Characterizing mobile element insertions in 5675 genomes

Yiwei Niu

doi:10.1093/nar/gkac128

Characterizing mobile element insertions in 5675 genomes

2022-02-25

19

OA

AI

DOI：10.1093/nar/gkac128

原文链接

查看原文

摘要

En 中文

Mobile element insertions (MEIs) are a major class of structural variants (SVs) and have been linked to many human genetic disorders, including hemophilia, neurofibromatosis, and various cancers. However, human MEI resources from large-scale genome sequencing are still lacking compared to those for SNPs and SVs. Here, we report a comprehensive map of 36 699 non-reference MEIs constructed from 5675 genomes, comprising 2998 Chinese samples (similar to 26.2x, NyuWa) and 2677 samples from the 1000 Genomes Project (similar to 7.4x, 1KGP). We discovered that LINE-1 insertions were highly enriched in centromere regions, implying the role of chromosome context in retroelement insertion. After functional annotation, we estimated that MEIs are responsible for about 9.3% of all protein-truncating events per genome. Finally, we built a companion database named HMEID for public use. This resource represents the latest and largest genomewide study on MEIs and will have broad utility for exploration of human MEI findings.

Keyword:

TRANSPOSABLE ELEMENTS

STRUCTURAL VARIATION

DISCOVERY

RETROTRANSPOSONS

SEQUENCE

DIVERSITY

FRAMEWORK

DATABASE

CHINESE

FORMAT

Characterizing mobile element insertions in 5675 genomes

摘要

AI总结

期刊

机构