ArticleNature communications2015
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 68 papers.
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Who cites it
68 citing papers in PubMed, 101 citations in OpenAlex.
- Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.Molecular psychiatry · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Osteogenesis Imperfecta with a gross deletion including theBone reports · 2026Article
- The biomedical landscape of genomic structural variation in the qatari population.Nature communications · 2026Article
- DNA shape and epigenomics distinguish the mechanistic origin of human genomic structural variations.Nucleic acids research · 2025Article
- Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.Journal of translational medicine · 2025Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Multisite long-read sequencing reveals the early contributions of somatic structural variations to HBV-related hepatocellular carcinoma tumorigenesis.Genome research · 2025Article
- Performance evaluation of structural variation detection using DNBSEQ whole-genome sequencing.BMC genomics · 2025Article
- Structural variants linked to Alzheimer's disease and other common age-related clinical and neuropathologic traits.Genome medicine · 2025Article
- Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants.Journal of the American Heart Association · 2025Article
- Genome and transcriptomic analysis of the adaptation ofComputational and structural biotechnology journal · 2024Review
- Towards the genomic sequence code of DNA fragility for machine learning.Nucleic acids research · 2024Article
- Structural variants linked to Alzheimer's Disease and other common age-related clinical and neuropathologic traits.medRxiv : the preprint server for health sciences · 2024Article
- Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?HGG advances · 2024Article
- The APE2 nuclease is essential for DNA double-strand break repair by microhomology-mediated end joining.Molecular cell · 2023Article
- Identification and characterisation of de novo germline structural variants in two commercial pig lines using trio-based whole genome sequencing.BMC genomics · 2023Article
- Common genetic risk factors in ASD and ADHD co-occurring families.Human genetics · 2023Article
- PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform.Nucleic acids research · 2023Article
- Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders.Nature communications · 2022Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 10 institutions in 4 countries.
Funding
Abstract
Investigating genomic structural variants at basepair resolution is crucial for understanding their formation mechanisms. We identify and analyse 8,943 deletion breakpoints in 1,092 samples from the 1000 Genomes Project. We find breakpoints have more nearby SNPs and indels than the genomic average, likely a consequence of relaxed selection. By investigating the correlation of breakpoints with DNA methylation, Hi-C interactions, and histone marks and the substitution patterns of nucleotides near them, we find that breakpoints with the signature of non-allelic homologous recombination (NAHR) are associated with open chromatin. We hypothesize that some NAHR deletions occur without DNA replication and cell division, in embryonic and germline cells. In contrast, breakpoints associated with non-homologous (NH) mechanisms often have sequence microinsertions, templated from later replicating genomic sites, spaced at two characteristic distances from the breakpoint. These microinsertions are consistent with template-switching events and suggest a particular spatiotemporal configuration for DNA during the events.
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