d0\u4f9b\u9810\u9632\u4ecb\u5165\u63aa\u65bd\u3002<\/p>\n\n\n\n<p>\u885b\u751f\u7f72\u65bc2021\u5e74\u63a8\u884c\u70ba\u671f\u5169\u5e74\u7684\u4e73\u764c\u7be9\u67e5\u5148\u5c0e\u8a08\u5283\uff0c\u4e26\u64ec\u4eca\u5e74\u5e95\u524d\u63a8\u884c\u4e0b\u4e00\u968e\u6bb5\u8a08\u5283\u3002\u913a\u6559\u6388\u7a31\u9996\u968e\u6bb5\u5148\u5c0e\u8a08\u5283\u96c6\u4e2d\u70ba\u4e2d\u98a8\u96aa\u8005\u7be9\u67e5\uff0c\u64da\u5176\u4e86\u89e3\u5c08\u5bb6\u5c0f\u7d44\u6b63\u63a2\u8a0e\u4e0b\u968e\u6bb5\u8a08\u5283\u8f49\u70ba\u96c6\u4e2d\u8cc7\u6e90\u7be9\u67e5\u9ad8\u98a8\u96aa\u8005\uff0c\u5176\u4e2d\u4e00\u500b\u65b9\u5411\u662f\u7531\u8cc7\u6599\u5eab\u8f49\u4ecb\u5e36\u6709\u57fa\u56e0\u7a81\u8b8a\u8005\uff0c\u6599\u4eca\u5e74\u5167\u672a\u5fc5\u80fd\u63a8\u51fa\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u57282020\u5e74\u9304\u5f97\u5973\u6027\u7684\u764c\u75c7\u65b0\u75c7\u4e2d\uff0c\u4e73\u764c\u548c\u5375\u5de2\u764c\u5171\u4f54\u7d0432%\uff0c\u4ea6\u662f\u672c\u6e2f\u5973\u6027\u56e0\u764c\u75c7\u6b7b\u4ea1\u7684\u4e3b\u8981\u539f\u56e0\u3002\u5176\u4e2d\u670910\u81f315%\u7684\u4e73\u764c\u60a3\u8005\u662f\u7531\u57fa\u56e0\u7a81\u8b8a\u907a\u50b3\u6240\u81f4\uff0c\u6700\u5e38\u898b\u57fa\u56e0\u7a81\u8b8a\u51fa\u73fe\u5728BRCA1\u6216BRCA2\u3002\u990a\u548c\u91ab\u7642\u96c6\u5718\u3001\u9999\u6e2f\u5927\u5b78\u674e\u5609\u8aa0\u91ab\u5b78\u9662\u53ca\u9999\u6e2f\u907a\u50b3\u6027\u4e73\u764c\u5bb6\u65cf\u8cc7\u6599\u5eab\u7d9c\u5408\u904e\u53bb10\u591a\u5e74\u767c\u8868112\u9805\u7814\u7a76\u986f\u793a\uff0c4.3%\u4e73\u764c\u6216\u5375\u5de2\u764c\u60a3\u8005\u53ca\u9ad8\u5371\u8005\u5e36\u6709\u5176\u4ed6\u57fa\u56e0\u7a81\u8b8a\uff0c\u4f8b\u5982PALB2\u3001TP53\u53caPTEN\u7b49\u57fa\u56e0\u7a81\u8b8a\uff0c\u7576\u4e2d\u5e36\u6709\u500b\u5225\u57fa\u56e0\u7a81\u8b8a\u8005\u7684\u60a3\u764c\u98a8\u96aa\u66f4\u9054\u516b\u81f3\u4e5d\u6210\u3002\u7814\u7a76\u5718\u968a\u6307\u51fa\uff0c\u8b58\u5225\u548c\u4e86\u89e3BRCA\u4ee5\u5916\u7684\u57fa\u56e0\u7a81\u8b8a\u5341\u5206\u91cd\u8981\uff0c\u80fd\u70ba\u4e73\u764c\u548c\u5375\u5de2\u764c\u60a3\u8005\u53ca\u5176\u5bb6\u4eba\u5728\u7ba1\u7406\u764c\u75c7\u98a8\u96aa\u65b9\u9762\u63d0\u4f9b\u66f4\u5168\u9762\u7684\u5be6\u8b49\u548c\u652f\u6301\uff0c\u8b93\u4ed6\u5011\u9078\u64c7\u5207\u5408\u81ea\u5df1\u7684\u9810\u9632\u63aa\u65bd\u548c\u6cbb\u7642\u65b9\u6848\u3002 \u7814\u7a76\uff1a\u4e73\u764c\u5375\u5de2\u764c\u7b49\u60a3\u8005\u903e4%\u5e36\u975eBRCA\u57fa\u56e0\u7a81\u8b8a \u5e36TP53\u6216\u81f4\u96d9\u5074\u4e73\u764c \u9999\u6e2f\u907a\u50b3\u6027\u4e73\u764c\u5bb6\u65cf\u8cc7\u6599\u5eab\u73fe\u6642\u6709\u5411\u5e02\u6c11\u63d0\u4f9b\u514d\u8cbb\u907a\u50b3\u8aee\u8a62\u670d\u52d9\uff0c\u82e5\u5c6c\u7f79\u60a3\u4e73\u764c\u6216\u5375\u5de2\u764c\u7684\u9ad8\u98a8\u96aa\u8005\uff0c\u53ef\u514d\u8cbb\u4f5c\u57fa\u56e0\u6e2c\u8a66\u3002\u8cc7\u6599\u5eab\u65bc2007\u5e74\u8d77\u8207\u990a\u548c\u53ca\u6e2f\u5927\u91ab\u5b78\u9662\u5408\u4f5c\u767c\u8868112\u9805\u7814\u7a76\uff0c\u8490\u96c6\u4e26\u5206\u67904897\u540d\u4e73\u764c\u6216\u5375\u5de2\u764c\u60a3\u8005\u53ca\u9ad8\u5371\u8005\u6578\u64da\uff0c\u767c\u73fe10.9%\u5e36\u6709BRCA1\u6216BRCA2\uff0c\u8a72\u5169\u6b3e\u57fa\u56e0\u7a81\u8b8a\u800580\u6b72\u524d\u7f79\u60a3\u4e73\u764c\u98a8\u96aa\u7d04\u70ba\u56db\u81f3\u516d\u6210\u3002 \u7814\u7a76\u986f\u793a\uff0c\u53e6\u67094.3%\u60a3\u8005\u53ca\u9ad8\u5371\u8005\u5e36\u6709\u5176\u4ed6\u57fa\u56e0\u7a81\u8b8a\uff0c\u5305\u62ecPALB2\uff081.2%\uff09\u53caTP53\uff080.6%\uff09\uff0c\u5169\u8005\u572880\u6b72\u6642\u7f79\u60a3\u4e73\u764c\u7684\u98a8\u96aa\u5206\u5225\u70ba52.8%\u53ca\u7d04\u516b\u81f3\u4e5d\u6210\u3002\u503c\u5f97\u95dc\u6ce8\u7684\u662f\u8207\u4e73\u764c\u76f8\u95dc\u7684\u57fa\u56e0TP53\uff0c\u5e36\u6709\u6b64\u57fa\u56e0\u7a81\u8b8a\u7684\u5973\u6027\u901a\u5e38\u572835\u6b72\u6216\u4ee5\u4e0b\u767c\u75c5\uff0c\u66f4\u6709\u53ef\u80fd\u51fa\u73fe\u96d9\u5074\u4e73\u764c\u3002 \u76f8\u95dc\u95b2\u8b80\uff1a\u8cea\u5b50\u6cbb\u7642\u7cbe\u6e96\u653b\u64ca\u764c\u7d30\u80de \u5152\u7ae5\u764c\u75c7\u3001\u4e73\u764c\u3001\u982d\u9838\u764c\u9069\u7528 \u990a\u548c\u6e2f\u5927\u7814\u7a76\uff1a\u7be9\u67e5\u6216\u5ffd\u7565\u7531\u5176\u4ed6\u57fa\u56e0\u7a81\u8b8a\u5f15\u767c\u6f5b\u5728\u98a8\u96aa \u7814\u7a76\u5718\u968a\u6307\u51fa\uff0c\u5728\u907a\u50b3\u57fa\u56e0\u7be9\u67e5\u904e\u7a0b\u4e2d\uff0c\u82e5\u53ea\u95dc\u6ce8BRCA\u57fa\u56e0\u7a81\u8b8a\uff0c\u6709\u6a5f\u6703\u5ffd\u7565\u7531\u5176\u4ed6\u57fa\u56e0\u7a81\u8b8a\u5f15\u8d77\u7684\u6f5b\u5728\u60a3\u764c\u98a8\u96aa\u3002\u672c\u8eab\u70ba\u9999\u6e2f\u907a\u50b3\u6027\u4e73\u764c\u5bb6\u65cf\u8cc7\u6599\u5eab\u4e3b\u5e2d\u7684\u6e2f\u5927\u91ab\u5b78\u9662\u81e8\u7240\u91ab\u5b78\u5b78\u9662\u5916\u79d1\u5b78\u7cfb\u81e8\u7240\u6559\u6388\u517c\u990a\u548c\u91ab\u9662\u4e73\u623f\u5916\u79d1\u540d\u8b7d\u9867\u554f\u91ab\u751f\u913a\u9744\u6167\u6559\u6388\u7a31\uff0c\u73fe\u6642\u653f\u5e9c\u8f44\u4e0b\u5c08\u5bb6\u5c0f\u7d44\u7684\u4e73\u764c\u7be9\u67e5\u5efa\u8b70\u53ea\u5c07\u5e36\u6709BRCA1\u6216BRCA2\u57fa\u56e0\u7a81\u8b8a\u5217\u70ba\u9ad8\u98a8\u96aa\u56e0\u7d20\uff0c\u4e0b\u6b21\u6703\u8b70\u5c07\u63d0\u51fa\u8003\u616e\u52a0\u5165\u5176\u4ed6\u57fa\u56e0\u7a81\u8b8a\u3002 \u913a\u6559\u6388\u8aaa\uff0c\u91ab\u7ba1\u5c40\u73fe\u5411\u5375\u5de2\u764c\u60a3\u8005\u63d0\u4f9b\u514d\u8cbb\u57fa\u56e0\u6e2c\u8a66\uff0c\u4ee5\u4f7f\u7528\u6291\u5236\u5291\u6cbb\u7642\uff0c\u8cc7\u6599\u5eab\u5247\u6703\u70ba\u5176\u4ed6\u9ad8\u98a8\u96aa\u8005\u63d0\u4f9b\u514d\u8cbb\u57fa\u56e0\u6e2c\u8a66\uff0c\u8207\u516c\u71df\u6a5f\u69cb\u4e92\u88dc\uff0c\u4ea6\u6b63\u8207\u5c40\u65b9\u5546\u8a0e\u64f4\u5c55\u57fa\u56e0\u6e2c\u8a66\u7bc4\u570d\u81f3\u6db5\u84cb\u4e73\u764c\u60a3\u8005\uff0c\u4ee4\u8cc7\u6599\u5eab\u53ef\u5c07\u8cc7\u6e90\u6295\u653e\u5728\u5176\u4ed6\u7bc4\u7587\u3002 \u76f8\u95dc\u95b2\u8b80\uff1a\u91ab\u52d9\u5316\u9a57\u5e2b\u62c6\u89e3\u57fa\u56e0\u5bc6\u78bc \u62bd\u300c\u8840\u300d\u525d\u7e6d \u70ba\u91ab\u751f\u3001\u75c5\u4eba\u63d0\u4f9b\u500b\u4eba\u5316\u6cbb\u7642\u300c\u60c5\u5831\u300d \u3010\u990a\u548c\u767e\u5e74\u5c08\u984c\u3011 \u63a1\u7528\u591a\u57fa\u56e0\u7d44\u5408\u6e2c\u8a66\u7b49\u6280\u8853 \u5168\u9762\u4e86\u89e3\u9ad8\u5371\u4eba\u58eb\u53ca\u65e9\u5236\u5b9a\u500b\u4eba\u5316\u6cbb\u7642 \u990a\u548c\u91ab\u9662\u81e8\u5e8a\u75c5\u7406\u79d1\u53ca\u5206\u5b50\u75c5\u7406\u79d1\u4e3b\u4efb\u3001\u8840\u6db2\u5b78\u5c08\u79d1\u91ab\u751f\u99ac\u7d39\u921e\u91ab\u751f\u8868\u793a\uff0c\u7814\u7a76\u4e2d\u990a\u548c\u63a1\u7528\u4e86\u591a\u57fa\u56e0\u7d44\u5408\u6e2c\u8a66\u6280\u8853(multigene panel tests)\uff0c\u7d50\u5408\u6b21\u4e16\u4ee3\u57fa\u56e0\u6392\u5e8f\uff08next-generation