"Познание начинается с удивления" (Аристотель)
Новое в науке на 2026-04-01
Single-variant and ultrarare variant burden analyses leveraging exome sequencing data from 22 cohorts identify new risk genes for amyotrophic lateral sclerosis and show cumulative effects of several rare variants on disease risk.
2026-03-31
RNA sequencing (RNA-seq) has become a foundational method for identifying which genes are active within an organism. However, connecting these gene...
2026-03-31
Analysis of sequencing data from rare disease cohorts identifies biallelic variants in RNU2-2 underlying a developmental and epileptic encephalopathy associated with reduced U2-2 abundance and clinically distinct from the dominant RNU2-2 disorder.
2026-03-30
Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes of neurodevelopmental disorders with epilepsy.
2026-03-30
A decade-long collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has successfully integrated whole genome...
2026-03-30
An analysis of whole-exome sequencing data linked to longitudinal electronic health records from 44,028 British South Asians finds new gene–phenotype associations and identifies 2,991 genes with rare biallelic predicted loss-of-function genotypes.
2026-03-27
In a recent Nature Communications paper (https://www.nature.com/articles/s41467-026-68907-1), Rice University professor James Chappell and...
2026-03-26
Czernilofsky et al. identified factors that reprogram stromal cells into an inflammatory, dysfunctional state, leading to the structural disorganization of lymph nodes in B cell lymphoma at single-cell and spatial resolutions.
2026-03-25
A large-scale genetic study has identified the five capsule types driving most multidrug-resistant bloodstream infections caused by E. coli....
2026-03-25
Proteins, made of amino acids strung together in peptide chains, carry out many essential tasks in living cells, yet determining their exact...
2026-03-18
Kelly et al. assessed an artificial intelligence system for breast cancer screening in retrospective datasets, followed by prospective feasibility evaluation, and report its accuracy, fairness and clinical implementation in multiple workflow settings.
2026-03-10
Warren et al. used data from a retrospective cohort of 50,000 women attending breast screening. Arbitration between human and AI decisions was performed in a reader study following normal arbitration workflow. After arbitration, replacing the second human reader with AI in a double-read breast screening workflow was noninferior to two human readers.
2026-03-10
