Products & Services
Applications

Applications

Nanopore sequencing offers advantages in all areas of research. Our offering includes DNA sequencing, as well as RNA and gene expression analysis and future technology for analysing proteins.

Learn about applications
View all Applications
Resources
News Explore
Contact
Back

Structural variants in Chinese population and their impact on phenotypes, diseases and population adaptation

Publication

Date: 10th February 2021 | Source: BioRxiv

Authors: Zhikun Wu, Zehang Jiang, Tong Li, Chuanbo Xie, Liansheng Zhao, Jiaqi Yang, Shuai Ouyang, Yizhi Liu, Tao Li, Zhi Xie.

A complete characterization of genetic variation is a fundamental goal of human genome research. Long-read sequencing (LRS) improves the sensitivity for structural variant (SV) discovery and facilitates a better understanding of the SV spectrum in human genomes. Here, we conduct the first LRS-based SV analysis in Chinese  population. We perform whole-genome LRS for 405 unrelated Chinese, with 68 phenotypic and clinical measurements. We discover a complex landscape of 132,312 non-redundant SVs, of which 53.3% are novel.

The identified SVs are of high-quality validated by the PacBio high-fidelity sequencing and PCR experiments. The total length of SVs represents approximately 13.2% of the human reference genome. We annotate 1,929 loss-of-function SVs affecting the coding sequences of 1,681 genes. We discover new associations of SVs with phenotypes and diseases, such as rare deletions in HBA1/HBA2/HBB associated with anemia and common deletions in GHR associated with body height. Furthermore, we identify SV candidates related to human immunity that differentiate sub-populations of Chinese.

Our study reveals the complex landscape of human SVs in unprecedented detail and provides new insights into their roles contributing to phenotypes, diseases and evolution. The genotypic and phenotypic resource is freely available to the scientific community.

Read the full text

Recommended for you

Open a chat to talk to our sales team
FAQs

FAQs

Search