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基因测序 - 版本历史
2026-04-17T18:56:33Z
本wiki的该页面的版本历史
MediaWiki 1.35.1
https://www.yiliao.com/index.php?title=%E5%9F%BA%E5%9B%A0%E6%B5%8B%E5%BA%8F&diff=317233&oldid=prev
2026年3月10日 (二) 04:17 183.241.161.14
2026-03-10T04:17:53Z
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">2026年3月10日 (二) 04:17的版本</td>
</tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l132" >第132行：</td>
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<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> <div style="margin: 40px 0; width: 100%; border: 1px solid #e2e8f0; border-radius: 8px; overflow: hidden; font-family: 'Helvetica Neue', Arial, sans-serif; font-size: 0.9em;"></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> <div style="margin: 40px 0; width: 100%; border: 1px solid #e2e8f0; border-radius: 8px; overflow: hidden; font-family: 'Helvetica Neue', Arial, sans-serif; font-size: 0.9em;"></div></td></tr>
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<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> [[基因测序 (DNA Sequencing)]] · 技术演进与临床转化图谱</div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> [[基因测序 (DNA Sequencing)]] · 技术演进与临床转化图谱</div></td></tr>
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183.241.161.14
https://www.yiliao.com/index.php?title=%E5%9F%BA%E5%9B%A0%E6%B5%8B%E5%BA%8F&diff=317231&oldid=prev
2026年3月10日 (二) 04:15 183.241.161.14
2026-03-10T04:15:31Z
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<table class="diff diff-contentalign-left diff-editfont-monospace" data-mw="interface">
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">←上一版本</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">2026年3月10日 (二) 04:15的版本</td>
</tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l131" >第131行：</td>
<td colspan="2" class="diff-lineno">第131行：</td></tr>
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<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <div style="margin: 40px <del class="diffchange diffchange-inline">auto</del>; width: <del class="diffchange diffchange-inline">90</del>%; border: 1px solid #e2e8f0; border-radius: 8px; overflow: hidden; font-family: 'Helvetica Neue', Arial, sans-serif; font-size: 0.9em;"></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <div style="margin: 40px <ins class="diffchange diffchange-inline">0</ins>; width: <ins class="diffchange diffchange-inline">100</ins>%; border: 1px solid #e2e8f0; border-radius: 8px; overflow: hidden; font-family: 'Helvetica Neue', Arial, sans-serif; font-size: 0.9em;"></div></td></tr>
<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <div style="background-color: #eff6ff; color: #1e40af; padding: <del class="diffchange diffchange-inline">8px </del>15px; font-weight: bold; text-align: <del class="diffchange diffchange-inline">center</del>; border-bottom: 1px solid #dbeafe;"></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <div style="background-color: #eff6ff; color: #1e40af; padding: <ins class="diffchange diffchange-inline">10px </ins>15px; font-weight: bold; text-align: <ins class="diffchange diffchange-inline">left</ins>; border-bottom: 1px solid #dbeafe<ins class="diffchange diffchange-inline">; letter-spacing: 0.5px</ins>;"></div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> [[基因测序 (DNA Sequencing)]] · 技术演进与临床转化图谱</div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> [[基因测序 (DNA Sequencing)]] · 技术演进与临床转化图谱</div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </div></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </div></div></td></tr>
