ArticleCell2019
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Article in Cell, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
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Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.Genome medicine · 2022Pooled it
- De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.American journal of medical genetics. Part A · 2026Article
- A novel method for across-chromosome phasing without relative data.Bioinformatics (Oxford, England) · 2026Article
- Beyond Short Microhomologies: Mismatch-Compatible Pol θ-Mediated DNA Damage Repair.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- VACmap: an accurate long-read aligner for unraveling complex genomic rearrangements.Nature communications · 2026Article
- Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.European journal of human genetics : EJHG · 2026Article
- An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.Genome medicine · 2025Article
- Complex de novo structural variants are an underestimated cause of rare disorders.Nature communications · 2025Article
- Mechanisms and genomic implications of break-induced replication.Nature structural & molecular biology · 2025Review
- Article
- Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.Genome medicine · 2024Article
- VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.bioRxiv : the preprint server for biology · 2024Article
- Detection of mosaic and population-level structural variants with Sniffles2.Nature biotechnology · 2024Article
- Complex genetic variation in nearly complete human genomes.bioRxiv : the preprint server for biology · 2024Article
- Impact and characterization of serial structural variations across humans and great apes.Nature communications · 2024Article
- Comprehensive assessment of long-read sequencing platforms and calling algorithms for detection of copy number variation.Briefings in bioinformatics · 2024Article
- Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model.Nucleic acids research · 2024Article
- Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement.Genome research · 2024Article
- Utility of long-read sequencing for All of Us.Nature communications · 2024Article
- Beyond assembly: the increasing flexibility of single-molecule sequencing technology.Nature reviews. Genetics · 2023Review
Corrections and comments
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Authors and funding
26 authors.
Funding
Abstract
DNA rearrangements resulting in human genome structural variants (SVs) are caused by diverse mutational mechanisms. We used long- and short-read sequencing technologies to investigate end products of de novo chromosome 17p11.2 rearrangements and query the molecular mechanisms underlying both recurrent and non-recurrent events. Evidence for an increased rate of clustered single-nucleotide variant (SNV) mutation in cis with non-recurrent rearrangements was found. Indel and SNV formation are associated with both copy-number gains and losses of 17p11.2, occur up to ∼1 Mb away from the breakpoint junctions, and favor C > G transversion substitutions; results suggest that single-stranded DNA is formed during the genesis of the SV and provide compelling support for a microhomology-mediated break-induced replication (MMBIR) mechanism for SV formation. Our data show an additional mutational burden of MMBIR consisting of hypermutation confined to the locus and manifesting as SNVs and indels predominantly within genes.
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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.