A new genetic roadmap reveals hundreds of hidden players in HIV infection, including two proteins that stop HIV in its tracks.

Transcriptome-wide association studies (TWAS) are widely used to identify genes involved in complex traits and to infer the direction of gene effects on traits. However, despite their popularity, it r...

Gene regulatory networks encode the fundamental logic of cellular functions, but systematic network mapping remains challenging, especially in cell states relevant to human biology and disease. Here, ...

The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model predicts a simple relationship between the total frequency ...

Approaches combining genetic association and Perturb-seq data that link genetic variants to functional programs to traits are described.

Genetic studies have revealed many variant loci that are associated with immune-mediated diseases. To elucidate the disease pathogenesis, it is essential to understand the function of these variants, especially under disease-associated conditions. Here, we performed a large-scale immune cell gene-ex …

Nature - Approaches combining genetic association and Perturb-seq data that link genetic variants to functional programs to traits are described.

Genetic association studies have mostly focussed on common variants from genotyping arrays or rare protein-coding variants from exome sequencing. Here, we used whole-genome sequence (WGS) data in 672,...

Naqvi et al. reveal how DNA sequence determines the chromatin response to transcription factor (TF) dosage changes. By combining deep learning and chemical genetics, they uncover specific sequence fea...

Clinical diagnosis typically incorporates physical examination, patient history, various laboratory tests, and imaging studies but makes limited use of the human immune system’s own record of antigen ...

The nation must lose its tight focus on individual disciplines if it is to keep pace with the evolving requirements of scientific enquiry.

Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes. Although these methods are conceptually similar, we show by anal...

Resting and activated T cell states are established by context-specific regulators and dynamic gene circuits.