ArticleGenome research2011
Alu repeat discovery and characterization within human genomes.
Article in Genome research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed.
- Direct identification ofbioRxiv : the preprint server for biology · 2025Article
- Comprehensive fragmentation of cell-free repetitive DNA for enhanced cancer detection in plasma.Frontiers in cell and developmental biology · 2025Article
- Downregulation of transposable elements extends lifespan in Caenorhabditis elegans.Nature communications · 2023Article
- Transposable Elements in Pluripotent Stem Cells and Human Disease.Frontiers in genetics · 2022Review
- Human transposon insertion profiling by sequencing (TIPseq) to map LINE-1 insertions in single cells.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
- Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data.BMC bioinformatics · 2019Article
- Discovery of tandem and interspersed segmental duplications using high-throughput sequencing.Bioinformatics (Oxford, England) · 2019Article
- Pedigree-based estimation of human mobile element retrotransposition rates.Genome research · 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
- Evidence for DNA Sequence Encoding of an Accessible Nucleosomal Array across Vertebrates.Biophysical journal · 2018Article
- Article
- Is mitochondrial DNA quantitation in blastocyst trophectoderm cells predictive of developmental competence and outcome in clinical IVF?Journal of assisted reproduction and genetics · 2017Review
- The Piwi-piRNA pathway: road to immortality.Aging cell · 2017Article
- Population-wide sampling of retrotransposon insertion polymorphisms using deep sequencing and efficient detection.GigaScience · 2017Article
- Frequency of Alu insertions within the ACE and PR loci in Northwestern Mexicans.BMC research notes · 2017Article
- Transposable elements in cancer.Nature reviews. Cancer · 2017Review
- Structural variants caused byProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Age-Associated ALU Element Instability in White Blood Cells Is Linked to Lower Survival in Elderly Adults: A Preliminary Cohort Study.PloS one · 2017Article
- Discovery of rare, diagnosticMobile DNA · 2017Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors.
Funding
Abstract
Human genomes are now being rapidly sequenced, but not all forms of genetic variation are routinely characterized. In this study, we focus on Alu retrotransposition events and seek to characterize differences in the pattern of mobile insertion between individuals based on the analysis of eight human genomes sequenced using next-generation sequencing. Applying a rapid read-pair analysis algorithm, we discover 4342 Alu insertions not found in the human reference genome and show that 98% of a selected subset (63/64) experimentally validate. Of these new insertions, 89% correspond to AluY elements, suggesting that they arose by retrotransposition. Eighty percent of the Alu insertions have not been previously reported and more novel events were detected in Africans when compared with non-African samples (76% vs. 69%). Using these data, we develop an experimental and computational screen to identify ancestry informative Alu retrotransposition events among different human populations.
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Registered trials
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