International Rice Research Institute, Laguna 4031, Philippines.
Bioinformatics Group, Wageningen University and Research, 6708 PB Wageningen, the Netherlands.
Genome Res. 2019 May;29(5):870-880. doi: 10.1101/gr.241240.118. Epub 2019 Apr 16.
Investigation of large structural variants (SVs) is a challenging yet important task in understanding trait differences in highly repetitive genomes. Combining different bioinformatic approaches for SV detection, we analyzed whole-genome sequencing data from 3000 rice genomes and identified 63 million individual SV calls that grouped into 1.5 million allelic variants. We found enrichment of long SVs in promoters and an excess of shorter variants in 5' UTRs. Across the rice genomes, we identified regions of high SV frequency enriched in stress response genes. We demonstrated how SVs may help in finding causative variants in genome-wide association analysis. These new insights into rice genome biology are valuable for understanding the effects SVs have on gene function, with the prospect of identifying novel agronomically important alleles that can be utilized to improve cultivated rice.
研究大型结构变异(SVs)是理解高度重复基因组中性状差异的一项具有挑战性但又很重要的任务。我们结合了不同的生物信息学方法来进行 SV 检测,分析了来自 3000 个水稻基因组的全基因组测序数据,鉴定出 6300 万个个体 SV 调用,这些 SV 调用可归类为 150 万个等位变体。我们发现长 SVs 在启动子中富集,而较短的变体在 5'UTR 中过剩。在整个水稻基因组中,我们鉴定到了富含应激反应基因的高 SV 频率区域。我们展示了 SVs 如何有助于在全基因组关联分析中找到致病变体。这些对水稻基因组生物学的新见解对于理解 SVs 对基因功能的影响是有价值的,有望鉴定出具有农业重要性的新等位基因,可用于改良栽培稻。