{"id":33,"date":"2017-03-05T13:20:00","date_gmt":"2017-03-05T05:20:00","guid":{"rendered":"https:\/\/www.next-bioinfo.tw\/?p=33"},"modified":"2023-09-04T14:16:20","modified_gmt":"2023-09-04T06:16:20","slug":"%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4","status":"publish","type":"post","link":"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/","title":{"rendered":"\u3010NGS \u6b21\u4e16\u4ee3\u57fa\u56e0\u9ad4\u8cc7\u6599\u79d1\u5b78\u3011 \u57fa\u790e\u6559\u5b78 01 \u5e38\u898b\u540d\u8a5e\u6574\u7406"},"content":{"rendered":"<p>\u9019\u6574\u7406\u4e86NGS\u8cc7\u6599\u5206\u6790\u6240\u9700\u8981\u77e5\u9053\u7684\u4e00\u4e9b\u57fa\u672c\u8853\u8a9e\uff0c\u65b9\u4fbf\u5165\u9580\u7684\u8cc7\u6599\u5206\u6790\u5e2b\u53ef\u4ee5\u5feb\u901f\u4e0a\u624b\u9019\u4e9b\u6982\u5ff5\uff0c\u7279\u5225\u662f\u4e0d\u719f\u6089\u751f\u7269\u91ab\u5b78\u8853\u8a9e\u65b9\u9762\u7684\u8edf\u9ad4\u5de5\u7a0b\u5e2b\u3002<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_54_1 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" >Table of Contents<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\" role=\"button\"><label for=\"item-6a6d4b96da6b5\" ><span class=\"\"><span style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewbox=\"0 0 24 24\" version=\"1.2\" baseprofile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/label><input aria-label=\"Toggle\" type=\"checkbox\"  id=\"item-6a6d4b96da6b5\"><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1' ><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#chromosome_%E6%9F%93%E8%89%B2%E9%AB%94\" title=\"chromosome&nbsp; \u67d3\u8272\u9ad4\">chromosome&nbsp; \u67d3\u8272\u9ad4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#gene_%E5%9F%BA%E5%9B%A0\" title=\"gene \u57fa\u56e0\">gene \u57fa\u56e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#loci_%E4%BD%8D%E9%BB%9E\" title=\"loci \u4f4d\u9ede\">loci \u4f4d\u9ede<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#reads_%E8%AE%80%E5%BA%8F\" title=\"reads \u8b80\u5e8f\">reads \u8b80\u5e8f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#bp_%E9%B9%BC%E5%9F%BA%E5%B0%8D\" title=\"bp \u9e7c\u57fa\u5c0d\">bp \u9e7c\u57fa\u5c0d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#sequencing_depth_%E5%AE%9A%E5%BA%8F%E6%B7%B1%E5%BA%A6\" title=\"sequencing depth \u5b9a\u5e8f\u6df1\u5ea6&nbsp;\">sequencing depth \u5b9a\u5e8f\u6df1\u5ea6&nbsp;<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#proto-oncogene_%E5%8E%9F%E7%99%8C%E5%9F%BA%E5%9B%A0\" title=\"proto-oncogene \u539f\u764c\u57fa\u56e0\">proto-oncogene \u539f\u764c\u57fa\u56e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#oncogene_%E7%99%8C%E7%97%87%E5%9F%BA%E5%9B%A0\" title=\"oncogene \u764c\u75c7\u57fa\u56e0\">oncogene \u764c\u75c7\u57fa\u56e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#in-situ_%E5%8E%9F%E4%BD%8D\" title=\"in-situ \u539f\u4f4d\">in-situ \u539f\u4f4d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#carcinoma_in_situ_%E5%8E%9F%E4%BD%8D%E7%99%8C\" title=\"carcinoma in situ \u539f\u4f4d\u764c\">carcinoma in situ \u539f\u4f4d\u764c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#genotype_vs_phenotype\" title=\"genotype vs phenotype\">genotype vs