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Microbats utilize ultrasonic echolocation to navigate and locate prey, whereas megabats primarily perceive human-audible sound in daily life. High-quality genomes and single-cell atlases of auditory cortices from microbat and megabat species identify parvalbumin-positive inhibitory neurons and the complexin-1 gene to be crucial in mammalian ultrasound perception.
A machine learning-based, continuous in silico coronary artery disease (CAD) score built using electronic health record data is applied to rare variant association analysis of CAD, implicating novel candidate genes and biological mechanisms.
Analyses in BioBank Japan, UK Biobank and Tohoku Medical Megabank show that polygenic scores constructed from subgroups stratified by body mass index (BMI) can optimize type 2 diabetes risk prediction, particularly among individuals with low BMI.
Genotype × environment interactions are a key mechanism underlying human phenotypic variation and contribute to our understanding of the genetic architecture of human traits, with possible applications in personalized medicine.
Analysis of exome sequencing data identifies a missense variant in RAB32 associated with high risk of familial Parkinson’s disease. Functional studies show that this risk variant increases LRRK2 kinase activity.
We used high-throughput transposon screens to examine the responses of generalist and host-adapted Salmonella enterica serovars to 25 stress conditions that recapitulate key stages of human infection. We identified and characterized numerous typhoid-specific gene networks, revealing a role for specific pseudogenes in shaping bacterial fitness outcomes.
A CRISPR–Cas9 screen identifies genes that modulate long interspersed nuclear element-1 (LINE-1) expression in human cells. LINE-1 5′ UTRs have enhancer features and can activate long-range gene expression, including during zygotic genome activation.
Our study explored cell-specific functional consequences and clonal expansions of mosaic structural variants in distinct hematopoietic stem and progenitor cells by utilizing advanced single-cell sequencing techniques. Our single-cell multi-omics approach paves the way for future studies to focus on the roles of somatic structural variants in aging and disease.
Single-cell transcriptome profiling of human aneuploid blastocysts highlights global transcriptomic alteration and identifies novel dosage-sensitive genes in aneuploidy. Aneuploid embryos undergo unstable epiblast maturation caused by defects in the TGF-β and FGF pathways that impact trophectoderm progression.
Pooled and sex-specific genome-wide association analyses identify new risk loci for restless legs syndrome and candidates for drug repurposing. Machine learning models combining genetic and other information show improved risk prediction performance.
High-quality genomes and single-cell atlases of auditory cortices from microbat and megabat species identify neuronal populations related to ultrasound perception and implicate complexin-1 as a key component of ultrasound transmission in mammals.
GSA-MiXeR models gene heritability and variant linkage disequilibrium for improved gene set enrichment testing. GSA-MiXeR implicates relevant sets of fewer than ten genes in schizophrenia, providing more nuanced insights into trait biology.
Random barcoded transposon sequencing screens of generalist and typhoidal Salmonella determine the fitness effects of genes in a range of stress conditions and during macrophage infection, characterizing unknown genes and identifying typhoidal-specific vulnerabilities.
Systematic deletions of individual imitation switch (ISWI) subunits in mouse embryonic stem cell lines highlight the role of BPTF in regulating chromatin accessibility at most CTCF sites and binding at a subset, with a modest effect on its insulating function.
Trinucleotide repeat expansions, notably CAG repeats translated into toxic polyglutamine-containing proteins, are the leading cause of spinocerebellar ataxia (SCA). New work points to a GGC repeat expansion that encodes a polyglycine-containing protein as a cause of SCA4, highlighting polyglycine disorders as an emerging human genetic disease class.
Cross-ancestry genome-wide association studies of 3,414 brain imaging phenotypes in Chinese Han and white British participants identify autosomal and X-chromosomal associations in more diverse populations.
Functional characterization of the regulatory landscape of the adjacent costimulatory genes CD28, CTLA4 and ICOS in primary human T cell subsets identifies context-dependent programs controlling this locus critical for immune homeostasis.
This study finds that CRISPR-knockout phenotypes from genome-wide screens systematically show increased similarity to knockouts of unrelated genomically proximal genes located on the same chromosome arm. Multiple lines of evidence suggest that this proximity bias is caused by telomeric truncations of chromosome arms and is consistent across cell types, labs and Cas9 delivery methods.