ArticleNucleic acids research2022
Characterizing mobile element insertions in 5675 genomes.
Article in Nucleic acids research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 38 citations in OpenAlex.
- The Role of Germline Transposable Element Insertions in Pediatric Cancer Predisposition.Cancer research communications · 2026Article
- VN1K is a pangenome-informed multi-omics and phenomics resource for the Vietnamese population.Nature communications · 2026Article
- Quantitative Control of Transposable Elements: From Genome Plasticity to Immune Regulatory Circuits.Cell biochemistry and function · 2026Review
- Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposons.bioRxiv : the preprint server for biology · 2026Article
- The landscape of human transposable element insertions in Chinese population.Cell discovery · 2026Article
- Genetic diversity and differentiated adaptive strategies for underrepresented populations at the crossroad of Southeast and East Asia.BMC genomics · 2026Article
- Database resources of the National Genomics Data Center, China National Center for Bioinformation in 2026.Nucleic acids research · 2026Article
- Jumping in the human brain: A review on somatic transposition.Fundamental research · 2026Review
- insilicoSV: a flexible grammar-based framework for structural variant simulation and placement.Bioinformatics (Oxford, England) · 2025Article
- Long-read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
- Multi-platform framework for mapping somatic retrotransposition in human tissues.bioRxiv : the preprint server for biology · 2025Article
- Article
- Pan-cancer multi-omic model of LINE-1 activity reveals locus heterogeneity of retrotransposition efficiency.Nature communications · 2025Article
- Retropseudogene insertion generated through retrotransposition in theFrontiers in neurology · 2025Article
- Genome-wide investigation of VNTR motif polymorphisms in 8,222 genomes: Implications for biological regulation and human traits.Cell genomics · 2024Article
- A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.Nature communications · 2024Article
- Article
- Population genetic analysis based on the polymorphisms mediated by transposons in the genomes of pig.DNA research : an international journal for rapid publication of reports on genes and genomes · 2024Article
- Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.European journal of human genetics : EJHG · 2024Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 (∼26.2×, NyuWa) and 2677 samples from the 1000 Genomes Project (∼7.4×, 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.