Kyoko Watanabe

This study identifies 207 height-associated genes using rare protein-altering variants from over 1.4 million individuals, showing large effect sizes and overlap with Mendelian height syndromes.

The paper introduces SBAT, a method for joint testing of rare variant burden scores, showing it is well calibrated and outperforms existing tests in some scenarios.

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

This study identifies molecular signatures and cellular diversity during mouse habenula development using single-cell transcriptomics and links developmental subtypes to psychiatric disease.

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

This study uses exome sequencing of 628,388 individuals to identify genetic variants associated with clonal hematopoiesis and its health outcomes.

The paper evaluates statistical methods for assessing spatial and gene specificity in transcriptomic-neuroimaging associations, showing high rates of non-specific effects without proper null models.

The paper identifies 31 host genetic loci influencing gut microbiome composition through GWAS and suggests causal effects in inflammatory diseases.

The paper links the rapid evolutionary expansion of cognitive brain networks to gene expression patterns and shows associations with cognitive traits and disorders.

This study analyzes 4,155 GWASs to explore pleiotropy and genetic architecture across 558 traits, finding that most loci are associated with multiple traits and causal variants are enriched in coding and regulatory regions.

This study identifies 202 genome-wide significant loci for insomnia using a large sample, linking them to specific brain cell types and pathways.

This study generates human and mouse iPSC-derived grey and white matter-like astrocytes, revealing subtype-specific defects in Vanishing White Matter disease.

This study identifies 206 new genomic loci and 1,041 genes associated with intelligence using a large GWAS meta-analysis of 279,930 individuals.

This study conducts a large GWAS meta-analysis of neuroticism, identifying 136 novel genetic loci and 599 genes, with functional insights into brain regions and pathways.

This study identifies 9 novel genetic loci and 215 potential causative genes associated with Alzheimer's disease risk through a large genome-wide association analysis.

FUMA provides a web-based platform for functional annotation of GWAS results, gene prioritization, and interactive visualization using multiple biological databases.

This study investigates the association between CpG methylation and educational attainment, finding limited significant associations that may be influenced by confounding factors.