Partial preservation of cfDNA fragmentomic signals in methylation sequencing enables effective cancer detection models with the strongest performance from genome-wide integration.
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Genome Medicine
BioMed Central · Genomics & Bioinformatics · ISSN 1756-994X
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Genome sequencing has a diagnostic yield of 39.8% in patients with developmental disorders, outperforming standard care which has a yield of 30%, in a nationwide Belgian trial.
Blood cell composition accounts for up to 53% of variation in DNA methylation age, with a strong influence from naїve and memory T cell balance.
- Open access
Migration increases the genetic diversity of Mycobacterium tuberculosis complex strains in Hamburg but does not change local transmission patterns, which remain lineage-specific.
- Open access
A 5-day fasting intervention in healthy adults leads to significant short-term weight loss, with partial persistence at 12 weeks, and causes notable shifts in gut microbiome and metabolite profiles.
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Conserved chemoresistance across cancer types is linked to a proliferative, MYC-driven tumor state with elevated G2/M and S-phase activity, and activation of DNA repair and PI3K/AKT pathways.
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PureTarget PacBio sequencing reveals widespread genetic mosaicism with up to 18 on-target and 11 off-target variants in individual zebrafish founders.
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A model incorporating negative frequency-dependent selection accurately predicts pneumococcal vaccine replacement dynamics, guiding surveillance strategies across diverse regions.
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Pangenome-based workflow GRAF achieves higher accuracy (F1 0.86) in detecting large pathogenic variants (≥20 bp) from targeted sequencing in cardiomyopathy cases.
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Topics moving, week to 23 Oct 2026
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