{"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\/ja\/enfermedades-no-diagnosticables-por-secuenciacion\/","title":{"rendered":"\u30b7\u30fc\u30b1\u30f3\u30b9\u306b\u3088\u3063\u3066\u8a3a\u65ad\u3067\u304d\u306a\u3044\u75c5\u6c17\u3002"},"content":{"rendered":"<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u5236\u9650: <\/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, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-13-300x182.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-13-768x465.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-13-18x12.png 18w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-2f05c5c2\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>\u30a8\u30af\u30bd\u30fc\u30e0\u306e\u5916\u5074\u306b\u3042\u308b\u5909\u7570\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\/ja\/mutaciones-intronicas-profundas\/\">\u6df1\u3044\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\u3002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/neuropediatoolkit.org\/ja\/enfermedades-mitocondriales\/\" title=\"\">\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\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>\u30a8\u30af\u30bd\u30fc\u30e0\u5185\u306b\u5b58\u5728\u3059\u308b\u304c\u3001\u305d\u306e\u907a\u4f1d\u7684\u5909\u7570\u306e\u7a2e\u985e\u304c\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u3063\u3066\u7279\u5b9a\u3067\u304d\u306a\u3044\u75be\u60a3\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\/ja\/str-short-tandem-repeat-disorders\/\">\u30c8\u30ea\u30d7\u30ec\u30c3\u30c8\u62e1\u5f35\uff08\u77ed\u3044\u30bf\u30f3\u30c7\u30e0\u30ea\u30d4\u30fc\u30c8\uff09\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75c5\u6c17\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, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-10-768x586.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-10-16x12.png 16w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-10.png 1069w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/resources_Table1\/?report=reader\">\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u307e\u305f\u306f\u7247\u89aa\u6027\u30c0\u30a4\u30bd\u30df\u30fc\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75c5\u6c17\u3002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/neuropediatoolkit.org\/ja\/sindromes-de-microdeleccion-y-microduplicacion\/\" title=\"\">\u69cb\u9020\u306e\u518d\u69cb\u6210\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75c5\u6c17\u3002<\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"607\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-9-1024x607.png\" alt=\"\" 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>\u30a8\u30af\u30bd\u30fc\u30e0\u5185\u306b\u5b58\u5728\u3057\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u3063\u3066\u7279\u5b9a\u3067\u304d\u308b\u304c\u3001\u30b7\u30e7\u30c3\u30c8\u30ac\u30f3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u306e\u7d50\u679c\u3068\u3057\u3066\u6280\u8853\u7684\u306a\u8ab2\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3: <\/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\">\u507d\u907a\u4f1d\u5b50\u3002<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/ja\/mosaicismo-y-neuropediatria\/\">\u4f53\u6027\u30e2\u30b6\u30a4\u30af\u4e3b\u7fa9\u3002<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/ja\/delecciones-intragenicas-exon-level-deletions\/\">\u907a\u4f1d\u5b50\u5185\u306e\u6b20\u5931\uff08\u30a8\u30af\u30bd\u30f3\u30ec\u30d9\u30eb\u306e\u6b20\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>\u30a8\u30af\u30bd\u30fc\u30e0\u5185\u306b\u5b58\u5728\u3057\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u30b5\u30f3\u30ac\u30fc\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u3063\u3066\u7279\u5b9a\u3067\u304d\u308b\u304c\u3001PCR \u5897\u5e45\u30d7\u30ed\u30bb\u30b9\u306e\u7d50\u679c\u3068\u3057\u3066\u6280\u8853\u7684\u306a\u8ab2\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3: <\/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=\"\">\u30b2\u30ce\u30e0\u5185\u306e GC \u6bd4\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>\u305d\u306e\u4ed6\u306e\u5236\u9650: <\/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\" title=\"\">\u6bb5\u968e\u7684\u3002<\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"629\" height=\"373\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-8.png\" alt=\"\" class=\"wp-image-7436\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-8.png 629w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-8-300x178.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-8-18x12.png 18w\" sizes=\"(max-width: 629px) 100vw, 629px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"765\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-7-1024x765.png\" alt=\"\" class=\"wp-image-7435\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-7-1024x765.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-7-300x224.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-7-768x573.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-7-16x12.png 16w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/06\/image-7.png 1034w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306e\u5236\u9650:<\/p>","protected":false},"author":1,"featured_media":2270,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-1833","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/1833","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/comments?post=1833"}],"version-history":[{"count":12,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/1833\/revisions"}],"predecessor-version":[{"id":7452,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/1833\/revisions\/7452"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media\/2270"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media?parent=1833"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/categories?post=1833"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/tags?post=1833"}],"curies":[{"name":"\u3046\u30fc\u3093","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}