Characterizing mobile element insertions in 5675 genomes Article Swipe
Yiwei Niu
,
Xueyi Teng
,
Honghong Zhou
,
Yirong Shi
,
Yanyan Li
,
Yiheng Tang
,
Peng Zhang
,
Huaxia Luo
,
Quan Kang
,
Tao Xu
,
Shunmin He
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1093/nar/gkac128
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1093/nar/gkac128
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.
Related Topics
Concepts
Biology
Human genome
Genome
Genetics
Annotation
Computational biology
Context (archaeology)
1000 Genomes Project
Reference genome
Chromosome
Mobile genetic elements
Centromere
Single-nucleotide polymorphism
Gene
Genotype
Paleontology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/nar/gkac128
- https://academic.oup.com/nar/article-pdf/50/5/2493/42921223/gkac128.pdf
- OA Status
- gold
- Cited By
- 36
- References
- 103
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4211115630
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4211115630Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1093/nar/gkac128Digital Object Identifier
- Title
-
Characterizing mobile element insertions in 5675 genomesWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2022Year of publication
- Publication date
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2022-02-11Full publication date if available
- Authors
-
Yiwei Niu, Xueyi Teng, Honghong Zhou, Yirong Shi, Yanyan Li, Yiheng Tang, Peng Zhang, Huaxia Luo, Quan Kang, Tao Xu, Shunmin HeList of authors in order
- Landing page
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https://doi.org/10.1093/nar/gkac128Publisher landing page
- PDF URL
-
https://academic.oup.com/nar/article-pdf/50/5/2493/42921223/gkac128.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://academic.oup.com/nar/article-pdf/50/5/2493/42921223/gkac128.pdfDirect OA link when available
- Concepts
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Biology, Human genome, Genome, Genetics, Annotation, Computational biology, Context (archaeology), 1000 Genomes Project, Reference genome, Chromosome, Mobile genetic elements, Centromere, Single-nucleotide polymorphism, Gene, Genotype, PaleontologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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36Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 12, 2024: 8, 2023: 11, 2022: 5Per-year citation counts (last 5 years)
- References (count)
-
103Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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