ArticleGenome biology2023
Inversion polymorphism in a complete human genome assembly.
Article in Genome biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.Nature communications · 2026Article
- Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.Genome research · 2026Article
- Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locus.bioRxiv : the preprint server for biology · 2026Article
- Efficient and precise inversion of genomic DNA from large to chromosomal scale.Nature chemical biology · 2026Article
- Benchmark for simple and complex genome inversions.bioRxiv : the preprint server for biology · 2025Article
- Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres.Nature genetics · 2025Article
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- Article
- Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery.Nature genetics · 2025Article
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- Investigating the origins of the mutational signatures in cancer.Nucleic acids research · 2025Review
- Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.Genome research · 2024Article
- Complex genetic variation in nearly complete human genomes.bioRxiv : the preprint server for biology · 2024Article
- Structural variation in humans and our primate kin in the era of telomere-to-telomere genomes and pangenomics.Current opinion in genetics & development · 2024Review
- Detection of an 8p23.1 Inversion Using High-Resolution Optical Genome Mapping.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Article
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- Review
- Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.NPJ genomic medicine · 2024Review
- Innovative approach for high-throughput exploiting sex-specific markers in Japanese parrotfish Oplegnathus fasciatus.GigaScience · 2024Article
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Authors and funding
14 authors.
Funding
Abstract
The telomere-to-telomere (T2T) complete human reference has significantly improved our ability to characterize genome structural variation. To understand its impact on inversion polymorphisms, we remapped data from 41 genomes against the T2T reference genome and compared it to the GRCh38 reference. We find a ~ 21% increase in sensitivity improving mapping of 63 inversions on the T2T reference. We identify 26 misorientations within GRCh38 and show that the T2T reference is three times more likely to represent the correct orientation of the major human allele. Analysis of 10 additional samples reveals novel rare inversions at chromosomes 15q25.2, 16p11.2, 16q22.1-23.1, and 22q11.21.
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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.