Shinichi Namba

Beyond point estimates: quantifying predictive uncertainty reveals hidden dimensions of biological age acceleration and improves risk interpretation

The paper develops a framework to quantify predictive uncertainty in biological age estimates, revealing hidden dimensions of aging and improving risk interpretation.

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

Rare k-mers reveal centromere haplogroups underlying human diversity and cancer translocations

This paper uses rare k-mers to identify centromere haplogroups in human populations and cancer translocations, revealing structural diversity and translocation mechanisms.

A Dynamic Genetic Atlas of Gestational Phenotypes

The paper identifies 4,688 genome-wide significant loci for 111 gestational phenotypes and finds dynamic genetic effects linked to maternal health outcomes.

Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

This study identifies ancestry-specific and sex-specific genetic loci for primary open-angle glaucoma through a meta-analysis of 15 biobanks, highlighting shared biology with vascular mechanisms and cell proliferation.

Quantification of escape from X chromosome inactivation with single-cell omics datasets reveals heterogeneity across cell types and tissues

The paper introduces scLinaX, a method to quantify X chromosome inactivation escape using scRNA-seq, revealing heterogeneity across cell types and tissues.

Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications

This study identifies 1,289 genetic signals for type 2 diabetes in 2.5 million individuals, revealing distinct clusters linked to vascular complications and highlighting ancestry-specific genetic risk factors.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

A practical guideline of genomics-driven drug discovery in the era of global biobank meta-analysis

This paper provides a framework for genomics-driven drug discovery using cross-population GWAS meta-analysis, identifying candidate drugs for 13 diseases through three methodologies.

Multi-sample Full-length Transcriptome Analysis of 22 Breast Cancer Clinical Specimens with Long-Read Sequencing

The paper develops a pipeline for multi-sample long-read transcriptome assembly and applies it to breast cancer specimens to identify subtype-specific isoforms and fusion transcripts.