ArticleGenome research2013
Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations.
Article in Genome research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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42 citing papers in PubMed, 65 citations in OpenAlex.
- Active Human Transposable Elements: Long-Read Sequencing Technologies, Computational Analysis, and Implications for Human Disease.Biomolecules · 2026Review
- Repetitive DNA sequence detection and its role in the human genome.Communications biology · 2023Review
- SINE Insertion in the Pig Carbonic Anhydrase 5BAnimals : an open access journal from MDPI · 2023Article
- A Map of 3' DNA Transduction Variants Mediated by Non-LTR Retroelements on 3202 Human Genomes.Biology · 2022Article
- Mobile element insertions and associated structural variants in longitudinal breast cancer samples.Scientific reports · 2021Article
- Genetic Diversity and Population Structures in Chinese Miniature Pigs Revealed by SINE Retrotransposon Insertion Polymorphisms, a New Type of Genetic Markers.Animals : an open access journal from MDPI · 2021Article
- Polymorphic mobile element insertions contribute to gene expression and alternative splicing in human tissues.Genome biology · 2020Article
- Insertion of Telomeric Repeats in the Human and Horse Genomes: An Evolutionary Perspective.International journal of molecular sciences · 2020Article
- Contribution of unfixed transposable element insertions to human regulatory variation.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
- Integrated Mobile Element Scanning (ME-Scan) method for identifying multiple types of polymorphic mobile element insertions.Mobile DNA · 2020Article
- Contribution of retrotransposition to developmental disorders.Nature communications · 2019Article
- Identification of an active miniature inverted-repeat transposable element mJing in rice.The Plant journal : for cell and molecular biology · 2019Article
- Dynamic Methylation of an L1 Transduction Family during Reprogramming and Neurodifferentiation.Molecular and cellular biology · 2019Article
- AluMine: alignment-free method for the discovery of polymorphic Alu element insertions.Mobile DNA · 2019Article
- Transposon insertion profiling by sequencing (TIPseq) for mapping LINE-1 insertions in the human genome.Mobile DNA · 2019Article
- Mobile elements contribute to the uniqueness of human genome with 15,000 human-specific insertions and 14 Mbp sequence increase.DNA research : an international journal for rapid publication of reports on genes and genomes · 2018Article
- A high throughput screen for active human transposable elements.BMC genomics · 2018Article
- Identification of mutations inHuman genome variation · 2018Article
- Article
- Coevolution between transposable elements and recombination.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
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7 authors at 3 institutions in 2 countries.
Funding
Abstract
Alu retrotransposons are the most numerous and active mobile elements in humans, causing genetic disease and creating genomic diversity. Mobile element scanning (ME-Scan) enables comprehensive and affordable identification of mobile element insertions (MEI) using targeted high-throughput sequencing of multiplexed MEI junction libraries. In a single experiment, ME-Scan identifies nearly all AluYb8 and AluYb9 elements, with high sensitivity for both rare and common insertions, in 169 individuals of diverse ancestry. ME-Scan detects heterozygous insertions in single individuals with 91% sensitivity. Insertion presence or absence states determined by ME-Scan are 95% concordant with those determined by locus-specific PCR assays. By sampling diverse populations from Africa, South Asia, and Europe, we are able to identify 5799 Alu insertions, including 2524 novel ones, some of which occur in exons. Sub-Saharan populations and a Pygmy group in particular carry numerous intermediate-frequency Alu insertions that are absent in non-African groups. There is a significant dearth of exon-interrupting insertions among common Alu polymorphisms, but the density of singleton Alu insertions is constant across exonic and nonexonic regions. In one case, a validated novel singleton Alu interrupts a protein-coding exon of FAM187B. This implies that exonic Alu insertions are generally deleterious and thus eliminated by natural selection, but not so quickly that they cannot be observed as extremely rare variants.
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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.