<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <table style="width: 100%; border-collapse: collapse; background-color: #ffffff; text-align: <del class="diffchange diffchange-inline">center</del>;"></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <table style="width: 100%; border-collapse: collapse; background-color: #ffffff; text-align: <ins class="diffchange diffchange-inline">left</ins>;"></div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> <tr style="border-bottom: 1px solid #f1f5f9;"></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> <tr style="border-bottom: 1px solid #f1f5f9;"></div></td></tr>
<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <td style="width: <del class="diffchange diffchange-inline">150px</del>; background-color: #f8fafc; color: #334155; font-weight: 600; padding: <del class="diffchange diffchange-inline">8px 10px</del>; vertical-align: middle;">核心技术迭代世代</td></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <td style="width: <ins class="diffchange diffchange-inline">25%</ins>; background-color: #f8fafc; color: #334155; font-weight: 600; padding: <ins class="diffchange diffchange-inline">12px 15px</ins>; vertical-align: middle<ins class="diffchange diffchange-inline">; border-right: 1px solid #f1f5f9</ins>;">核心技术迭代世代</td></div></td></tr>
<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <td style="padding: <del class="diffchange diffchange-inline">8px 10px</del>; color: #334155;"><strong>[[桑格测序|第一代 (Sanger链终止)]]</strong> • <strong>[[次世代测序|第二代 (NGS高通量)]]</strong> • <strong>[[纳米孔测序|第三代 (单分子长读长)]]</strong></td></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <td style="padding: <ins class="diffchange diffchange-inline">12px 15px</ins>; color: #334155;"><strong>[[桑格测序|第一代 (Sanger链终止)]]</strong> • <strong>[[次世代测序|第二代 (NGS高通量)]]</strong> • <strong>[[纳米孔测序|第三代 (单分子长读长)]]</strong></td></div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </tr></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </tr></div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> <tr style="border-bottom: 1px solid #f1f5f9;"></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> <tr style="border-bottom: 1px solid #f1f5f9;"></div></td></tr>
<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <td style="width: <del class="diffchange diffchange-inline">150px</del>; background-color: #f8fafc; color: #334155; font-weight: 600; padding: <del class="diffchange diffchange-inline">8px 10px</del>; vertical-align: middle;">临床应用主干战线</td></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <td style="width: <ins class="diffchange diffchange-inline">25%</ins>; background-color: #f8fafc; color: #334155; font-weight: 600; padding: <ins class="diffchange diffchange-inline">12px 15px</ins>; vertical-align: middle<ins class="diffchange diffchange-inline">; border-right: 1px solid #f1f5f9</ins>;">临床应用主干战线</td></div></td></tr>
