ArticleGenome research2016
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.
Article in Genome research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 49 citations in OpenAlex.
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Article
- Human-specific gene expansions contribute to brain evolution.bioRxiv : the preprint server for biology · 2025Article
- Independent expansion, selection, and hypervariability of theGenome research · 2024Article
- Independent expansion, selection and hypervariability of thebioRxiv : the preprint server for biology · 2024Article
- Telomere-to-telomere assembly of diploid chromosomes with Verkko.Nature biotechnology · 2023Article
- Chromosomal inversion polymorphisms shape human brain morphology.Cell reports · 2023Article
- A draft human pangenome reference.Nature · 2023Article
- Inversion polymorphism in a complete human genome assembly.Genome biology · 2023Article
- The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual.G3 (Bethesda, Md.) · 2023Article
- Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.Nature communications · 2022Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Article
- A high-quality assembly reveals genomic characteristics, phylogenetic status, and causal genes for leucism plumage of Indian peafowl.GigaScience · 2022Article
- Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.International journal of molecular sciences · 2022Article
- A myxozoan genome reveals mosaic evolution in a parasitic cnidarian.BMC biology · 2022Article
- Article
- HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads.Genome research · 2020Article
- An evolutionary driver of interspersed segmental duplications in primates.Genome biology · 2020Article
- Recurrent inversion toggling and great ape genome evolution.Nature genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
Abstract
Recurrent rearrangements of Chromosome 8p23.1 are associated with congenital heart defects and developmental delay. The complexity of this region has led to inconsistencies in the current reference assembly, confounding studies of genetic variation. Using comparative sequence-based approaches, we generated a high-quality 6.3-Mbp alternate reference assembly of an inverted Chromosome 8p23.1 haplotype. Comparison with nonhuman primates reveals a 746-kbp duplicative transposition and two separate inversion events that arose in the last million years of human evolution. The breakpoints associated with these rearrangements map to an ape-specific interchromosomal core duplicon that clusters at sites of evolutionary inversion (P = 7.8 × 10
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.