Shu Tadaka

JG2: an updated version of the Japanese population-specific reference genome

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.

Next-generation sequencing analysis with a population-specific reference genome

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

Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs

The paper introduces Japonica Array NEO, a SNP array for the Japanese population with enhanced coverage and disease risk SNPs, showing high imputation quality and utility in genotyping cohorts.

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)

The paper identifies seven new potentially pathogenic BRCA1/BRCA2 variants in a Japanese population using computational scores and cohort analysis.

Construction and Integration of Three De Novo Japanese Human Genome Assemblies toward a Population-Specific Reference

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.

A Recurrent Neural Network Based Method for Genotype Imputation on Phased Genotype Data

This paper introduces a recurrent neural network method for genotype imputation using phased genotype data, showing comparable accuracy to existing methods for common variants and better performance when haplotype data is limited.

3.5KJPNv2, An allele frequency panel of 3,552 Japanese Individuals

The paper constructs a population-level allele frequency panel of 3,552 Japanese individuals using a standardized pipeline and makes it publicly available.