Designs for massively parallel sequencing approaches to identify causal mutations in human immune disorders.
Designs for massively parallel sequencing approaches to identify causal mutations in human immune disorders.
复制标题
设计大规模并行测序方法来识别人类免疫疾病的因果突变。
DOI：
10.1007/978-1-62703-290-2_14
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Su,HelenC
中科院分区：
文献类型：
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作者：
Zhang,Yu;Su,HelenC
大规模平行测序技术为发现致病变异和缩小人类孟德尔疾病的候选基因提供了新的机会。这些信息反过来可以为理解这些疾病背后的基础科学以及改善这些疾病的诊断和治疗提供新的见解。在这一章中，我们回顾了人类免疫疾病测序研究的实验设计和数据分析。我们讨论了样本选择和测序方法的最佳实验设计，以及数据分析的关键方面，如筛选和确定变异的优先级。
Massively parallel sequencing technologies provide new opportunities to discover causal variants and narrow down candidate genes responsible for human Mendelian disorders. Such information can in turn provide new insights into understanding the basic science behind, as well as improving diagnosis and treatment for, these disorders. In this chapter, we review experimental design and data analysis for sequencing studies of human immune disorders. We discuss optimal experimental designs for sample selection and sequencing approaches, as well as key aspects of data analysis such as filtering and prioritization of identified variants.