ArticleInternational journal of molecular sciences2023
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.
Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- A global map for introgressed structural variation and selection in humans.Science (New York, N.Y.) · 2026Article
- Imputation disparities driven by recent selection and their impact on disease risk estimation in East and Southeast Asian populations.Communications biology · 2025Article
- SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies.Bioinformatics (Oxford, England) · 2025Article
- Complete sequencing of ape genomes.Nature · 2025Article
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- Structural polymorphism and diversity of human segmental duplications.Nature genetics · 2025Article
- Complete sequencing of ape genomes.bioRxiv : the preprint server for biology · 2024Article
- Structural polymorphism and diversity of human segmental duplications.bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. The 15q11-q13 locus is a hotspot of recurrent copy number variation associated with Prader-Willi/Angelman syndromes, developmental delay, autism, and epilepsy and is mediated by complex segmental duplications, many of which arose recently during evolution. To gain insight into the instability of this region, we characterized its architecture in human and nonhuman primates, reconstructing the evolutionary history of five different inversions that rearranged the region in different species primarily by accumulation of segmental duplications. Comparative analysis of human and nonhuman primate duplication structures suggests a human-specific gain of directly oriented duplications in the regions flanking the
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Registered trials
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