Jun Takayama

This paper develops a dried blood spot proteomics method to diagnose citrin deficiency by quantifying SLC25A13 and identifying a 15-protein signature with high accuracy.

The paper uses a genome language model to analyze plant Y chromosomes from Silene and Humulus, identifying shared genomic features and evolutionary patterns despite structural divergence.

The paper introduces a polygenic risk score framework that improves type 2 diabetes risk prediction by accounting for clinical subtypes and pathway-specific contributions.

This paper updates the Japanese population-specific reference genome JG1 to JG2 using Hi-C and meta-assembly methods, improving coverage and accuracy for genetic research.

The paper identifies interparental gene conversion events in the general population, finding one event per 21.8 births and linking it to loss of heterozygosity and potential genetic disease mechanisms.

This paper constructs a fine-scale genetic map of the Japanese population using whole-genome sequencing data, identifies recombination hotspots, and shows improved haplotype phasing and imputation accuracy.

The paper develops resources for NGS analysis using the Japanese reference genome JG, including variant calling, annotation, and coordinate conversion tools.

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

The paper quantifies age-related changes in C. elegans oocyte cytoplasmic texture using statistical image processing methods.

This paper constructs and integrates three de novo Japanese human genome assemblies to create a population-specific reference, improving variant calling accuracy for Japanese individuals.