Rare k-mers in centromeric regions define distinct haplogroups with structural features linked to human diversity and disease susceptibility.
Genomic variations and chromosomal abnormalities
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AmpliconSuite accurately predicts ecDNA and amplification modes in 72 models and reveals ecDNA-mediated oncogene co-amplification in 6,506 pan-cancer samples.
- Open access
Micronuclear ecDNA formation under replication stress reduces tumor cell fitness and is linked to improved survival in MYCN-amplified neuroblastoma patients.
- Open access
Heterozygous SHANK3 +/- macaques exhibit sleep disturbances, social interaction changes, stereotypical behaviors, and altered brain connectivity, modeling autism spectrum disorder features.
- 1 cites
Mitotic slippage-induced whole-genome duplication causes widespread nuclear instability in polyploid cells.
- Open access
Position-aware phylogenomics reveals evolutionary signals inaccessible to traditional 'bag-of-genes' models, advancing understanding of genome evolution.
GPhase significantly improves haplotype-resolved scaffolding of complex polyploid genomes, reducing sequence missing rate by up to tens-fold and error rate by up to an order of magnitude.
- Open access
Advances in sequencing and genome editing have significantly improved detection and understanding of extrachromosomal circular DNA (eccDNA), revealing new insights into genome organization.
Fetal copy number variants are detected in 4.5% of low-risk pregnancies with non-structural ultrasound abnormalities, with variation across different ultrasound markers.
- Open access
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
Genomic abnormalities are identified in 10.3% of Tunisian patients with corpus callosum abnormalities, with pathogenic CNVs detected in 18.5% of tested cases.
- Open access
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