{"id":144502,"date":"2023-05-29T12:39:09","date_gmt":"2023-05-29T12:39:09","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e7%bd%95%e8%a6%8b%e7%96%be%e7%97%85%e8%a8%ba%e6%96%b7%e6%80%a7%e5%85%a8%e5%9f%ba%e5%9b%a0%e9%ab%94%e5%ae%9a%e5%ba%8f%ef%bc%9a%e8%88%87-stephen-kingsmore-%e9%86%ab%e5%b8%ab%e7%9a%84%e5%95%8f%e7%ad%94\/"},"modified":"2026-01-19T07:29:50","modified_gmt":"2026-01-19T07:29:50","slug":"diagnostic-whole-genome-sequencing-for-rare-diseases-qa-with-dr-stephen-kingsmore-part-1","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhtw\/operations\/sequencing\/diagnostic-whole-genome-sequencing-for-rare-diseases-qa-with-dr-stephen-kingsmore-part-1\/","title":{"rendered":"\u7f55\u898b\u75be\u75c5\u8a3a\u65b7\u6027\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff1a\u8207 Stephen Kingsmore \u91ab\u5e2b\u7684\u554f\u7b54\uff08\u7b2c 1 \u90e8\u5206\uff09"},"content":{"rendered":"<p class=\"text-align-justify\">\u8eab\u70ba <a href=\"https:\/\/radygenomics.org\/\" target=\"_blank\" rel=\"noopener\">Rady Children&#8217;s Institute<\/a> for Genomic Medicine \u7e3d\u88c1\u517c\u57f7\u884c\u9577\uff0cStephen Kingsmore \u535a\u58eb\u5728\u63a8\u52d5\u5177\u6709\u907a\u50b3\u75be\u75c5\u75c7\u72c0\u7684\u5152\u7ae5\u7372\u5f97\u7f55\u898b\u75be\u75c5\u8a3a\u65b7\u6027\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f (WGS) \u670d\u52d9\u65b9\u9762\u767c\u63ee\u95dc\u9375\u4f5c\u7528\u3002\u5728\u672c\u554f\u7b54\u4e2d\uff0cKingsmore \u535a\u58eb\u8207 Roche Diagnostics \u4e9e\u592a\u5340\u91ab\u7642\u4fdd\u5065\u696d\u52d9\u8ca0\u8cac\u4eba Will Greene \u8a0e\u8ad6\u8a72\u7814\u7a76\u6240\u5982\u4f55\u5411\u5317\u7f8e\u5730\u5340\u7d04 90 \u5bb6\u5152\u7ae5\u91ab\u9662\u63d0\u4f9b\u5feb\u901f\u8a3a\u65b7 WGS \u670d\u52d9\u3002\u6b64\u5916\uff0c\u4ed6\u4e5f\u5206\u4eab\u4f7f\u9019\u4e9b\u670d\u52d9\u66f4\u5f37\u5927\u3001\u66f4\u5177\u6210\u672c\u6548\u76ca\u7684\u6280\u8853\u8da8\u52e2\uff0c\u4ee5\u53ca\u9019\u4e9b\u8da8\u52e2\u5c0d\u5be6\u9a57\u5ba4\u91ab\u5b78\u5be6\u52d9\u7684\u6f5b\u5728\u5f71\u97ff\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u8eab\u70ba Rady Children&#8217;s Institute for Genomic Medicine \u7e3d\u88c1\u517c\u57f7\u884c\u9577\uff0cStephen Kingsmore \u535a\u58eb\u5728\u63a8\u52d5\u5177\u6709\u907a\u50b3\u75be\u75c5\u75c7\u72c0\u7684\u5152\u7ae5\u7372\u5f97\u7f55\u898b\u75be\u75c5\u8a3a\u65b7\u6027\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f (WGS) \u670d\u52d9\u65b9\u9762\u767c\u63ee\u95dc\u9375\u4f5c\u7528\u3002\u5728\u672c\u554f\u7b54\u4e2d\uff0cKingsmore \u535a\u58eb\u8207 Roche Diagnostics \u4e9e\u592a\u5340\u91ab\u7642\u4fdd\u5065\u696d\u52d9\u8ca0\u8cac\u4eba Will Greene \u8a0e\u8ad6\u8a72\u7814\u7a76\u6240\u5982\u4f55\u5411\u5317\u7f8e\u5730\u5340\u7d04 90 \u5bb6\u5152\u7ae5\u91ab\u9662\u63d0\u4f9b\u5feb\u901f\u8a3a\u65b7 WGS \u670d\u52d9\u3002\u6b64\u5916\uff0c\u4ed6\u4e5f\u5206\u4eab\u4f7f\u9019\u4e9b\u670d\u52d9\u66f4\u5f37\u5927\u3001\u66f4\u5177\u6210\u672c\u6548\u76ca\u7684\u6280\u8853\u8da8\u52e2\uff0c\u4ee5\u53ca\u9019\u4e9b\u8da8\u52e2\u5c0d\u5be6\u9a57\u5ba4\u91ab\u5b78\u5be6\u52d9\u7684\u6f5b\u5728\u5f71\u97ff\u3002<\/p>\n","protected":false},"author":1,"featured_media":141108,"parent":0,"menu_order":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center 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