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云端基因组学
book

云端基因组学

by Geraldine A. Van der Auwera, Brian D. O’Connor
April 2022
Beginner to intermediate
486 pages
10h 22m
Chinese
China Electric Power Press Ltd.
Content preview from 云端基因组学
344
11
另一方面,
participant
(受试)表你可能没见过。它列出所有受试,尽管该例只有一
个人。如仔细看
sample
表,你也许已注意到其中一列为
participant
,这是一个标识词,
它指向受试表的一个条目(受试表中的
participant_id
)。受试表的目的是为数据提
供一种更高层级的组织方式,如有多位受试,其作用就会显现,并且每位受试可有
多个与之相关联的样本,每个样本对应不同数据类型、不同测定结果,或两者均可能。
完成这步之后,你就可以用数据表系统去做一些事情,比如在一组受试的所有样本
上运行一个工作流。
再举一例,
Mutect2
体细胞分析流水线(详见第
7
章)期望接受每位病人的一个肿
瘤样本和与之匹配的正常样本(其正式名称为样本对)。你若查看对应的
GATK
佳实践工作区(写作本书时为这一个:
https://oreil.ly/a8ksp
),将看到它用四个数
据表组织数据,将数据划分为受试、样本、样本对和样本集合(
PoN
使用的正常样本,
详见第
7
章)。该工作区的数据表遵从
TCGA
癌症研究计划“
The Cancer Genome
Atlas
”(癌症基因组图谱)所定义的数据模式。
更一般地讲,你可以用任意数量的数据表组织数据,并用一种结构化数据模式描述
受试、样本和其他数据实体之间的关系。第
13
章,我们将讨论在
Terra
中构建数据
模式的几种方法及其用法。这些方法使用得当,既省钱又省功夫。
11.3.3
选数据并配置全规模工作流
如前所述,你既可以直接到工作区的工作流页面,也可从“
Data ...
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Publisher Resources

ISBN: 9787519864422