<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <td style="padding: <del class="diffchange diffchange-inline">8px 10px</del>; color: #334155;"><strong>[[无创产前检测|NIPT (母血胎儿筛查)]]</strong> • <strong>[[伴随诊断|CDx (肿瘤靶向用药)]]</strong> • <strong>[[全外显子组测序|WES (罕见病溯源)]]</strong></td></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <td style="padding: <ins class="diffchange diffchange-inline">12px 15px</ins>; color: #334155;"><strong>[[无创产前检测|NIPT (母血胎儿筛查)]]</strong> • <strong>[[伴随诊断|CDx (肿瘤靶向用药)]]</strong> • <strong>[[全外显子组测序|WES (罕见病溯源)]]</strong></td></div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </tr></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </tr></div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> <tr></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> <tr></div></td></tr>
<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <td style="width: <del class="diffchange diffchange-inline">150px</del>; background-color: #f8fafc; color: #334155; font-weight: 600; padding: <del class="diffchange diffchange-inline">8px 10px</del>; vertical-align: middle;">数据解析与衍生工程</td></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <td style="width: <ins class="diffchange diffchange-inline">25%</ins>; background-color: #f8fafc; color: #334155; font-weight: 600; padding: <ins class="diffchange diffchange-inline">12px 15px</ins>; vertical-align: middle<ins class="diffchange diffchange-inline">; border-right: 1px solid #f1f5f9</ins>;">数据解析与衍生工程</td></div></td></tr>
<tr><td class='diff-marker'>−</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> <td style="<del class="diffchange diffchange-inline">width: 150px; </del>padding: <del class="diffchange diffchange-inline">8px 10px</del>; color: #334155;"><strong>[[单细胞测序|scRNA-Seq (微观异质性)]]</strong> • <strong>[[宏基因组学|mNGS (病原微生物体)]]</strong> • <strong>[[生物信息学|算法比对与变异检出]]</strong></td></div></td><td class='diff-marker'>+</td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div> <td style="padding: <ins class="diffchange diffchange-inline">12px 15px</ins>; color: #334155;"><strong>[[单细胞测序|scRNA-Seq (微观异质性)]]</strong> • <strong>[[宏基因组学|mNGS (病原微生物体)]]</strong> • <strong>[[生物信息学|算法比对与变异检出]]</strong></td></div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </tr></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </tr></div></td></tr>
<tr><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </table></div></td><td class='diff-marker'> </td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div> </table></div></td></tr>
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183.241.161.14
https://www.yiliao.com/index.php?title=%E5%9F%BA%E5%9B%A0%E6%B5%8B%E5%BA%8F&diff=317229&oldid=prev
183.241.161.14：建立内容为“<div style="padding: 0 4%; line-height: 1.8; color: #1e293b; font-family: 'Helvetica Neue', Helvetica, 'PingFang SC', Arial, sans-serif; background-color: #ffffff…”的新页面
2026-03-10T04:10:57Z
<p>建立内容为“<div style="padding: 0 4%; line-height: 1.8; color: #1e293b; font-family: 'Helvetica Neue', Helvetica, 'PingFang SC', Arial, sans-serif; background-color: #ffffff…”的新页面</p>
<p><b>新页面</b></p><div><div style="padding: 0 4%; line-height: 1.8; color: #1e293b; font-family: 'Helvetica Neue', Helvetica, 'PingFang SC', Arial, sans-serif; background-color: #ffffff; max-width: 1200px; margin: auto;"><br />