phenotype<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#wild_type_vs_mutant\" title=\"wild type vs mutant\">wild type vs mutant<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#knock-out\" title=\"knock-out\">knock-out<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#genotyping\" title=\"genotyping\">genotyping<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#somatic_mutations_vs_germline_mutations\" title=\"somatic mutations vs germline mutations\">somatic mutations vs germline mutations<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#syndrome_%E7%97%87%E5%80%99%E7%BE%A4\" title=\"syndrome \u75c7\u5019\u7fa4\">syndrome \u75c7\u5019\u7fa4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#symptom%E7%97%87%E7%8B%80\" title=\"symptom\u75c7\u72c0\">symptom\u75c7\u72c0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#sign_%E5%BE%B5%E5%80%99\" title=\"sign \u5fb5\u5019\">sign \u5fb5\u5019<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.next-bioinfo.tw\/en\/2017\/03\/%e3%80%90ngs-%e6%ac%a1%e4%b8%96%e4%bb%a3%e5%9f%ba%e5%9b%a0%e9%ab%94%e8%b3%87%e6%96%99%e7%a7%91%e5%ad%b8%e3%80%91-%e5%9f%ba%e7%a4%8e%e6%95%99%e5%ad%b8-01-%e5%b8%b8%e8%a6%8b%e5%90%8d%e8%a9%9e%e6%95%b4\/#protocol\" title=\"protocol&nbsp;\">protocol&nbsp;<\/a><\/li><\/ul><\/nav><\/div>\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"chromosome_%E6%9F%93%E8%89%B2%E9%AB%94\"><\/span>chromosome&nbsp; \u67d3\u8272\u9ad4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u7e2e\u5bebchr\uff0c\u4f4d\u65bc\u7d30\u80de\u6838\u5167\u90e8\u7531DNA\u548c\u7d44\u86cb\u767d\u7d44\u6210\u3002\u5927\u591a\u60c5\u6cc1\u4e0b\uff0c\u4e00\u865f\u67d3\u8272\u9ad4\u6703\u5beb\u6210chr1\uff0c\u4e8c\u865f\u67d3\u8272\u9ad4\u5beb\u6210chr2\uff0cX\u67d3\u8272\u9ad4\u5beb\u6210chrX\uff0c\u5176\u4ed6\u4ee5\u6b64\u985e\u63a8\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"gene_%E5%9F%BA%E5%9B%A0\"><\/span>gene \u57fa\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u50b3\u8cc7\u8a0a\u7684\u57fa\u672c\u55ae\u4f4d\uff0c\u5728DNA\u5e8f\u5217\u4e0a\u662f\u4e00\u500b\u7279\u5b9a\u7684\u5340\u6bb5\u3002\u57fa\u56e0\u7684\u540d\u5b50\u53eb\u505a gene symbol\uff0c\u53e6\u5916\u8b58\u5225\u865f\u53ebgene ID\u3002\u5e38\u898b\u7684ID\u7cfb\u7d71\u70baEnsembl(\u6b50\u6d32)\u548cNCBI(\u7f8e\u570b)\u3002\u8dd1\u5206\u6790\u7684\u6642\u5019\u52d9\u5fc5\u6ce8\u610f\u7cfb\u7d71\u9700\u6c42\uff0c\u5fc5\u8981\u7684\u6642\u5019\u9700\u505a\u57fa\u56e0ID\u6216\u540d\u7a31\u4e4b\u9593\u7684\u8f49\u63db\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"loci_%E4%BD%8D%E9%BB%9E\"><\/span>loci \u4f4d\u9ede<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5373\u6307\u6d89DNA\u5e8f\u5217\u4e0a\u7684\u67d0\u500b\u7279\u5b9a\u7684\u4f4d\u7f6e\uff0c\u55ae\u6578\u662flocus\u3002\u4e2d\u6587\u7ffb\u8b6f\u4e5f\u4f5c\u57fa\u56e0\u5ea7\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"reads_%E8%AE%80%E5%BA%8F\"><\/span>reads \u8b80\u5e8f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DNA\u7247\u6bb5\u7d93\u904e\u9ad8\u901a\u91cf\u5b9a\u5e8f\u5100\u6e2c\u5f97\u7684\u5e8f\u5217\u8cc7\u8a0a(\u4e5f\u5c31\u662f\u4e00\u4e32\u6838\u82f7\u9178ATCG\u7684\u8cc7\u6599)\u7a31\u70bareads\uff0c\u901a\u5e38\u6703\u7528fastq\u683c\u5f0f\u5132\u5b58\u8a72\u6b21\u5be6\u9a57\u6240\u5f97\u5230\u7684reads\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"bp_%E9%B9%BC%E5%9F%BA%E5%B0%8D\"><\/span>bp \u9e7c\u57fa\u5c0d<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>base pair : \u7e2e\u5bebbp\uff0c\u5373\u9e7c\u57fa\u5c0d\uff0c\u5c31\u662f\u6307\u4e00\u500bDNA\u5bc6\u78bc(\u7531\u65bc\u662f\u96d9\u80a1\u5448\u4e00\u5c0d\uff0c\u6240\u4ee5\u7a31pair)\u3002\u5728\u9019\u9818\u57dfbp\u5e38\u7528\u4f86\u7576\u55ae\u4f4d\u4f7f\u7528\u3002\u4e00\u5343\u500bbase pair \u7c21\u5bebKbp\uff0c\u4e00\u767e\u842c\u500bbase pair \u7c21\u5beb\u6210Mbp\u3002\u53ef\u4ee5\u7528\u4f86\u8868\u793a\u67d0\u500b\u4f4d\u9ede\u3002\u4f8b\u5982\u5e38\u8207\u4e73\u764c\u95dc\u806f\u7684\u6291\u764c\u57fa\u56e0\uff08Tumor Suppressor Gene\uff09BRCA1\u4f4d\u4e8e\u4ee5hg19\u70ba\u5ea7\u6a19\uff0c\u7684chr17\uff08\u7b2c17\u865f\u67d3\u8272\u9ad4\uff09 \u768441.196312 Mbp \u5230 41.2775 Mbp \u4e4b\u9593\u3002<\/p>\n\n\n\n<p>\u53c8\u4f8b\u5982\u4eba\u985e\u7684\u57fa\u56e0\u7d44\u6578\u91cf\u7d04\u70ba30\u5104\u500b bp\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"sequencing_depth_%E5%AE%9A%E5%BA%8F%E6%B7%B1%E5%BA%A6\"><\/span>sequencing depth \u5b9a\u5e8f\u6df1\u5ea6&nbsp;<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9a\u5e8f\u7684 reads\u7684\u7e3dbp\u6578\u91cf\u548c\u5b9a\u5e8f\u6a19\u7684\uff08\u4f8b\u5982\u5168\u57fa\u56e0\u7d44\uff09\u7684\u5927\u5c0f\u7684\u500d\u6578\uff0c\u4f8b\u5982\u5b9a\u5e8f\u5f97\u5230\u7684reads\u7684\u7e3dbp\u662f20GB\uff0c\u800c\u6a19\u7684\u6578\u91cf\u662f2G\uff0c\u5247\u5b9a\u5e8f\u6df1\u5ea6 \u7d04\u70ba20\/2=10\uff0c10X\uff0c\u5373\u5b9a\u5e8f\u6df1\u5ea6\u70ba10\u500d\u3002\u901a\u5e38\u5b9a\u5e8f\u6df1\u5ea6\u8d8a\u6df1\uff0c\u539f\u672c\u770b\u4e0d\u5230\u7684\u8a0a\u865f\u6703\u6bd4\u8f03\u5bb9\u6613\u6293\u5230\uff0c\u7576\u7136\u5b9a\u5e8f\u6df1\u5ea6\u8d8a\u6df1\u6578\u64da\u8d8a\u591a\u800c\u4e14\u8d8a\u6602\u8cb4\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"proto-oncogene_%E5%8E%9F%E7%99%8C%E5%9F%BA%E5%9B%A0\"><\/span>proto-oncogene \u539f\u764c\u57fa\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6307\u7684\u662f\u8207\u764c\u75c7\u6709\u95dc\u4f46\u4f4d\u65bc\u6b63\u5e38\u7d30\u80de\u7684\u57fa\u56e0\u3002\u901a\u5e38\u8207\u589e\u6b96\u548c\u5206\u5316\u6709\u95dc\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"oncogene_%E7%99%8C%E7%97%87%E5%9F%BA%E5%9B%A0\"><\/span>oncogene \u764c\u75c7\u57fa\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e5f\u7a31\u81f4\u764c\u57fa\u56e0\uff0c\u6307\u7684\u662f\u5e8f\u5217\u7570\u5e38\u4e26\u81f3\u764c\u75c7\u7684\u57fa\u56e0\uff0cproto-oncogene\u767c\u751f\u7a81\u8b8a\u7522\u751f\u764c\u75c7\u4e4b\u5f8c\u5c31\u88ab\u7a31\u70baoncogene\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"in-situ_%E5%8E%9F%E4%BD%8D\"><\/span>in-situ \u539f\u4f4d<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>in-situ \u662f\u62c9\u4e01\u8a9e\uff0c\u539f\u672c\u7684\u4f4d\u7f6e\uff0c\u5c31\u5730\u7684\u610f\u601d\uff0c\u4e00\u822c\u7ffb\u4f5c\u539f\u4f4d\u3002\u4f8b\u5982\u539f\u4f4d\u96dc\u4ea4\u6280\u8853\uff08In Situ Hybridization , ISH\uff09<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"carcinoma_in_situ_%E5%8E%9F%E4%BD%8D%E7%99%8C\"><\/span>carcinoma