Articles

This mass spectrometry-based proteomic study profiles the plasma proteome in 2,147 children and adolescents and reveals its association with age, sex, puberty, body mass index and genetics.

Immune lymphocyte estimation from nucleotide sequencing (ImmuneLENS) infers B cell and T cell fractions from whole-genome sequencing data. Applied to the 100,000 Genomes Project datasets, circulating T cell fraction provides sex-dependent and prognostic insights in patients.

Polygenic scores derived from genome-wide association analyses of hypertrophic cardiomyopathy and genetically correlated left ventricular traits effectively stratify risk of disease and adverse outcomes in the general population and across clinical cohorts.

Simultaneous profiling of RNA and chromatin accessibility in single nuclei isolated from human postnatal brain regions from infancy to late adulthood identifies key cellular regulators and nominates target genes and mechanisms for brain-related diseases and disorders.

Pangenome analyses of 133 wild accessions of the model bryophyte Marchantia polymorpha identify adaptive features and provide insights into the mechanisms of plant adaptation to the terrestrial environment.

Analysis of 4,041 single-nucleotide variants (SNVs) linked to 13 cancers performed in primary human cell types identifies 380 potentially regulatory SNVs and their putative target genes. Editing one SNV, rs10411210, revealed that the risk allele increases RHPN2 expression and stimulus-responsive RhoA activation.

This study identifies candidate safeguard repressor transcription factors that repress alternate lineages in mature cell types and provides functional evidence that Prox1 performs such a function in hepatocytes during reprogramming, regeneration and in cancer.

This paper compares the frequency and genetic basis of clonal hematopoiesis in 136,401 admixed American participants from the Mexico City Prospective Cohort with 416,118 largely European ancestry individuals from the UK Biobank cohort.

Oncofetal (OnF) reprogramming, driven by YAP and AP-1, induces phenotypic plasticity and therapy resistance in WNT-dependent colorectal cancer (CRC). Targeting the OnF state in combination with chemotherapy substantially attenuates tumor growth in mouse models and patient-derived CRC tumoroids.

FLAMES is a machine learning approach combining variant fine-mapping, SNP-to-gene annotations and convergence-based gene prioritization scores to identify candidate effector genes at genome-wide associated loci with high accuracy.

This study shows how including different ancestry groups in a genome-wide association study for prostate-specific antigen levels can improve prostate cancer risk prediction, with implications for population screening.

This work presents a framework for estimating cell division numbers using DNA replication-associated polyguanine tract mutations, with applications for understanding tumor natural histories and origins.

This study introduces the concept of Ancestry Components and shows that they can offer improved population stratification correction for geographically correlated traits. By using ancestry-aware polygenic score construction in admixed individuals, the authors find that effect sizes are conserved across ancestry groups.

A long- and short-read barley pan-transcriptome assembled from 20 diverse barley genotypes offers insights into genotype- and tissue-dependent gene expression and function.

Xenium spatial transcriptomic profiling of pulmonary fibrosis characterizes cell composition dynamics and histopathological features associated with the disease.

Two-step Mendelian randomization, combined with multiple layers of omics evidence, implicates COL6A3-derived endotrophin as a mediator of coronary artery disease risk in the context of obesity.

Single-nucleus RNA sequencing of human visceral and subcutaneous adipose tissues is used to identify adipocyte subpopulations and explore their developmental trajectories and interactions.

Mapping of multi-omic molecular quantitative trait loci associated with tandem repeat size variation in up to 4,412 human brain samples from 1,597 donors offers insights into how these variants affect gene regulation and mediate disease risk.

Negative regulator of thermotolerance 1 (NAT1) is identified as a negative regulator of thermotolerance in rice through the NAT1–bHLH110–CER1/CER1L module. Modifying NAT1 by targeted gene editing increases wax deposition and enhances thermotolerance in rice.

Loss of Kmt2c or Kmt2d in mice drives the redeployment of KMT2A–menin to bivalent promoters, leading to changes in gene expression. This primes cells for transformation and elicits sensitivity to EGFR inhibitors.