April 2022
Beginner to intermediate
486 pages
10h 22m
Chinese
Content preview from 云端基因组学
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用
GATK
最佳实践发现体细胞变异
｜
221
看到任意杂合性
SNV
表达为两个不同等位基因，但其比例相同。假如我们有一处
A/T
变异；我们可以看到序列读段含大约
50%
的
A
和
50%
的
T
（技术上可能有些
出入）。我们在工作流第一步统计读段时，可检测到这些位点。紧接着，我们将这
些位点作为标记；如我们查看肿瘤样本这些位点，就会发现其等位基因率明显偏斜，
这一发现将给予有关
CNA
程度（
degree of CNA
）的额外信息，而该
CNA
程度影响
到位点作为其中一部分的那些片段。
如有兴趣探讨这一额外分析模式，请参考
GATK
网站体细胞拷贝数文档（
https://
oreil.ly/NXTuz
）。
7.4
小结和下一步学习内容
我们学习种系工作流和体细胞分析工作流过程，已运行大量基因组分析命令。那么，
这是否意味着我们已做好分析全基因组的准备？
时机还不成熟，现在虽你已能运行单条命令（这些命令在你工作的各个阶段非常有
用，尤其是在最初的测试、评估和解决故障阶段），但是你已知变异发现最佳实
践由多种任务组成，需用多种工具。相信我们，你肯定不想手动运行每个任务去
处理每个样本或每组样本。你想要的是将这些任务连接成脚本，自动处理大量工
作，从而减少单调乏味工作，降低人工处理犯错机会。因此我们在第
8
章将介绍
如何用
WDL
编写工作流脚本，自动调用全部分析流水线的每一步。然后，我们用
Cromwell
工作流管理系统运行它们。该系统兼容笔记本电脑、集群或云平台。
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O’Reilly covers everything we've got, with content to help us build a world-class technology community, upgrade the capabilities and competencies of our teams, and improve overall team performance as well as their engagement.Julian F.
I wanted to learn C and C++, but it didn't click for me until I picked up an O'Reilly book. When I went on the O’Reilly platform, I was astonished to find all the books there, plus live events and sandboxes so you could play around with the technology.Addison B.
I’ve been on the O’Reilly platform for more than eight years. I use a couple of learning platforms, but I'm on O'Reilly more than anybody else. When you're there, you start learning. I'm never disappointed.Amir M.
I'm always learning. So when I got on to O'Reilly, I was like a kid in a candy store. There are playlists. There are answers. There's on-demand training. It's worth its weight in gold, in terms of what it allows me to do.