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<strong>[[基因测序]]</strong>（DNA Sequencing）是测定 <strong>[[DNA]]</strong> 或 <strong>[[RNA]]</strong> 分子中核苷酸（腺嘌呤 A、胸腺嘧啶 T、胞嘧啶 C、鸟嘌呤 G）精确排列顺序的实验室技术。作为现代 <strong>[[分子生物学]]</strong> 和 <strong>[[基因组学]]</strong> 的绝对底层基建，基因测序技术经历了从第一代 <strong>[[桑格测序|Sanger 测序]]</strong>（低通量、高精度），到第二代 <strong>[[次世代测序|NGS 高通量测序]]</strong>（海量并行、短读长），再到第三代单分子测序（超长读长、无扩增偏倚）的颠覆性演进。2003 年完成的 <strong>[[人类基因组计划]]</strong> 耗资 30 亿美元历时 13 年才破译了一个人类基因组，而今天的 NGS 技术只需数小时、几百美元即可完成同等工作。在现代 <strong>[[临床病理学]]</strong> 与 <strong>[[精准医学]]</strong> 中，基因测序是不可或缺的“雷达”。它被广泛应用于 <strong>[[无创产前检测|NIPT]]</strong> 以筛查胎儿染色体异常，在 <strong>[[肿瘤学]]</strong> 中用于寻找诸如 <strong>[[EGFR突变]]</strong> 或 <strong>[[BRAF V600E突变]]</strong> 以指导 <strong>[[靶向治疗]]</strong>，并在极高维度上推动了 <strong>[[单细胞测序]]</strong> 与 <strong>[[宏基因组学]]</strong> 的爆发式发展。<br />
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<div style="font-size: 1.2em; font-weight: bold; letter-spacing: 1px;">DNA Sequencing</div><br />
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<div style="font-size: 0.8em; color: #64748b; margin-top: 10px; font-weight: 600;">高通量测序 (NGS) 核心工作流</div><br />
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<td style="padding: 6px 10px; border-bottom: 1px solid #e2e8f0; color: #1e40af;"><strong>核苷酸序列 (A, T, C, G)</strong></td><br />
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<th style="text-align: left; padding: 6px 10px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">第一代技术</th><br />
<td style="padding: 6px 10px; border-bottom: 1px solid #e2e8f0; color: #0f172a;"><strong>[[桑格测序]]</strong> (双脱氧链终止)</td><br />
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<th style="text-align: left; padding: 6px 10px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">第二代技术 (NGS)</th><br />
<td style="padding: 6px 10px; border-bottom: 1px solid #e2e8f0; color: #0f172a;"><strong>[[边合成边测序|SBS]]</strong> (Illumina 等)</td><br />
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<th style="text-align: left; padding: 6px 10px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">第三代技术</th><br />
<td style="padding: 6px 10px; border-bottom: 1px solid #e2e8f0; color: #0f172a;">单分子实时 / <strong>[[纳米孔测序]]</strong></td><br />
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<th style="text-align: left; padding: 6px 10px; background-color: #f1f5f9; color: #475569; border-bottom: 1px solid #e2e8f0;">临床诊断金标准</th><br />
<td style="padding: 6px 10px; border-bottom: 1px solid #e2e8f0; color: #b91c1c;"><strong>[[全外显子组测序|WES]]</strong> / 靶向基因 Panel</td><br />
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<td style="padding: 6px 10px; color: #166534;"><strong>[[生物信息学]]</strong> (Bioinformatics)</td><br />
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基因测序技术的演进是人类工程学与分子生物学结合的巅峰，其核心机制经历了三次根本性的革命：<br />
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<li style="margin-bottom: 12px;"><strong>第一代（Sanger 测序）：双脱氧链终止法。</strong> <strong>[[弗雷德里克·桑格]]</strong> 的天才设计。在 <strong>[[PCR技术|PCR]]</strong> 扩增时，掺入缺少 3'-OH 羟基的特殊双脱氧核苷酸（<strong>[[ddNTPs]]</strong>）。一旦聚合酶连上 ddNTP，DNA 链的延伸就会强行终止。通过收集各种长度不一、末端带有特定荧光标记的片段，并使用毛细管电泳按长度排序，即可像读条形码一样读出序列。其准确率极高（金标准），但通量极低。</li><br />
<li style="margin-bottom: 12px;"><strong>第二代（NGS 高通量测序）：边合成边测序 (SBS)。</strong> 以 Illumina 平台为代表。首先将长链 DNA 打碎成数千万个短片段（构建 <strong>[[文库]]</strong>），固定在流动槽（Flow cell）的玻璃芯片上进行桥式扩增，形成簇（Cluster）。随后加入带有荧光标记且被化学基团暂时封闭的游离碱基。每次聚合酶连上一个碱基，机器就拍照记录荧光颜色（判读 A/T/C/G），然后切除封闭基团继续下一个。数千万个簇同时“发光拍照”，实现了通量的指数级爆炸。</li><br />
