Fumiki Katsuoka

ibSLS provides a platform for accessing multi-omics data and biospecimens from spaceflight research to support biomedical and disease studies.

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 genetic variants associated with erythrocyte traits and iron metabolism in a Japanese population, revealing a linkage disequilibrium block linked to hypochromic erythropoiesis.

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

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.

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.

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