ArticleNature communications2024
Impact and characterization of serial structural variations across humans and great apes.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Telomere-to-telomere genome assembly and a pangenome for the rat.Cell genomics · 2026Article
- Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.European journal of human genetics : EJHG · 2026Review
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Distinct mechanisms of CNV formation at the human 15q13.3 locus.bioRxiv : the preprint server for biology · 2026Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- LYCEUM: learning to call copy number variants on low-coverage ancient genomes.Bioinformatics (Oxford, England) · 2025Article
- HiFi long-read genomes for difficult-to-detect, clinically relevant variants.American journal of human genetics · 2025Article
- Three decades of rat genomics: approaching the finish(ed) line.Physiological genomics · 2024Review
- Complex genetic variation in nearly complete human genomes.bioRxiv : the preprint server for biology · 2024Article
- Constructing founder sets under allelic and non-allelic homologous recombination.Algorithms for molecular biology : AMB · 2023Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Modern sequencing technology enables the systematic detection of complex structural variation (SV) across genomes. However, extensive DNA rearrangements arising through a series of mutations, a phenomenon we refer to as serial SV (sSV), remain underexplored, posing a challenge for SV discovery. Here, we present NAHRwhals ( https://github.com/WHops/NAHRwhals ), a method to infer repeat-mediated series of SVs in long-read genomic assemblies. Applying NAHRwhals to haplotype-resolved human genomes from 28 individuals reveals 37 sSV loci of various length and complexity. These sSVs explain otherwise cryptic variation in medically relevant regions such as the TPSAB1 gene, 8p23.1, 22q11 and Sotos syndrome regions. Comparisons with great ape assemblies indicate that most human sSVs formed recently, after the human-ape split, and involved non-repeat-mediated processes in addition to non-allelic homologous recombination. NAHRwhals reliably discovers and characterizes sSVs at scale and independent of species, uncovering their genomic abundance and suggesting broader implications for disease.
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