{"id":1833,"date":"2022-08-14T09:10:23","date_gmt":"2022-08-14T09:10:23","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=1833"},"modified":"2024-06-24T11:36:00","modified_gmt":"2024-06-24T11:36:00","slug":"enfermedades-no-diagnosticables-por-secuenciacion","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/zh\/enfermedades-no-diagnosticables-por-secuenciacion\/","title":{"rendered":"\u65e0\u6cd5\u901a\u8fc7\u6d4b\u5e8f\u8bca\u65ad\u7684\u75be\u75c5\u3002"},"content":{"rendered":"<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u7684\u5c40\u9650\u6027\uff1a <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"620\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-13.png\" alt=\"\" class=\"wp-image-7441\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-13.png 1024w, 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title=\"\">\u7ebf\u7c92\u4f53\u75be\u75c5\u3002<\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"575\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-11-1024x575.png\" alt=\"\" class=\"wp-image-7439\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-11-1024x575.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-11-300x168.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-11-768x431.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-11-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-11.png 1347w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>\u4f4d\u4e8e\u5916\u663e\u5b50\u7ec4\u4e2d\uff0c\u4f46\u5176\u9057\u4f20\u53d8\u5f02\u7c7b\u578b\u65e0\u6cd5\u901a\u8fc7\u6d4b\u5e8f\u8bc6\u522b\u7684\u75be\u75c5\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/zh\/str-short-tandem-repeat-disorders\/\">\u7531\u4e09\u8054\u4f53\u6269\u589e\uff08\u77ed\u4e32\u8054\u91cd\u590d\uff09\u5f15\u8d77\u7684\u75be\u75c5\u3002<\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"782\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-10-1024x782.png\" alt=\"\" class=\"wp-image-7438\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-10-1024x782.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-10-300x229.png 300w, 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class=\"wp-image-7437\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-9-1024x607.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-9-300x178.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-9-768x455.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-9-18x12.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-9.png 1340w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>\u4f4d\u4e8e\u5916\u663e\u5b50\u7ec4\u7684\u75be\u75c5\uff0c\u5355\u57fa\u56e0\uff0c\u53ef\u901a\u8fc7\u6851\u683c\u6d4b\u5e8f\u8bc6\u522b\uff0c\u4f46\u9e1f\u67aa\u6cd5\u6d4b\u5e8f\u5e26\u6765\u4e86\u6280\u672f\u6311\u6218\uff1a <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"926\" height=\"766\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-15.png\" alt=\"\" class=\"wp-image-7446\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-15.png 926w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-15-300x248.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-15-768x635.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-15-15x12.png 15w\" sizes=\"(max-width: 926px) 100vw, 926px\" \/><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/resources_Table3\/?report=reader\">\u5047\u57fa\u56e0\u3002<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/zh\/mosaicismo-y-neuropediatria\/\">\u4f53\u7ec6\u80de\u5d4c\u5408\u4f53\u3002<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/zh\/delecciones-intragenicas-exon-level-deletions\/\">\u57fa\u56e0\u5185\u7f3a\u5931\uff08\u5916\u663e\u5b50\u6c34\u5e73\u7f3a\u5931\uff09\u3002<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>\u4f4d\u4e8e\u5916\u663e\u5b50\u7ec4\u7684\u75be\u75c5\uff0c\u5355\u57fa\u56e0\uff0c\u53ef\u901a\u8fc7\u6851\u683c\u6d4b\u5e8f\u8bc6\u522b\uff0c\u4f46\u7531\u4e8e PCR \u6269\u589e\u8fc7\u7a0b\u800c\u5e26\u6765\u6280\u672f\u6311\u6218\uff1a <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"260\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-16-1024x260.png\" alt=\"\" class=\"wp-image-7448\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-16-1024x260.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-16-300x76.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-16-768x195.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-16-1536x390.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-16-2048x520.png 2048w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-16-18x5.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-16-1568x398.png 1568w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/en.wikipedia.org\/wiki\/GC-content\" title=\"\">\u57fa\u56e0\u7ec4\u4e2d\u7684 G-C \u6bd4\u7387\u3002<\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"544\" height=\"649\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-14.png\" alt=\"\" class=\"wp-image-7444\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-14.png 544w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-14-251x300.png 251w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-14-10x12.png 10w\" sizes=\"(max-width: 544px) 100vw, 544px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>\u5176\u4ed6\u9650\u5236\uff1a <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/en.wikipedia.org\/wiki\/Haplotype_estimation\" 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