Genome-wide investigation of VNTR motif polymorphisms in 8,222 genomes: Implications for biological regulation and human traits
Sijia Zhang, Qiao Song, Peng Zhang, Xiaona Wang, Rong Guo, Yanyan Li, Shuai Liu, Xiaoyu Yan, Jingjing Zhang, Yiwei Niu, Yirong Shi, Tingrui Song, Tao Xu, Shunmin He · 2024
Read Genome-wide investigation of VNTR motif polymorphisms in 8,222 genomes: Implications for biological regulation and human traits by Sijia Zhang, Qiao Song, Peng Zhang, Xiaona Wang, Rong Guo, Yanyan Li, Shuai Liu, Xiaoyu Yan, Jingjing Zhang, Yiwei Niu, Yirong Shi, Tingrui Song, Tao Xu, Shunmin He (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11701250.txt.
Description
Tandem repeats are stretches of DNA where a short pattern repeats head to tail, and the pattern itself can vary between people. Sijia Zhang and co-authors built the largest map yet of those motif changes in 2024, scanning 8,222 genomes. They found over two and a half million length changes and over eleven million motif changes in these repeat regions, most of the specific ones being rare.
Nearly two thousand repeat sites linked, through their motif changes, to how active nearby genes are. In one case, an expanded motif raised gene activity by improving a regulator's grip. The team also explored links to traits and disease risk. The map opens a neglected layer of human genetic variation.
Catalog record
| CREATOR | Sijia Zhang, Qiao Song, Peng Zhang, Xiaona Wang, Rong Guo, Yanyan Li, Shuai Liu, Xiaoyu Yan, Jingjing Zhang, Yiwei Niu, Yirong Shi, Tingrui Song, Tao Xu, Shunmin He |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 80 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |