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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
撰写可完全复现的论文
437
料。然而,该项工作第一次将针对法洛四联症的变异分析扩展到近一千个
case
样本,
并且表明
NOTCH1
是该病的一个重要致病因素。写作本书时,据我们所知,它仍是
针对非综合征型法洛四联症的最大外显子组研究项目。
我们曾为举办基因组分析工作坊而联系过
Miossec
博士。当时,我们正在为拉丁
美洲几个团体联合举办的
ISCB-LA SOIBIO EMBnet
会议策划工作坊。该会议定于
2018
11
月在智利召开。
Miossec
博士等人的论文仍处于预印阶段。与此同时,我
们的团队也答应为
ASHG 2018
工作坊开发计算过程可复现的案例研究。本书前面曾
提过,该工作坊安排在
2018
10
月。我们意外发现
Miossec
博士的论文预印本非
常适合这两个工作坊,因为它刚好与我们的目标受众相关:①为变异发现和相关方
法提供经典应用场景;②受试群体的数量足够大,需解决规模扩大引发的可扩展性
难题,同时这个量又在大多数研究机构的能力范围之内;③采用当时最常用的外显
子组测序数据。鉴于该研究本身符合“金发女孩原则”,即各方面恰到好处适合改
编成工作坊教程。而且在我们最初讨论为
ISCB-LA SOIBIO EMBnet
会议准备什么
样的工作坊开发项目时,
Miossec
博士表现出积极合作的态度。因此,我们跟他接
洽将其论文预印本作为两个工作坊的一个案例研究蓝图这一想法,他欣然同意。随
后我们一起并肩工作数月,开发该案例研究项目,并最终分别在
ASHG 2018
会议和
ISCB-LA SOIBIO EMBnet ...
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Publisher Resources

ISBN: 9787519864422