April 2022
Beginner to intermediate
486 pages
10h 22m
Chinese
Content preview from 云端基因组学
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456
｜
第
14
章
我们为每个受试增加一个家谱（
pedigree
）文件，指定它是否应该被认作
case
样本
或
control
样本。对于任一给定受试集，我们选择一半受试作为
control
样本，它们
均含中性突变。我们接着将集合剩余受试，包括那些含
NOTCH1
突变的，归到
case
样本。
最后，
Miossec
博士帮我们将原先用于聚类分析的
Perl
脚本，用
R
语言在
Jupyter
笔
记本重写一遍，你也可以从工作区找到该笔记本。笔记本被设置为读取
GEMINI
所
生成的输出文件。它接着运行一系列分析步骤，最终运行聚类测试，寻找
case
样本
中数量超常的罕见、有害变异。分析过程的每一步都加有注释，因此如要了解该分
析的更多内容，一定要查看该笔记本。
不论是工作流，还是笔记本，我们都小心翼翼，原封不动复现原分析，因为我们认
为这两部分对最终结果影响最大。
14.3.3
新实现的分析能力
我们最想知道的是它能实现其目的吗？我们能否从数据堆找到
NOTCH1
吗？简单回
答，是的，大部分情况下可以；如展开讲，答案更有趣。
如前所述，当时我们最终只能生成
500
个合成外显子组，因此我们定义一个含
100
个受试的集合，其中有
8
个
NOTCH1
case
，又定义一个含
500
个受试的集合，其中
有
49
个
NOTCH1
case
。尽管这些
NOTCH1
case
的比例比原数据集高，但这样做我
们两个受试集的
NOTCH1
case
比例大体一致，这点对我们很重要。因为我们无法像
原先设想的那样在全规模数据集上测试该方法，所以我们至少能够评估实验结果是
如何相对数据集的大小做出成比例的改变，我们很早之前就想了解这一点。 ...
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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.