April 2022
Beginner to intermediate
486 pages
10h 22m
Chinese
Content preview from 云端基因组学
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452
｜
第
14
章
看几个
BAM
输出文件，经验证它们确实引入目标变异。该工作流按预期运行数据，
对此我们感到很满意。
14.2.5
生成最终数据集
我们成功驾驭现有数据和工具，将其融入之前所讲工作流，现在我们可生成合成数
据集，充分替代原法洛四联症群体数据集。然而，我们还需再让步一次，我们原计
划模拟原群体的外显子组，创建
2081
个合成外显子组，现在将该数降到
500
。这么
做的原因是什么？你可能责怪我们的原因太直白：大会开始前，我们没有时间了。
有时，你只能拿手头上有的往前冲。
因此，我们生成
500
个含变异的合成外显子组。我们在工作区进一步将其分成
两个受试组
A100
和
B500
。
A100
集合是一个由
100
个受试组成的子集，含
8
个
NOTCH1
case
。
B500
集合是所有我们为其创建合成外显子组的受试的超集，包含论
文所报告的全部
49
个
NOTCH1
case
。你也许注意到这种构成不太匹配总法洛四联
症群体中
NOTCH1
case
的比例，但是这两个集合之间具有相似的比例。稍后，我们
讨论这会对最终结果产生什么影响。
至此，我们已准备好学习下一节，届时我们将尝试复现论文的研究方法。
14.3
重建数据处理和分析方法论
即使你已忘记论文作者所研究的一切，我们也不会责备你，因为已经过去好久了。
我们快速回顾一下论文内容。如图
14-8
所示，
Miossec
博士等人拿到一个受试群体（含
2081
个受试）的外显子组测序数据。他们近乎均匀地将其分成两部分；
case
组为患
有法洛四联症先天性心脏病的病人（非综合征型）和
control ...
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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.