{"id":145395,"date":"2023-05-29T12:39:09","date_gmt":"2023-05-29T12:39:09","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e7%bd%95%e8%a7%81%e7%97%85%e8%af%8a%e6%96%ad%e6%80%a7%e5%85%a8%e5%9f%ba%e5%9b%a0%e7%bb%84%e6%b5%8b%e5%ba%8f%ef%bc%9a%e4%b8%8e-stephen-kingsmore-%e5%8d%9a%e5%a3%ab%e7%9a%84%e9%97%ae%e7%ad%94%e4%ba%a4\/"},"modified":"2026-01-21T12:09:43","modified_gmt":"2026-01-21T12:09:43","slug":"diagnostic-whole-genome-sequencing-for-rare-diseases-qa-with-dr-stephen-kingsmore-part-1","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhcn\/operations\/sequencing\/diagnostic-whole-genome-sequencing-for-rare-diseases-qa-with-dr-stephen-kingsmore-part-1\/","title":{"rendered":"\u7f55\u89c1\u75c5\u8bca\u65ad\u6027\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff1a\u4e0e Stephen Kingsmore \u535a\u58eb\u7684\u95ee\u7b54\u4ea4\u6d41\uff08\u7b2c 1 \u90e8\u5206\uff09"},"content":{"rendered":"<p class=\"text-align-justify\"> <a href=\"https:\/\/radygenomics.org\/\" target=\"_blank\" rel=\"noopener\">Rady Children&#8217;s Institute for Genomic Medicine<\/a> \u603b\u88c1\u517c\u9996\u5e2d\u6267\u884c\u5b98 Stephen Kingsmore \u535a\u58eb\u5728\u63a8\u52a8\u4e3a\u51fa\u73b0\u9057\u4f20\u75be\u75c5\u75c7\u72b6\u7684\u513f\u7ae5\u63d0\u4f9b\u7f55\u89c1\u75c5\u8bca\u65ad\u6027\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f (WGS) \u670d\u52a1\u65b9\u9762\uff0c\u53d1\u6325\u7740\u81f3\u5173\u91cd\u8981\u7684\u4f5c\u7528\u3002\u5728\u6b64\u6b21\u4e0e Roche Diagnostics Asia Pacific \u533b\u7597\u4e8b\u52a1\u8d1f\u8d23\u4eba Will Greene \u7684\u95ee\u7b54\u73af\u8282\u4e2d\uff0cKingsmore \u535a\u58eb\u9610\u8ff0\u4e86\u8be5\u7814\u7a76\u6240\u600e\u6837\u4e3a\u5317\u7f8e\u5730\u533a\u7ea6 90 \u5bb6\u513f\u7ae5\u533b\u9662\u63d0\u4f9b\u5feb\u901f\u7684\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u8bca\u65ad\u670d\u52a1\u3002\u4ed6\u8fd8\u5206\u4eab\u4e86\u90a3\u4e9b\u8ba9\u8fd9\u4e9b\u670d\u52a1\u66f4\u4e3a\u9ad8\u6548\u3001\u66f4\u5177\u6210\u672c\u6548\u76ca\u7684\u6280\u672f\u53d1\u5c55\u8d8b\u52bf\uff0c\u4ee5\u53ca\u5b83\u4eec\u5bf9\u5b9e\u9a8c\u5ba4\u533b\u5b66\u5b9e\u8df5\u53ef\u80fd\u4ea7\u751f\u7684\u6df1\u8fdc\u5f71\u54cd\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Rady Children&#8217;s Institute for Genomic Medicine \u603b\u88c1\u517c\u9996\u5e2d\u6267\u884c\u5b98 Stephen Kingsmore \u535a\u58eb\u5728\u63a8\u52a8\u4e3a\u51fa\u73b0\u9057\u4f20\u75be\u75c5\u75c7\u72b6\u7684\u513f\u7ae5\u63d0\u4f9b\u7f55\u89c1\u75c5\u8bca\u65ad\u6027\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f (WGS) \u670d\u52a1\u65b9\u9762\uff0c\u53d1\u6325\u7740\u81f3\u5173\u91cd\u8981\u7684\u4f5c\u7528\u3002\u5728\u6b64\u6b21\u4e0e Roche Diagnostics Asia Pacific \u533b\u7597\u4e8b\u52a1\u8d1f\u8d23\u4eba Will Greene \u7684\u95ee\u7b54\u73af\u8282\u4e2d\uff0cKingsmore \u535a\u58eb\u9610\u8ff0\u4e86\u8be5\u7814\u7a76\u6240\u600e\u6837\u4e3a\u5317\u7f8e\u5730\u533a\u7ea6 90 \u5bb6\u513f\u7ae5\u533b\u9662\u63d0\u4f9b\u5feb\u901f\u7684\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u8bca\u65ad\u670d\u52a1\u3002\u4ed6\u8fd8\u5206\u4eab\u4e86\u90a3\u4e9b\u8ba9\u8fd9\u4e9b\u670d\u52a1\u66f4\u4e3a\u9ad8\u6548\u3001\u66f4\u5177\u6210\u672c\u6548\u76ca\u7684\u6280\u672f\u53d1\u5c55\u8d8b\u52bf\uff0c\u4ee5\u53ca\u5b83\u4eec\u5bf9\u5b9e\u9a8c\u5ba4\u533b\u5b66\u5b9e\u8df5\u53ef\u80fd\u4ea7\u751f\u7684\u6df1\u8fdc\u5f71\u54cd\u3002<\/p>\n","protected":false},"author":1,"featured_media":141107,"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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