Browse Articles

Tamoxifen is an essential drug in breast cancer therapy. Unlike prevailing models of therapy-related tumorigenesis, tamoxifen acts by directly activating the PI3K pathway, bypassing the need for mutations in one of the most common driver genes in sporadic uterine cancer. These findings open avenues for investigating similar mechanisms in other drugs.

Comparison of electronic health record-based phenotype risk scores (PheRS) and polygenic scores (PGS) across 13 common diseases and three biobank-based studies indicates that PheRS and PGS may provide additive benefits for risk prediction.

Lineage tracing in mice identifies a subpopulation of basal cells that express Tmprss2 and Nkx3 as the origin of ERG-driven prostate cancer. Upon expansion, these cells show an enrichment for STAT3 chromatin binding and elevated expression of KMT2A and DOT1L as dependencies for ERG oncogenicity.

This study explores the genomic and transcriptomic landscapes of triple-negative breast cancer in African American women. The authors show that the mutational profile is broadly similar to that observed in European and East Asian ancestry women while highlighting some interesting differences.

This study investigates the dosage-sensitive effects of BRG1, a core SWI/SNF subunit, on chromatin binding, accessibility and transcriptional regulation by precisely controlling its protein level.

Sequencing analysis of tamoxifen-associated uterine cancers and further in vivo analyses suggest that the drug tamoxifen can activate the PI3K pathway in the absence of oncogenic mutations.

Despite Africa’s vast genetic diversity, its populations are underrepresented in global genomic datasets. Here we describe the vision of the KidneyGenAfrica, a pan-African initiative launched to address this inequity, and call for more inclusive genomics research that recognizes Africa’s key role in genetic variation and potential to generate insights in chronic kidney disease.

This multiomic study, including single-nucleus DNA methylation and chromatin conformation matched with single-nuclei RNA sequencing, provides insights into the epigenomic landscape of human subcutaneous adipose tissue.

A genus-level super-pangenome of Avena comprising 35 high-quality genomes from 23 cultivated or wild oat species highlights the evolution of Avena and the landscape of structural variations related to abiotic stress resistance.

This analysis of whole-genome sequencing data from 421 multiple myeloma samples elucidates the timing of key genomic events and shows associations between the timing of 1q gain and clinical outcome.

New concepts for comparing the genomes of 27 naturally inbred Arabidopsis thaliana accessions provide essential insights into obtaining a less biased view of whole-genome polymorphism.

This study uses chromatin tracing to identify alterations in single-cell 3D genome conformation during the progression of Kras-driven mouse lung adenocarcinoma and pancreatic ductal adenocarcinoma, and proposes Rnf2 as a regulator of the 3D genome.

We combined CRISPR activation of all 1,836 known human transcription factors with high-throughput Perturb-seq to recreate the diverse transcriptional states occupied by fibroblasts in vivo. Our study revealed regulators of key states and showed that inducing normal states can, in some cases, suppress those linked to disease.

LDAK-KVIK is a mixed-model association method for genome-wide studies that optimizes computational performance and power. LDAK-KVIK can also perform gene-based tests and produces state-of-the-art polygenic scores.

Pan-cistrome of the maize leaf under well-watered and drought conditions profiled by haplotype-specific MOA-seq highlights the relevance of transcription factor binding QTLs for understanding phenotypic diversity in maize.