Chiea Chuen Khor

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

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.

The paper describes the development of a national genomic infrastructure in Singapore to scale precision medicine, achieving high throughput and operational efficiency in genome sequencing.

This study benchmarks Nanopore long read RNA sequencing in human cell lines, showing improved isoform resolution compared to short reads.

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

The paper identifies rare SMPD1 variants in Asian populations that increase Parkinson's disease risk through exome sequencing and functional assays.

This paper introduces RGStraP, a tool to infer genetic population structure from RNAseq data and shows it can control for population structure in gene expression analyses.

The paper uses primate genetic data to predict human variant pathogenicity with a deep learning classifier trained on 4.3 million common missense variants.

This study presents whole-genome data from 233 primate species, revealing patterns of genetic diversity, mutation rates, and recurrent missense mutations across primate clades.

This paper evaluates polygenic risk scores for predicting common cancers in East Asians using a large cohort, finding significant risk stratification for breast, prostate, and colorectal cancers.

This study identifies gene expression changes linked to exfoliation syndrome using TWAS and finds enrichment for inflammatory genes, suggesting inflammation's role in the disease.

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

The paper identifies rare protective LOXL1 missense variants and shows their haplotypes and diplotypes are associated with reduced risk of exfoliation syndrome and glaucoma.

The paper analyzes ACE2 gene sequences in strepsirrhine primates to assess their susceptibility to SARS-CoV-2, finding high variability and potential risk in some species.

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

This study presents whole-genome sequencing data from 4,810 Singaporeans across three ethnic groups, revealing genetic structure, admixture, and improved imputation for Asian and Oceanian populations.

The paper identifies recurrent PD-L1 structural rearrangements and JAK3 mutations in NKTL patients achieving CR with PD-1 blockade therapy, suggesting genomic screening may improve patient selection.