April 2022
Beginner to intermediate
486 pages
10h 22m
Chinese
Content preview from 云端基因组学
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198
｜
第
7
章
不过一些混淆因素搅乱这种美好想法。例如，用福尔马林固定石蜡包埋（
formalin-
fixed paraffin-embedded
，
FFPE
）的活检样本，在样本准备过程易受生化变化影响，
以至于针对特定肿瘤样本，产生假正变异识别结果模式。顺便一提，
FFPE
是实验
室处理样本的常用技术。反之，正常组织的肿瘤细胞（由于采样污染或癌细胞扩散）
可能导致工具将真体细胞变异误识别为个体种系变异一部分。最后如前面所讨论的，
各种技术错误和污染，对所有高通量测序技术都会造成一定影响的，对体细胞变异
识别也有较大影响。因此，我们需采用一些健壮的处理和过滤技术来解决这些难题
（完整工作流见图
7-3
）。
下一小节，我们将深入肿瘤—正常组织配对分析工作流细节。在此之前，你需要注
意有时我们无法应用完整的肿瘤—正常组织配对分析工作流来处理单个样本或一组
样本，这通常是因为我们拿不到与肿瘤配对的正常组织。如缺少数据是因为研究员
无法从受试者或病人采集配对组织，那么挫败感尤为强烈。因此确保在研究员采集
数据之前，详细规划好整个分析过程尤为重要。另外，有时出于生物学上的原因，
我们无法取得配对组织，例如血液性癌症通常会触及身体每处组织，我们无法假定
任何组织样本都是正常组织。
不管出于什么原因而缺少配对正常组织，下一小节要讲的工作流都可以在只有少
数微小改动的肿瘤样本上运行，其详细内容请见
GATK
在线文档（
https://oreil.ly/
ZgIrB
）。然而，你应该清楚分析结果可能含较多噪音，因为你将依靠种系群体资源
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