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"Познание начинается с удивления" (Аристотель)
Новое в науке на 2026-04-07

WGS Confirms P. ransonneti Lacks Luciferase Gene and Steals Bioluminescence from Prey

Whole-genome sequencing has provided definitive proof that the fish Parapriacanthus ransonneti lacks the luciferase gene essential for...

2026-04-06

MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy

Burr and Auckland et. al develop MitoPerturb-Seq, which combines single-cell screening with multiomics to link nuclear genes to mitochondrial DNA (mtDNA) dynamics. They unveil core regulators of mtDNA copy number and characterize cell-cycle delays and transcriptional stress in response to mtDNA depletion.

2026-04-01

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

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

Unique Workflow Expands Functional Analysis of Fungal Genes

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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

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

Karolinska Initiative Integrates Whole Genome Sequencing to Improve Rare Disease Diagnosis

A decade-long collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has successfully integrated whole genome...

2026-03-30

Novel Method Optimizes Plasmid Creation

In a recent Nature Communications paper (https://www.nature.com/articles/s41467-026-68907-1), Rice University professor James Chappell and...

2026-03-26

Reprogramming of stroma-derived chemokine networks drives the loss of tissue organization in nodal B cell lymphoma

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

New Digital Database Maps Bacterial Capsule Type and Strain

A large-scale genetic study has identified the five capsule types driving most multidrug-resistant bloodstream infections caused by E. coli....

2026-03-25