<li style="margin-bottom: 12px;"><strong>第三代（单分子长读长测序）：跨越 PCR 偏倚。</strong> 包含 PacBio 的 SMRT 技术和 Oxford <strong>[[纳米孔测序|Nanopore (纳米孔)]]</strong> 技术。纳米孔测序直接将单根未扩增的 DNA 长链拉过具有电压的生物蛋白孔，不同碱基通过时产生的微安级电流阻滞波形不同，以此直接解码。它能够读取长达数十万碱基的序列，完美解决了 NGS 无法拼接复杂 <strong>[[串联重复序列]]</strong> 的难题。</li><br />
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<th style="padding: 10px; border: 1px solid #cbd5e1; width: 22%;">临床应用场景</th><br />
<th style="padding: 10px; border: 1px solid #cbd5e1; width: 43%;">测序策略与检测靶点</th><br />
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<td style="padding: 8px; border: 1px solid #cbd5e1; font-weight: 600;"><strong>肿瘤伴随诊断</strong><br><span style="font-size: 0.9em; color: #64748b;">(Companion Diagnostics)</span></td><br />
<td style="padding: 8px; border: 1px solid #cbd5e1; text-align: left;">通过靶向基因 Panel（如包含 500 个癌症相关基因），极高深度地测定组织活检或 <strong>[[液体活检|ctDNA]]</strong>，寻找 <strong>[[点突变]]</strong>、<strong>[[基因融合]]</strong> 或计算 <strong>[[肿瘤突变负荷|TMB]]</strong>。</td><br />
<td style="padding: 8px; border: 1px solid #cbd5e1; background-color: #f8fafc;">直接决定患者是否适合使用特定的 <strong>[[靶向治疗|靶向药]]</strong>（如奥希替尼）或免疫疗法。</td><br />
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<td style="padding: 8px; border: 1px solid #cbd5e1; font-weight: 600;"><strong>无创产前检测</strong><br><span style="font-size: 0.9em; color: #64748b;">(NIPT)</span></td><br />
<td style="padding: 8px; border: 1px solid #cbd5e1; text-align: left;">抽取孕妇外周血，对其中游离的微量胎儿 DNA (cffDNA) 进行低深度 <strong>[[全基因组测序|WGS]]</strong>。利用统计学算法分析染色体剂量的微小偏差。</td><br />
<td style="padding: 8px; border: 1px solid #cbd5e1; background-color: #eff6ff;">安全、极高精度地筛查胎儿 <strong>[[唐氏综合征]]</strong>（21-三体）等染色体非整倍体疾病。</td><br />
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<td style="padding: 8px; border: 1px solid #cbd5e1; font-weight: 600;"><strong>罕见遗传病确诊</strong><br><span style="font-size: 0.9em; color: #64748b;">(Rare Disease Diagnosis)</span></td><br />
<td style="padding: 8px; border: 1px solid #cbd5e1; text-align: left;">当临床表型复杂无法确诊时，采用家系 <strong>[[全外显子组测序|WES]]</strong>，重点比对父母与患儿的蛋白质编码区序列，寻找新生突变 (De novo mutations) 或隐性遗传致病位点。</td><br />
<td style="padding: 8px; border: 1px solid #cbd5e1; background-color: #f0fdf4;">结束患者的“诊断奥德赛”，明确病因，指导遗传咨询及潜在的 <strong>[[基因治疗]]</strong>。</td><br />
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<h3 style="margin-top: 0; color: #14532d; font-size: 1.1em;">重铸生命科学认知的高维利器</h3><br />
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<li><strong>单细胞转录组测序 (scRNA-Seq)：</strong> 传统测序是将几百万个细胞打碎混合测序（Bulk RNA-Seq），得到的是“冰沙”。而单细胞技术利用微流控芯片将单个细胞包裹在油滴中，并贴上独特的 DNA 条形码（Barcode）。这使得我们能够获得一块“水果拼盘”，极其精确地描绘出 <strong>[[肿瘤异质性|肿瘤微环境]]</strong> 中每一个免疫细胞和癌细胞的独特表达状态。</li><br />
<li style="margin-top: 10px;"><strong>临床生物信息学 (Bioinformatics Pipelines)：</strong> 测序仪产出的只是由数十亿个 A/T/C/G 组成的“天书”文件（FASTQ 格式）。必须依赖庞大的超算集群，通过对齐算法（Alignment，如 BWA）将其像拼图一样映射到人类参考基因组上，再通过变异检出算法（Variant Calling，如 GATK）剔除测序噪音，最终找出真正的 <strong>[[错义突变]]</strong>。</li><br />
<li style="margin-top: 10px;"><strong>临床宏基因组学 (mNGS)：</strong> 应对不明原因的重症感染（如罕见脑炎）。不再进行耗时的细菌培养，而是直接抽取患者的脑脊液进行无差别测序。将测出的所有序列与全球 <strong>[[病原体]]</strong> 基因组数据库比对，能在 24 小时内瞬间锁定导致感染的罕见病毒、真菌或细菌。</li><br />
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<li><strong>[[测序深度与覆盖度]] (Depth and Coverage)：</strong> 评价测序质量的核心指标。“覆盖度”指基因组有多大比例被至少测到了一次；“测序深度”指某个特定碱基被重复测序的平均次数。在寻找极低频的肿瘤突变时，往往需要极高的测序深度（如 1000X 以上），以确保利用统计学（如 <strong>[[泊松分布]]</strong>）剔除系统假阳性错误。</li><br />
