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新一代测序技术和基因组数据分析:视网膜研究前景

Chaitankar V, Karakülah G, Ratnapriya R, et al.

期刊名称:Progress in Retinal and Eye Research

卷期:2016年第55卷

摘要

新一代高通量测序(NGS)的出现加快了发现疾病相关遗传变异和基因组分析表达序列和表观遗传标记的步伐,从而可对眼部发育和疾病进行系统分析。 NGS和相关方法的快速发展对大型数据集的采集,管理和分析提出了重大挑战,可用于提取生物或临床相关信息。在这里我们说明了常用的基于NGS方法特别是整个外显子组测序,转录组和表观基因组分析的基本设计,并提供数据分析建议。我们简要讨论了整合了多个数据集的系统生物学方法,以阐明基因调控或疾病网络。虽然我们提供了视网膜的例子,但NGS指南也适用于其他组织/细胞类型。

The advent of high throughput next generation sequencing (NGS) has accelerated the pace of discovery of disease-associated genetic variants and genomewide profiling of expressed sequences and epigenetic marks, thereby permitting systems-based analyses of ocular development and disease. Rapid evolution of NGS and associated methodologies presents significant challenges in acquisition, management, and analysis of large data sets and for extracting biologically or clinically relevant information. Here we illustrate the basic design of commonly used NGS-based methods, specifically whole exome sequencing, transcriptome, and epigenome profiling, and provide recommendations for data analyses. We briefly discuss systems biology approaches for integrating multiple data sets to elucidate gene regulatory or disease networks. While we provide examples from the retina, the NGS guidelines reviewed here are applicable to other tissues/cell types as well.


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