{"author_url":"https://blog.hatena.ne.jp/kazumaxneo/","title":"SV\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\u306e\u305f\u3081\u306e\u7d71\u5408web\u30c4\u30fc\u30eb AnnotSV 2023\u30a2\u30c3\u30d7\u30c7\u30fc\u30c8","html":"<iframe src=\"https://hatenablog-parts.com/embed?url=https%3A%2F%2Fkazumaxneo.hatenablog.com%2Fentry%2F2025%2F10%2F31%2F130704\" title=\"SV\u30a2\u30ce\u30c6\u30fc\u30b7\u30e7\u30f3\u306e\u305f\u3081\u306e\u7d71\u5408web\u30c4\u30fc\u30eb AnnotSV 2023\u30a2\u30c3\u30d7\u30c7\u30fc\u30c8 - mac\u3067\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\" class=\"embed-card embed-blogcard\" scrolling=\"no\" frameborder=\"0\" style=\"display: block; width: 100%; height: 190px; max-width: 500px; margin: 10px 0px;\"></iframe>","provider_name":"Hatena Blog","blog_url":"https://kazumaxneo.hatenablog.com/","description":"\u30d2\u30c8\u907a\u4f1d\u5b50\u306e\u30d0\u30ea\u30a2\u30f3\u30c8\u30ec\u30d1\u30fc\u30c8\u30ea\u30fc\u306e\u591a\u304f\u306f\u3001\u4e00\u5869\u57fa\u591a\u578b\uff08SNV\uff09\u3068small indel\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u69cb\u9020\u591a\u578b\uff08SV\uff09\u306f\u4f9d\u7136\u3068\u3057\u3066\u79c1\u305f\u3061\u306e\u5909\u7570DNA\u306e\u4e3b\u8981\u306a\u90e8\u5206\u3092\u5360\u3081\u3066\u3044\u308b\u3002SV\u306e\u691c\u51fa\u306f\u3001\u5404\u30ab\u30c6\u30b4\u30ea\u30fc\u306eSV\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306b\u7570\u306a\u308b\u6280\u8853\uff08\u30a2\u30ec\u30a4CGH\u3001SNP\u30a2\u30ec\u30a4\u3001\u6838\u578b\u5206\u6790\u3001\u30aa\u30d7\u30c6\u30a3\u30ab\u30eb\u30b2\u30ce\u30e0\u30de\u30c3\u30d4\u30f3\u30b0\u306a\u3069\uff09\u3092\u4f7f\u7528\u3059\u308b\u5fc5\u8981\u304c\u3042\u308b\u304b\u3001\u9069\u5207\u306a\u89e3\u50cf\u5ea6\uff08\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff09\u3092\u5f97\u308b\u5fc5\u8981\u304c\u3042\u308b\u305f\u3081\u3001\u3057\u3070\u3057\u3070\u8907\u96d1\u306a\u8ab2\u984c\u3067\u3042\u3063\u305f\u3002\u30d1\u30f3\u30b2\u30ce\u30e0\u89e3\u6790\u306e\u7206\u767a\u7684\u306a\u5897\u52a0\u306b\u3088\u308a\u3001\u30d2\u30c8\u907a\u4f1d\u5b66\u8005\u306fSV\u3092\u84c4\u7a4d\u3057\u3066\u3044\u308b\u304c\u3001\u305d\u306e\u89e3\u91c8\u306f\u4f9d\u7136\u3068\u3057\u3066\u6642\u9593\u3068\u52b4\u529b\u3092\u8981\u3059\u308b\u56f0\u96e3\u306a\u4f5c\u696d\u3067\u3042\u308b\u3002AnnotSV\u30a6\u30a7\u30d6\u30b5\u30fc\u30d0\u30fc\uff08https://w\u2026","categories":["2023","human whole genome","human de novo mutation","web tool","2018","Nucleic Acids Research","Bioinformatics","structural variations (SV)","database","2021","variant ranking","clinical and diagnostic"],"image_url":"https://cdn-ak.f.st-hatena.com/images/fotolife/k/kazumaxneo/20251031/20251031125254.png","url":"https://kazumaxneo.hatenablog.com/entry/2025/10/31/130704","version":"1.0","width":"100%","blog_title":"mac\u3067\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9","author_name":"kazumaxneo","published":"2025-10-31 13:07:04","height":"190","type":"rich","provider_url":"https://hatena.blog"}