<li><strong>[[全外显子组测序]] (WES)：</strong> 基因组中负责编码蛋白质的区域（外显子）仅占整体序列的 1-2%，却包含了大约 85% 的已知致病突变。WES 通过探针捕获技术，只对这些核心区域进行高深度测序，是目前临床遗传病诊断中性价比最高的主力策略。</li><br />
<li><strong>[[表观遗传测序]] (Epigenetic Sequencing)：</strong> 测序不仅能读取碱基排列，还能读取 DNA 的化学修饰。例如通过重亚硫酸盐测序（Bisulfite Sequencing），可以精确识别出基因组中发生 <strong>[[DNA甲基化|甲基化]]</strong> 的胞嘧啶位点，揭示基因在不改变序列的情况下是如何被“静音”的。</li><br />
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<span style="color: #0f172a; font-weight: bold; font-size: 1.05em; display: inline-block; margin-bottom: 15px;">学术参考文献 [Academic Review]</span><br />
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[1] <strong>Sanger, F., Nicklen, S., & Coulson, A. R. (1977).</strong> <em>DNA sequencing with chain-terminating inhibitors.</em> <strong>[[Proceedings of the National Academy of Sciences]]</strong>. 74(12), 5463-5467.<br><br />
<span style="color: #475569;">[第一代测序原典]：分子生物学史上最伟大的文献之一。Frederick Sanger 团队首次详细公布了利用特殊的双脱氧核苷酸阻断 DNA 链延伸的测序原理。这一划时代的发明使他荣获第二座诺贝尔化学奖，开启了人类阅读生命代码的纪元。</span><br />
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[2] <strong>Lander, E. S., Linton, L. M., Birren, B., ..., & International Human Genome Sequencing Consortium. (2001).</strong> <em>Initial sequencing and analysis of the human genome.</em> <strong>[[Nature]]</strong>. 409(6822), 860-921.<br><br />
<span style="color: #475569;">[大科学工程巅峰]：人类基因组计划（HGP）的旗舰成果。该论文正式公布了人类基因组的工作草图，标志着人类首次在宏观尺度上获得了自身的基因指令集。其基于第一代测序和层级鸟枪法的策略，是生命科学史上最浩大的工程丰碑。</span><br />
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[3] <strong>Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., ..., & Smith, D. R. (2008).</strong> <em>Accurate whole human genome sequencing using reversible terminator chemistry.</em> <strong>[[Nature]]</strong>. 456(7218), 53-59.<br><br />
<span style="color: #475569;">[第二代测序技术奠基]：这篇核心文献由 Illumina 团队发表，详细阐述了如今统治全球测序市场的核心底层技术——边合成边测序（SBS）和可逆终止子化学机制。该技术彻底打破了测序成本和通量的物理瓶颈，直接引爆了现代精准医疗革命。</span><br />
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[[基因测序 (DNA Sequencing)]] · 技术演进与临床转化图谱<br />
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<td style="width: 150px; background-color: #f8fafc; color: #334155; font-weight: 600; padding: 8px 10px; vertical-align: middle;">核心技术迭代世代</td><br />
<td style="padding: 8px 10px; color: #334155;"><strong>[[桑格测序|第一代 (Sanger链终止)]]</strong> • <strong>[[次世代测序|第二代 (NGS高通量)]]</strong> • <strong>[[纳米孔测序|第三代 (单分子长读长)]]</strong></td><br />
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<td style="width: 150px; background-color: #f8fafc; color: #334155; font-weight: 600; padding: 8px 10px; vertical-align: middle;">临床应用主干战线</td><br />
<td style="padding: 8px 10px; color: #334155;"><strong>[[无创产前检测|NIPT (母血胎儿筛查)]]</strong> • <strong>[[伴随诊断|CDx (肿瘤靶向用药)]]</strong> • <strong>[[全外显子组测序|WES (罕见病溯源)]]</strong></td><br />
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<td style="width: 150px; background-color: #f8fafc; color: #334155; font-weight: 600; padding: 8px 10px; vertical-align: middle;">数据解析与衍生工程</td><br />
<td style="width: 150px; padding: 8px 10px; color: #334155;"><strong>[[单细胞测序|scRNA-Seq (微观异质性)]]</strong> • <strong>[[宏基因组学|mNGS (病原微生物体)]]</strong> • <strong>[[生物信息学|算法比对与变异检出]]</strong></td><br />
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