Ross Jay P, Dion Patrick A, Rouleau Guy A
Department of Human Genetics, McGill University, 3640 University, Montréal, QC, H3A 0C7, Canada.
Montreal Neurological Institute and Hospital, McGill University, 3801 University, Montréal, QC, H3A 2B4, Canada.
F1000Res. 2020 May 6;9. doi: 10.12688/f1000research.19444.1. eCollection 2020.
Over the past decade, exome sequencing (ES) has allowed significant advancements to the field of disease research. By targeting the protein-coding regions of the genome, ES combines the depth of knowledge on protein-altering variants with high-throughput data generation and ease of analysis. New discoveries continue to be made using ES, and medical science has benefitted both theoretically and clinically from its continued use. In this review, we describe recent advances and successes of ES in disease research. Through selected examples of recent publications, we explore how ES continues to be a valuable tool to find variants that might explain disease etiology or provide insight into the biology underlying the disease. We then discuss shortcomings of ES in terms of variant discoveries made by other sequencing technologies that would be missed because of the scope and techniques of ES. We conclude with a brief outlook on the future of ES, suggesting that although newer and more thorough sequencing methods will soon supplant ES, its results will continue to be useful for disease research.
在过去十年中，外显子组测序（ES）推动了疾病研究领域的重大进展。通过靶向基因组的蛋白质编码区域，外显子组测序将对蛋白质改变变体的深入了解与高通量数据生成及易于分析相结合。利用外显子组测序不断有新的发现，医学科学在理论和临床方面都因持续使用它而受益。在本综述中，我们描述了外显子组测序在疾病研究中的最新进展和成果。通过近期出版物的精选实例，我们探讨了外显子组测序如何继续成为寻找可能解释疾病病因或深入了解疾病背后生物学机制的变体的宝贵工具。然后，我们讨论了外显子组测序在变体发现方面的不足，因为外显子组测序的范围和技术，其他测序技术所发现的变体可能会被遗漏。我们最后对外显子组测序的未来作了简要展望，表明尽管更新、更全面的测序方法很快将取代外显子组测序，但其结果仍将对疾病研究有用。
