{"id":147279,"date":"2023-05-29T12:39:09","date_gmt":"2023-05-29T12:39:09","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/giai-trinh-tu-toan-bo-gen-danh-cho-chan-doan-benh-hiem-hoi-dap-voi-tien-si-stephen-kingsmore-phan-1\/"},"modified":"2026-02-24T06:38:28","modified_gmt":"2026-02-24T06:38:28","slug":"diagnostic-whole-genome-sequencing-for-rare-diseases-qa-with-dr-stephen-kingsmore-part-1","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/vi\/operations\/sequencing\/diagnostic-whole-genome-sequencing-for-rare-diseases-qa-with-dr-stephen-kingsmore-part-1\/","title":{"rendered":"Gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 gen d\u00e0nh cho ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm: H\u1ecfi \u0111\u00e1p v\u1edbi Ti\u1ebfn s\u0129 Stephen Kingsmore (Ph\u1ea7n 1)"},"content":{"rendered":"<p class=\"text-align-justify\">L\u00e0 Ch\u1ee7 t\u1ecbch v\u00e0 Gi\u00e1m \u0111\u1ed1c \u0110i\u1ec1u h\u00e0nh c\u1ee7a <a href=\"https:\/\/radygenomics.org\/\" target=\"_blank\" rel=\"noopener\">Rady Children\u2019s Institute<\/a> for Genomic Medicine, Ti\u1ebfn s\u0129 Stephen Kingsmore \u0111\u00f3ng vai tr\u00f2 quan tr\u1ecdng trong vi\u1ec7c th\u00fac \u0111\u1ea9y kh\u1ea3 n\u0103ng ti\u1ebfp c\u1eadn v\u1edbi c\u00e1c d\u1ecbch v\u1ee5 gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 gen (whole genome sequencing, WGS) d\u00e0nh cho ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm cho tr\u1ebb em c\u00f3 c\u00e1c tri\u1ec7u ch\u1ee9ng c\u1ee7a b\u1ec7nh di truy\u1ec1n. Trong ph\u1ea7n h\u1ecfi \u0111\u00e1p n\u00e0y v\u1edbi Will Greene, Ti\u1ebfn s\u0129 Kingsmore \u2013 Tr\u01b0\u1edfng nh\u00f3m T\u01b0\u01a1ng t\u00e1c Y t\u1ebf c\u1ee7a Roche Diagnostics Asia Pacific \u2013 th\u1ea3o lu\u1eadn v\u1ec1 c\u00e1ch vi\u1ec7n cung c\u1ea5p d\u1ecbch v\u1ee5 WGS ch\u1ea9n \u0111o\u00e1n nhanh cho kho\u1ea3ng 90 b\u1ec7nh vi\u1ec7n nhi tr\u00ean kh\u1eafp B\u1eafc M\u1ef9. \u00d4ng c\u0169ng chia s\u1ebb hi\u1ec3u bi\u1ebft v\u1ec1 nh\u1eefng xu h\u01b0\u1edbng c\u00f4ng ngh\u1ec7 \u0111ang gi\u00fap c\u00e1c d\u1ecbch v\u1ee5 n\u00e0y tr\u1edf n\u00ean m\u1ea1nh m\u1ebd h\u01a1n v\u00e0 ti\u1ebft ki\u1ec7m chi ph\u00ed, c\u0169ng nh\u01b0 t\u00e1c \u0111\u1ed9ng ti\u1ec1m n\u0103ng c\u1ee7a ch\u00fang \u0111\u1ed1i v\u1edbi th\u1ef1c h\u00e0nh y h\u1ecdc ph\u00f2ng x\u00e9t nghi\u1ec7m.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>L\u00e0 Ch\u1ee7 t\u1ecbch v\u00e0 Gi\u00e1m \u0111\u1ed1c \u0110i\u1ec1u h\u00e0nh c\u1ee7a Rady Children\u2019s Institute for Genomic Medicine, Ti\u1ebfn s\u0129 Stephen Kingsmore \u0111\u00f3ng vai tr\u00f2 quan tr\u1ecdng trong vi\u1ec7c th\u00fac \u0111\u1ea9y kh\u1ea3 n\u0103ng ti\u1ebfp c\u1eadn v\u1edbi c\u00e1c d\u1ecbch v\u1ee5 gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 gen (whole genome sequencing, WGS) d\u00e0nh cho ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm cho tr\u1ebb em [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":91139,"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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