Jianjun Liu

High-throughput plasma proteomic platforms: Insights from a multi-ethnic Asian cohort

The paper compares three proteomic platforms in a multi-ethnic Asian cohort, finding limited overlap, platform-specific performance metrics, and ethnicity-related protein differences.

Germline genetic risk converges through intercellular crosstalk in tumor microenvironment

The paper integrates genetic and transcriptomic data to show that germline variants influence tumor microenvironment cell interactions and prognosis in nasopharyngeal carcinoma.

Stratifying Lung Adenocarcinoma Risk with Multi-ancestry Polygenic Risk Scores in East Asian Never-Smokers

The paper develops and validates multi-ancestry polygenic risk scores for LUAD in East Asian never-smokers, showing improved risk prediction compared to East Asian-only models.

A Complete Telomere-to-Telomere Diploid Reference Genome for Indian Population

The paper presents a high-quality, gapless diploid reference genome for an Indian population, revealing extensive structural variation and improved performance for genomic analysis in South Asian samples.

Large-Scale Whole-Exome Sequencing Association Study Implicates Genetic Effects on Viral Oncogenesis and Tumor Microenvironment in Nasopharyngeal Carcinoma

This study identifies three novel germline variants associated with nasopharyngeal carcinoma risk and introduces a refined polygenic risk score linked to EBV infection.

The Hitchhiker's Guide to Sequencing Data Types and Volumes for Population-Scale Pangenome Construction

This study evaluates optimal long-read data types and volumes for chromosome-level haplotype-resolved pangenome assembly, providing guidelines for sequencing platform selection and coverage.

Genome-Wide Interaction Analysis with DASH Diet Score Identified Novel Loci for Systolic Blood Pressure

The paper identifies novel genetic loci associated with systolic blood pressure that interact with the DASH diet score through genome-wide interaction analysis.

RAPTOR: A Five-Safes approach to a secure, cloud native and serverless genomics data repository

RAPTOR provides a secure, cloud-native genomics repository with a five-safes framework to ensure compliance and data protection for genomic research.

Improving Polygenic Prediction in Ancestrally Diverse Populations

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

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population

The paper describes the RYR1 variant landscape in a Singapore cohort using whole genome sequencing, identifying pathogenic variants and their allele frequencies across ethnic groups.

Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

Genome Wide Study of Tardive Dyskinesia in Schizophrenia

This study performs the largest GWAS of tardive dyskinesia, identifies novel and suggestive loci, and explores polygenic risk and biological pathways.

Validation Study of HLA-B*13:01 as a Biomarker of Dapsone Hypersensitivity Syndrome in Leprosy Patients in Indonesia

This study validates HLA-B*13:01 as a biomarker for Dapsone Hypersensitivity Syndrome in Indonesian leprosy patients, showing strong association and high predictive accuracy.

Identification of type 2 diabetes loci in 433,540 East Asian individuals

This paper identifies 56 new type 2 diabetes loci in 433,540 East Asian individuals through a meta-analysis of GWAS data.

Comparative genetic architectures of schizophrenia in East Asian and European populations

This study identifies schizophrenia genetic associations in East Asian and European populations, finding similar genetic effects across ancestries but highlighting challenges in polygenic risk prediction across groups.

Genome sequencing analysis identifies high-risk Epstein-Barr virus subtypes for nasopharyngeal carcinoma

The paper identifies two EBV variants in BALF2 associated with increased NPC risk through genome sequencing and association studies in China.

A study of Kibbutzim in Israel reveals risk factors for cardiometabolictraits and subtle population structure

The paper analyzes genetic and environmental factors in Israeli kibbutzim to identify cardiometabolic trait associations and population structure.

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

This paper develops a cost-effective and efficient sequencing protocol for the filaggrin gene to detect disease-associated variants across diverse populations.

Combining Semantic Similarity and GO Enrichment for Computation of Functional Similarity

The paper introduces a method that improves functional similarity computation by incorporating GO term enrichment, enhancing performance in predicting sequence homologies, gene expression correlations, and protein-protein interactions.