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A European ancestry genome-wide meta-analysis of pregnancy-associated bleeding traits identifies five novel loci associated with postpartum hemorrhage, but none with early bleeding. Functional analysis highlights a role for progesterone receptor-mediated signaling.
A multiomic approach profiles the three-dimensional, epigenetic and mutational landscapes of 80 metastatic prostate cancer biopsies. Hi-C experiments identify an extrachromosomal circular DNA at the AR locus associated with therapy resistance.
Genetic constraint identifies genes under selection against loss-of-function, but existing methods are inaccurate for shorter genes. A new study overcomes this key limitation to ascribe more confident predictions to all human protein-coding genes.
Identifying substrates of metabolic gene products is important to understand their function in physiology and disease. We developed GeneMAP, a multiomics platform for predicting metabolic gene functions using models of gene expression. We experimentally validated a top-scoring gene–metabolite association, thereby revealing a role for SLC25A48 in mitochondrial choline import.
GeneBayes is a Bayesian approach incorporating a Wright–Fisher population model with machine learning of gene features to infer an interpretable gene constraint metric that has a broad range of uses in downstream analysis.
Citrullus super-pangenome constructed using 27 telomere-to-telomere assemblies encompassing all seven Citrullus species highlights genomic diversity across wild and cultivated watermelons and the potential for crop improvement.
The African BioGenome Project (AfricaBP) Open Institute for Genomics and Bioinformatics established a series of regional workshops in 2023 to exchange knowledge and overcome barriers, which could serve as a model for other scientific communities.
Representation Learning for Genetic Discovery on Low-Dimensional Embeddings (REGLE) uses machine learning to generate low-dimensional representations of healthcare data. Applied to lung spirograms and blood volume photoplethysmograms, REGLE factors capture additional information beyond expert-defined features, suggesting the utility of this approach.
This study presents a multiomic Gene–Metabolite Association Prediction (GeneMAP) platform for discovery of metabolic gene function and identifies SLC25A48 as a mediator of mitochondrial choline import.
Infant genetic research is currently underexplored but, as highlighted in this Perspective, has the potential to impact basic science and affect educational policy, public health and clinical practice.
Idiopathic pulmonary fibrosis (IPF), a deadly lung disease of unclear etiology, lacks sufficient therapeutic options. We extensively mapped the spatial transcriptomes of patient lungs and made translational comparisons with a mouse model of lung fibrosis, providing insights into disease mechanisms and the utility of the animal model for drug discovery.
Saturation genome editing characterizes von Hippel–Lindau (VHL) coding variants and their associations with diseases. Function scores for 2,268 VHL single-nucleotide variants (SNVs) classify pathogenic alleles driving renal cell carcinoma and suggest new mechanisms by which variants impact function.
Saturation genome editing characterizes BAP1 variants and their association with disease presentation. A phenome-wide association analysis in the UK finds that BAP1 variants identified as deleterious in the study are associated with higher serum IGF-1 levels.
