Chia‐Yen Chen

This study identifies plasma proteins linked to brain structure and neurological disorders using multi-omics integration and Mendelian randomization.

The paper identifies 260 genes associated with sleep phenotypes using rare coding variants from large-scale sequencing data, revealing distinct genetic architectures and biological mechanisms across different sleep measurements.

This study identifies genetic associations for multiple sleep disorders and medications in over 1.6 million individuals, revealing shared and unique genetic factors across sleep traits.

This study compares snRNAseq data from C9orf72, SOD1, and sporadic ALS spinal cords, identifying shared and distinct molecular features across cell types.

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

This paper introduces SuSiEx, a cross-population fine-mapping method that improves resolution and power by integrating data across ancestries, leading to more accurate identification of causal variants in complex traits and diseases.

This study evaluates polygenic score models for anthropometric traits and Type II Diabetes in Native Hawaiians, finding reduced accuracy compared to European- or East Asian-ancestry populations.

The paper identifies 979 novel genetic loci for 36 quantitative traits by analyzing data from the Taiwan Biobank, Biobank Japan, and UK Biobank, highlighting the value of diverse populations in GWAS.

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

This study identifies six genes associated with hand grip strength using rare protein-coding variants in 340,319 individuals and shows additive effects with common variants.

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

The paper integrates brain RNA-seq and genotype data to identify eQTLs and their downstream effects on brain-related diseases.

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.

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

The paper introduces the Taiwan Biobank, a large-scale biobank with genetic and phenotypic data from 150,000 individuals, highlighting its population structure and potential for genetic research.

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.

PWCoCo improves genetic colocalisation by integrating conditional and colocalisation analyses, enabling robust detection of independent signals and secondary loci in high-dimensional omics data.

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

This paper introduces PRS-CSx, a method that improves polygenic prediction across ancestrally diverse populations by integrating GWAS summary statistics and sharing genetic effects.

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.

This study combines protein and gene expression QTLs to evaluate their concordance in drug target validation, finding that 25-30% of QTL pairs show discordant effects.

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

This study examines the impact of rare protein-truncating variants on human lifespan using whole-exome sequencing data from the UK Biobank, identifying significant associations with several genes.

This study combines sequencing and genotyping data from two biobanks to identify 975 protein-coding variant associations across 744 disease endpoints, enhancing understanding of genetic disease mechanisms and drug targets.

This study identifies sex-dependent genetic risk loci shared and specific to mood and psychotic disorders using genome-wide interaction analysis.

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

This paper identifies potential nootropic drug targets by integrating large-scale cognitive GWAS and transcriptomic data to find credible druggable genes.

The paper analyzes whole exome sequencing data from the UK Biobank to identify rare coding variants associated with major depressive disorder and reveals genetic overlaps with other psychiatric disorders.