当前位置: X-MOL 学术Genomics › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Characterization of full-length LINE-1 insertions in 154 genomes
Genomics ( IF 4.4 ) Pub Date : 2021-09-15 , DOI: 10.1016/j.ygeno.2021.09.011
Jessica S Wong 1 , Tanaya Jadhav 1 , Eleanor Young 1 , Yilin Wang 1 , Ming Xiao 2
Affiliation  

Long interspersed nuclear elements (LINEs) are retrotransposons that contribute to genetic variation in the human genome. LINE-1 elements in larger-scale studies are challenging to identify using sequencing technologies due to cost and scalability. We developed an approach using optical mapping for detection of full-length LINE-1 insertions and 10× sequencing for confirmation. We found 51 true positive full-length LINE-1 insertions, of which 4 are novel insertions, in NA12878. Repeating our analysis on a larger sample set representing 26 populations, we identified 329 full-length LINE-1 elements, of which 123 are novel. 24.8% of these 329 LINE-1 insertions were shared amongst all 5 superpopulations (AFR, AMR, EUR, EAS, SAS). The African superpopulation has a higher percentage of population-specific LINE-1 insertions than any other superpopulation. These data indicate that our approach can provide high-speed, cost-effective, and increased accuracy for LINE-1 detection. These data also provide an insight into variations of LINE-1 elements between different populations.

更新日期:2021-09-19
down
wechat
bug