sequencing, \u7c21\u7a31NGS\uff09\u53ca\u7b2c\u4e09\u4ee3\u57fa\u56e0\u6392\u5e8f\uff08third-generation sequencing, \u7c21\u7a31TGS\uff09\u6280\u8853\uff0c\u53ef\u540c\u6642\u5feb\u901f\u5730\u6aa2\u6e2c\u591a\u500b\u57fa\u56e0\u7d44\uff0c\u6709\u52a9\u66f4\u5168\u9762\u4e86\u89e3\u9ad8\u5371\u4eba\u58eb\u6613\u65bc\u7f79\u60a3\u4e73\u764c\u548c\u5375\u5de2\u764c\u7684\u907a\u50b3\u57fa\u56e0\u56e0\u7d20\u3002 \u300c\u591a\u57fa\u56e0\u7d44\u5408\u6e2c\u8a66\u53ef\u4ee5\u5728\u55ae\u4e00\u6e2c\u8a66\u4e2d\u5075\u6e2c\u767c\u751f\u65bc\u4e0d\u540c\u57fa\u56e0\u7684\u7a81\u8b8a\u5916\uff0c\u66f4\u6709\u52a9\u627e\u51fa\u9069\u7528\u65bc\u6a19\u9776\u6cbb\u7642\u7684\u816b\u7624\u6a19\u8a18\uff0c\u5f9e\u800c\u5236\u5b9a\u66f4\u6709\u6548\u548c\u500b\u4eba\u5316\u7684\u6cbb\u7642\u7b56\u7565\u3002\u81f3\u65bc\u6b21\u4e16\u4ee3\u57fa\u56e0\u6392\u5e8f\u53ef\u540c\u6642\u5206\u6790\u591a\u500b\u57fa\u56e0\uff1b\u76ee\u524d\u6700\u5148\u9032\u7684\u7b2c\u4e09\u4ee3\u57fa\u56e0\u6392\u5e8f\u66f4\u53ef\u540c\u6642\u8b80\u53d6\u8f03\u9577\u5e8f\u5217\u7247\u6bb5(long-read length)\uff0c\u4e26\u63d0\u4f9b\u5be6\u6642\u7d50\u679c\u548c\u9054\u5230\u66f4\u5feb\u7684\u57fa\u56e0\u6392\u5e8f\u901f\u5ea6\u3002\u300d \u4e09\u65b9\u5354\u4f5c\u52a9\u53ca\u65e9\u8a3a\u65b7\u3001\u9810\u9632\u4ecb\u5165 \u99ac\u91ab\u751f\u8868\u793a\uff0c\u7814\u7a76\u5718\u968a\u7684\u4e09\u65b9\u5354\u4f5c\uff0c\u6709\u52a9\u70ba\u9ad8\u98a8\u96aa\u7fa4\u7d44\u53ca\u5176\u5bb6\u5ead\u6210\u54e1\u4f5c\u6301\u7e8c\u76e3\u5bdf\u548c\u764c\u75c7\u98a8\u96aa\u8a55\u4f30\uff0c\u4ee5\u9054\u81f4\u53ca\u65e9\u8a3a\u65b7\u3002\u913a\u6559\u6388\u4ea6\u5f37\u8abf\uff0c\u901a\u904e\u8207\u990a\u548c\u53ca\u6e2f\u5927\u91ab\u5b78\u9662\u5408\u4f5c\uff0c\u904b\u7528\u5148\u9032\u7684\u5be6\u9a57\u5ba4\u6280\u8853\uff0c\u85c9\u4ee5\u91cd\u65b0\u5be9\u8996\u904e\u53bb\u4e0d\u80fd\u78ba\u5b9a\u81f4\u75c5\u6027\u7684\u57fa\u56e0\u7a81\u8b8a(VUS)\u75c5\u4f8b\uff0c\u4ea6\u900f\u904e\u6df1\u5165\u4e86\u89e3\u672c\u5730\u83ef\u4eba\u7fa4\u7d44\u7684\u4e73\u764c\u548c\u5375\u5de2\u764c\u57fa\u56e0\u7a81\u8b8a\u983b\u8b5c\uff0c\u53ef\u4ee5\u70ba\u60a3\u8005\u63d0\u4f9b\u9810\u9632\u4ecb\u5165\u63aa\u65bd\u3002 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