{"id":360,"date":"2021-07-08T03:55:04","date_gmt":"2021-07-07T19:55:04","guid":{"rendered":"http:\/\/hkgp.org\/discover-genomics\/genomics\/%e5%85%a8%e5%9f%ba%e5%9b%a0%e7%b5%84%e6%b8%ac%e5%ba%8f\/"},"modified":"2022-05-12T11:50:52","modified_gmt":"2022-05-12T03:50:52","slug":"%e5%85%a8%e5%9f%ba%e5%9b%a0%e7%b5%84%e6%b8%ac%e5%ba%8f","status":"publish","type":"page","link":"https:\/\/hkgp.org\/tc\/discover-genomics\/genomics\/%e5%85%a8%e5%9f%ba%e5%9b%a0%e7%b5%84%e6%b8%ac%e5%ba%8f\/","title":{"rendered":"\u5168\u57fa\u56e0\u7d44\u6e2c\u5e8f"},"content":{"rendered":"<p>\u8981\u4e86\u89e3\u6bcf\u4eba\u7684\u57fa\u56e0\u7d44\uff0c\u4fbf\u9700\u9032\u884c\u300c\u5168\u57fa\u56e0\u7d44\u6e2c\u5e8f\u300d\uff08Whole\u2002Genome\u2002Sequencing\uff0c\u7c21\u7a31WGS\uff09\u3002\u9032\u884c\u5168\u57fa\u56e0\u7d44\u6e2c\u5e8f\uff0c\u4e3b\u8981\u6709\u4ee5\u4e0b\u4e09\u500b\u6b65\u9a5f\uff1a<\/p>\n<p>&nbsp;<\/p>\n<p><strong>1. \u6e2c\u5e8f\uff08Sequencing\uff09<\/strong><\/p>\n<p>\u9867\u540d\u601d\u7fa9\uff0c\u6e2c\u5e8f\u4fbf\u662f\u628a\u4eba\u9ad4\u5167\u8d85\u904e30\u5104\u500bDNA\u4ee3\u78bc\u9010\u4e00\u8b80\u53d6\uff0c\u7136\u5f8c\u5168\u90e8\u6392\u5217\u51fa\u4f86\u3002<\/p>\n<p>&nbsp;<\/p>\n<p><strong>2. \u6578\u64da\u8655\u7406\uff08Data Processing\uff09<\/strong><\/p>\n<p>\u5f9e\u6e2c\u5e8f\u5f97\u51fa\u5927\u91cf\u57fa\u56e0\u7d44\u6578\u64da\u5f8c\uff0c\u751f\u7269\u4fe1\u606f\u5b78\u5bb6\u4fbf\u8981\u628a\u5b83\u5011\u8f49\u5316\u6210\u53ef\u88ab\u89e3\u8b80\u7684\u8cc7\u8a0a\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>\u9996\u5148\uff0c\u628a\u5df2\u6392\u5217\u7684DNA\u6b21\u5e8f\uff0c\u8207\u300c\u4eba\u985e\u53c3\u7167\u57fa\u56e0\u7d44\u300d \uff08Human Reference Genome\uff09\u6bd4\u5c0d\uff0c\u627e\u51fa\u57fa\u56e0\u5e8f\u5217\u4e0a\u7684\u4e0d\u540c\uff0c\u9019\u4e9b\u4e0d\u540c\u7a31\u70ba\u57fa\u56e0\u8b8a\u7570\u3002\u6bcf\u4eba\u7684\u8eab\u9ad4\u5747\u6709\u6578\u767e\u842c\u500b\u57fa\u56e0\u8b8a\u7570\uff0c\u5927\u90e8\u5206\u57fa\u56e0\u8b8a\u7570\u662f\u4e0d\u6703\u81f4\u75c5\u7684\uff0c\u53cd\u800c\u662f\u9019\u4e9b\u8b8a\u7570\uff0c\u4ee4\u6bcf\u4eba\u7684\u8eab\u9ad4\u7279\u5fb5\u53ca\u529f\u80fd\u7d50\u69cb\u5404\u4e0d\u76f8\u540c\u3002<\/p>\n<p>&nbsp;<\/p>\n<p><strong>3. \u6578\u64da\u5206\u6790\uff08Data Analysis\uff09<\/strong><\/p>\n<p>\u8981\u5728\u6578\u4ee5\u767e\u842c\u8a08\u7684\u57fa\u56e0\u8b8a\u7570\u4e2d\uff0c\u627e\u51fa\u6709\u6a5f\u6703\u5c0e\u81f4\u75be\u75c5\u7684\u57fa\u56e0\u8b8a\u7570\uff08pathogenic\/likely pathogenic variant\uff09\uff0c\u4e0d\u4f46\u9700\u8981\u4f9d\u9760\u57fa\u56e0\u7d44\u91ab\u5b78\u548c\u57fa\u56e0\u7d44\u79d1\u5b78\u7684\u77e5\u8b58\u53ca\u767c\u5c55\uff0c\u66f4\u9700\u8981\u914d\u5408\u5927\u91cf\u75c5\u4f8b\uff0c\u4f5c\u9577\u6642\u9593\u5206\u6790\u548c\u7814\u7a76\uff0c\u65b9\u6709\u6a5f\u6703\u627e\u51fa\u53ef\u80fd\u81f4\u75c5\u7684\u57fa\u56e0\u8b8a\u7570\u3002<\/p>\n<p>&nbsp;<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\" wp-image-1479 aligncenter\" src=\"https:\/\/d1zr25hgg61s9i.cloudfront.net\/wp-content\/uploads\/2021\/08\/28003148\/infographics_07-512x512.png\" alt=\"\" width=\"601\" height=\"601\" srcset=\"https:\/\/d1zr25hgg61s9i.cloudfront.net\/wp-content\/uploads\/2021\/08\/28003148\/infographics_07-512x512.png 512w, https:\/\/d1zr25hgg61s9i.cloudfront.net\/wp-content\/uploads\/2021\/08\/28003148\/infographics_07-1200x1200.png 1200w, https:\/\/d1zr25hgg61s9i.cloudfront.net\/wp-content\/uploads\/2021\/08\/28003148\/infographics_07-300x300.png 300w, https:\/\/d1zr25hgg61s9i.cloudfront.net\/wp-content\/uploads\/2021\/08\/28003148\/infographics_07-768x768.png 768w, https:\/\/d1zr25hgg61s9i.cloudfront.net\/wp-content\/uploads\/2021\/08\/28003148\/infographics_07-1536x1536.png 1536w, https:\/\/d1zr25hgg61s9i.cloudfront.net\/wp-content\/uploads\/2021\/08\/28003148\/infographics_07-1568x1568.png 1568w, https:\/\/d1zr25hgg61s9i.cloudfront.net\/wp-content\/uploads\/2021\/08\/28003148\/infographics_07.png 2048w\" sizes=\"auto, (max-width: 601px) 100vw, 601px\" \/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u8981\u4e86\u89e3\u6bcf\u4eba\u7684\u57fa\u56e0\u7d44\uff0c\u4fbf\u9700\u9032\u884c\u300c\u5168\u57fa\u56e0\u7d44\u6e2c\u5e8f\u300d\uff08Whole\u2002Genome\u2002Sequencing\uff0c\u7c21\u7a31WGS\uff09\u3002\u9032&hellip; 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