Advances in sequencing and genome editing have significantly improved detection and understanding of extrachromosomal circular DNA (eccDNA), revealing new insights into genome organization.
Genomic variations and chromosomal abnormalities
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Latest in Genomic variations and chromosomal abnormalities
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ChromBPNet accurately predicts chromatin accessibility and regulatory variants at base resolution, outperforming larger models with a lightweight design across diverse assays and contexts.
- Open access
- 135 cites
Mitotic slippage uniquely causes nuclear instability in whole-genome duplication, leading to highly variable nuclear deformations and altered genome organization.
- Open access
Genomic abnormalities were identified in 10.3% of 107 Tunisian patients with corpus callosum abnormalities, highlighting the role of pathogenic CNVs in these disorders.
- Open access
CNSigs identifies 13 pan-cancer copy number mutational signatures with high reproducibility and clinical relevance across diverse datasets.
- Open access
Population genetics reveals that cancer evolution can be quantitatively understood through models of mutation, selection, and drift, transforming genomic data into evolutionary insights.
A de novo 15q11.1-q13.3 duplication with tetrasomy and trisomy was linked to severe neurodevelopmental delays and autism in a girl, expanding known genomic variations.
- Open access
A 2.06 Mb de novo deletion at 17p13.3p13.2 causes progressive neurodevelopmental decline in a Chinese patient with isolated lissencephaly sequence, highlighting PAFAH1B1 haploinsufficiency.
- Open access
Wac deletion mutants in mice and zebrafish display craniofacial, behavioral, and neurological phenotypes similar to DeSanto-Shinawi Syndrome, highlighting their relevance as models.
- Open access
Next-generation sequencing achieved a 27.2% diagnostic yield in 353 patients at a tertiary health system, confirming 83 disorders across 71 genes.
- Open access
De novo structural variants in ASD patients more frequently disrupt neuronal regulatory interactions than in unaffected siblings, highlighting a potential genetic mechanism.
- Open access
- 7 cites
High-resolution imaging reveals complex, dynamic architecture of mammalian nucleoli essential for ribosome biogenesis.
- 1 cites
ORION-FISH uncovers early chromosomal copy-number changes and immune microenvironment differences in serous ovarian cancer at single-cell resolution.
Integrating rare and common genetic variants reveals shared pathways influencing epilepsy severity and penetrance beyond traditional models.
- Open access
Pathogenic AGO2 variants cause a spectrum of neurodevelopmental and systemic features, with 97% of individuals showing delayed speech, intellectual disability, and motor delay.
- Open access
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