April 2022
Beginner to intermediate
486 pages
10h 22m
Chinese
Content preview from 云端基因组学
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208
｜
第
7
章
7.2.6
用
Funcotator
工具注明识别结果的功能性预测效果
比起种系突变识别结果，体细胞突变识别结果更难过滤。因而为识别结果标注增加
注释，注明其功能性预测效果及重要性，对过滤工作帮助极大。例如，某蛋白质编
码区的一个终止密码子比内含子中的一处突变可能更重要。你拿到识别结果后，如
了解该信息，可据此找出有潜力识别结果，以投入精力深入研究。
为测量功能性影响，我们需知道基因组哪些区域编码蛋白质序列，哪些区域对应基
因表达的重要元素。像
GENCODE
这样的转录注释资源（
https://www.gencodegenes.
org
），可以捕获标准
GTF
（
Gene Transfer Format
）格式信息（
https://oreil.ly/
SDmFX
）。
GATK
团队提供一组资源（
https://oreil.ly/LDGdM
），含编译过的功能
性注释资源或数据资源，适合多种常用功能性注释需求。该团队还提供
Funcotator
工具，你可以用该工具和这些数据资源的信息注释变异识别结果。你也可以自建
数据资源。此外，尽管
Funcotator
工具默认输出
VCF
格式结果，你也可以使其
输出突变注释格式（
Mutation Annotation Format
，
MAF
），癌症基因组社区大量
使用该格式。这两种输出格式更多内容，请见
Funcotator
工具文档（
https://oreil.
ly/6qw0X
）。
上文，我们用
Mutect2
工具得到变异识别结果集并过滤它。我们就用
Funcotator
工
具处理该数据集： ...
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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.