in situ \u539f\u4f4d\u764c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>carcinoma\u662f\u62c9\u4e01\u8a9e\u764c\u7684\u610f\u601d\uff0ccarcinoma in situ\u7ffb\u4f5c\u539f\u4f4d\u764c\uff0c\u6307\u5c1a\u672a\u5165\u4fb5\u5176\u4ed6\u7d44\u7e54\u4f4d\u7f6e\u7684\u764c\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"genotype_vs_phenotype\"><\/span>genotype vs phenotype<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>genotype\u5373\u57fa\u56e0\u578b\uff0c\u4e5f\u5c31\u662f\u500b\u9ad4\u7684\u57fa\u56e0\u5bc6\u78bc\u7684\u7de8\u6392\uff0cphenotype\u5373\u8868\u73fe\u578b\uff0c\u4e5f\u5c31\u662f\u500b\u9ad4\u7684\u751f\u7269\u5916\u5728\u8868\u73fe\u3002\u7136\u800c\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0c\u4e0d\u540c\u7684genotype\u53ef\u4ee5\u5c0e\u81f4\u985e\u4f3c\u7684phenotype\u3002\u800c\u540c\u6a23\u7684\u7684genotype\u4e5f\u80fd\u5c0e\u81f4\u4e0d\u540c\u7684phenotype\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"wild_type_vs_mutant\"><\/span>wild type vs mutant<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>wild type\u5373\u91ce\u751f\u578b\uff0c\u4e5f\u5c31\u662f\u7269\u7a2e\u5927\u591a\u6578\u81ea\u7136\u7684\u60c5\u6cc1\u7684\u57fa\u56e0\u5e8f\u5217\u901a\u5e38\u7e2e\u5beb WT \uff0c\u76f8\u5c0d\u65bc mutant \u7a81\u8b8a\u578b\u3002mutant \u7a81\u8b8a\u578b\u53ef\u80fd\u662f\u7d93\u904e\u4eba\u5de5\u8a98\u5c0e\u7522\u751f\u7684\u3002\u5e38\u898b\u7684\u5be6\u9a57\u5c0d\u6bd4\u6703\u662fWT vs MT<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"knock-out\"><\/span>knock-out<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u662f\u6307gene knock-out\uff0c\u4e5f\u5c31\u662f\u53bb\u9664\u7279\u5b9a\u57fa\u56e0\u7684\u5be6\u9a57\u52d5\u7269\u3002\u901a\u5e38\u7e2e\u5bebKO\u3002\u5e38\u898b\u7684\u5be6\u9a57\u5c0d\u6bd4\u6703\u662fWT vs KO \uff0c\u6216\u662fWT vs Tumor\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"genotyping\"><\/span>genotyping<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>genotyping\u5373\u57fa\u56e0\u5206\u578b\uff0c\u5982\u679c\u662f\u5728\u5be6\u9a57\u5ba4\u5176\u610f\u601d\u662f\u5340\u5206wild type \u548c mutant\u7684\u5be6\u9a57\u52d5\u7269\u3002\u5982\u679c\u662f\u5be6\u9a57\u9f20\uff0c\u53ef\u80fd\u6703\u4ee5\u6253\u8033\u6d1e\u6216\u662f\u526a\u5c3e\u5df4\u7684\u65b9\u5f0f\u53d6\u5f97DNA\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"somatic_mutations_vs_germline_mutations\"><\/span>somatic mutations vs germline mutations<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>somatic mutations\u662f\u9ad4\u7d30\u80de\u7a81\u8b8a\uff0c\u4e26\u4e0d\u6703\u907a\u50b3\u7684\u7a81\u8b8a\u3002germline mutation\u662f\u751f\u6b96\u7cfb\u7a81\u8b8a\uff0c\u4ea6\u5373\u767c\u751f\u5728\u751f\u6b96\u7d30\u80de(\u4f8b\u5982\u7cbe\u5375)\u7684\u7a81\u8b8a\uff0c\u751f\u6b96\u7cfb\u7a81\u8b8a\u53ef\u907a\u50b3\u3002\u50cf\u4e73\u764c\u7684BRCA\u7a81\u8b8a\u5c31\u662fgermline mutation\uff0c\u80ba\u764c\u5e38\u898b\u7684ERGF\u7a81\u8b8a\u5c31\u662fsomatic mutations\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"syndrome_%E7%97%87%E5%80%99%E7%BE%A4\"><\/span>syndrome \u75c7\u5019\u7fa4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d0\u4e9b\u75be\u75c5\u4e00\u7cfb\u5217\u7684\u81e8\u5e8a\u7279\u5fb5\u3001\u75c7\u72c0\u3002\u4f8b\u5982\u67d3\u8272\u9ad4\u75be\u4e4b\u4e00\u7684\u6b4c\u821e\u4f0e\u75c7\u5019\u7fa4 Kabuki Syndrome\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"symptom%E7%97%87%E7%8B%80\"><\/span>symptom\u75c7\u72c0<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u72f9\u7fa9\u4e0a\u6307\u6d89\u300c\u4f86\u81ea\u75c5\u4eba\u7684\u4e3b\u89c0\u611f\u53d7\u300d\u7684\u75be\u75c5\u75c7\u72c0\uff0c\u7121\u6cd5\u76f4\u63a5\u5ba2\u89c0\u6e2c\u91cf\uff0c\u4f8b\u5982\u982d\u75db\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"sign_%E5%BE%B5%E5%80%99\"><\/span>sign \u5fb5\u5019<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u72f9\u7fa9\u4e0a\u6307\u6d89\uff0c\u9ad4\u5fb5\u3001\u75c5\u5fb5\uff0c\u91ab\u751f\u80fd\u5ba2\u89c0\u91cf\u7684\u75be\u75c5\u73fe\u8c61\u7684\u8cc7\u8a0a\uff0c\u4f8b\u5982\u5fc3\u8df3\u901f\u7387\u3002\u6709\u6642\u5019\u5ee3\u7fa9\u4e0a\u6703\u7528symptom\u4ee3\u66ffsign\u4f86\u4f7f\u7528\uff0c\u4f46\u72f9\u7fa9\u4e0a\u9084\u662f\u6709\u6240\u5340\u5206\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"protocol\"><\/span>protocol&nbsp;<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u8edf\u9ad4\u9818\u57df\u662f\u6307\u901a\u8a0a\u5354\u5b9a\uff0c\u4f8b\u5982TCP\u7684P\uff0cHTTP\u7684P\u3002\u4e0d\u904e\u5728\u751f\u91ab\u9818\u57df\uff0cprotocol\u662f\u6307\u751f\u7269\u5be6\u9a57\u7684\u88fd\u4f5c\u914d\u65b9\u548c\u5be6\u9a57\u6d41\u7a0b\u3002\u4f8b\u5982\u6eab\u5ea6\uff0c\u7d14\u5316\u7684\u65b9\u5f0f\u7b49\u7b49\u3002<\/p>","protected":false},"excerpt":{"rendered":"<p>\u9019\u6574\u7406\u4e86NGS\u8cc7\u6599\u5206\u6790\u6240\u9700\u8981\u77e5\u9053\u7684\u4e00\u4e9b\u57fa\u672c\u8853\u8a9e\uff0c\u65b9\u4fbf\u5165\u9580\u7684\u8cc7\u6599\u5206\u6790\u5e2b\u53ef\u4ee5\u5feb\u901f\u4e0a\u624b\u9019\u4e9b\u6982\u5ff5\uff0c\u7279\u5225\u662f\u4e0d\u719f\u6089\u751f\u7269\u91ab\u5b78 [&hellip;]<\/p>","protected":false},"author":1,"featured_media":227,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_mi_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"site-container-style":"default","site-container-layout":"default","site-sidebar-layout":"default","site-transparent-header":"default","disable-article-header":"default","disable-site-header":"default","disable-site-footer":"default","disable-content-area-spacing":"default","footnotes":""},"categories":[2],"tags":[4,5,3],"_links":{"self":[{"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/posts\/33"}],"collection":[{"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/comments?post=33"}],"version-history":[{"count":2,"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/posts\/33\/revisions"}],"predecessor-version":[{"id":35,"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/posts\/33\/revisions\/35"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/media\/227"}],"wp:attachment":[{"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/media?parent=33"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/categories?post=33"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.next-bioinfo.tw\/en\/wp-json\/wp\/v2\/tags?post=33"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}