Browse Articles

Loss of MEN1 affects tumor growth, varing with the components of the tumor microenvironment. These tumors show redistribution of MLL1 on chromatin and the activation of a viral mimicry response.

Spatial molecular imaging analysis of human pancreatic adenocarcinomas describes multicellular neighborhoods in the tumor microenvironment. Ligand–receptor analysis using optimal transport-based SCOTIA identifies interleukin-6 as a mediator of chemoresistance.

Epigenetic therapy triggers myriad transposable elements to generate new antigens that could prime tumor cells for immunotherapy. A study of glioblastoma discovers indiscriminate activation in healthy cells as well, and presents a more selective strategy for potential therapeutic targeting.

Genomic analyses suggest that ~15% of transcript molecules are spliced into unproductive transcripts targeted by nonsense-mediated decay, which have a larger effect on gene expression than previously thought.

Treatment of primary glioblastoma cell lines with epigenetic therapy reactivates transposable elements (TEs). TE-derived transcripts can produce human leukocyte antigen class I-presented antigens, which could potentially be therapeutically targeted.

Gene-based rare variant analyses for 601 diseases across 748,879 individuals from three biobanks identify 363 significant associations and highlight important considerations for multi-ancestry and cross-biobank sequencing studies.

Yin Yang 1 (YY1) aids in the formation of enhancer–promoter (E–P) loops independently of cohesin. YY1 maintains a subset of E–P interactions in interphase and establishes an overlapping yet distinct set after mitotic exit.

The Human Endometrial Cell Atlas integrates single-cell transcriptomic datasets from women with and without endometriosis. Novel and known cell types are registered using spatial transcriptomics to provide a comprehensive map of the human endometrium in controls and endometriosis cases.

Genome-wide association analysis of an improved telomere length score, calculated from quantitative PCR and whole-genome sequencing measurements in 462,666 individuals in the UK Biobank, identifies novel genes and variants underlying this trait.

Genome-wide analysis of age at menopause under a recessive model identifies a stop-gain variant in CCDC201 associated with primary ovarian insufficiency. This homozygous genotype is present in 1 in 10,000 women of northern European ancestry.

The cross-population Sum of Single Effects (SuSiEx) model is a robust and computationally efficient method for conducting multi-ancestry fine-mapping of genome-wide association signals, producing smaller credible sets and capturing population-specific causal variants.

Small molecules can promote translational readthrough of premature termination codons, reducing their pathological effect. This study quantifies the readthrough of ~5,800 human pathogenic stop codons by eight drugs and builds models to predict drug-induced readthrough genome-wide.

Reducing the competitive advantage conferred by driver mutations can abrogate expansions of mutant clones in healthy tissue in mice. This suggests ways to prevent cancer and other diseases that are associated with somatic mutations in humans.

Precision oncology has just received a boost: a report on the prevalence of mutations in cancer driver genes based on whole genome sequencing of 10,000 clinical cases. The challenge ahead lies in how to explore the data to accelerate new discoveries in cancer biology while advancing precision oncology.

Longitudinal genomic and transcriptomic profiling of 1,143 patients with multiple myeloma by the Relating Clinical Outcomes in Multiple Myeloma to Personal Assessment of Genetic Profile study yields an improved copy number and gene expression subtype scheme, most notably a high-risk proliferative subtype associated with complete loss of RB1 or MAX.

A telomere-to-telomere genome assembly of the diploid cotton species Gossypium raimondii reveals centromere evolution and a Mutator transposon-linked tripartite module, miR2947–MuTC01–LEC2b that regulates cotton embryo development.

Chloroplast and whole-genome sequencing of a global germplasm panel of 355 Arachis accessions encompassing various species sheds light on the evolutionary history and phenotypic diversification of peanuts.