A5077344105- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- RNA and protein synthesis mechanisms
- Receptor Mechanisms and Signaling
- CRISPR and Genetic Engineering
- Gene Regulatory Network Analysis
- Genetic and phenotypic traits in livestock
- Pharmacogenetics and Drug Metabolism
- Viral Infections and Immunology Research
- Genetic Mapping and Diversity in Plants and Animals
- Drug Transport and Resistance Mechanisms
- Genetic Associations and Epidemiology
Chulalongkorn University
2020-2025
King Chulalongkorn Memorial Hospital
2022
Thai Red Cross Society
2022
BACKGROUND: Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants the SCN5A gene encoding Na v 1.5 sodium channel and common noncoding at this locus are robustly associated with condition. BrS particularly prevalent Southeast Asia but underlying ancestry-specific factors remain largely unknown. METHODS: Genome sequencing of probands population-matched controls from Thailand was performed to identify rare SCN5A-SCN10A were...
Publicly available pharmacogenomics (PGx) databases enable translation of genotype data into clinically actionable information. As variation within pharmacogenes is population-specific, this study investigated the spectrum 25 relevant in Thai population (n = 291) from whole genome sequencing. The bioinformatics tool Stargazer was used for phenotype prediction, through assignment alleles and detection structural variation. Known unreported potentially deleterious PGx variants were identified....
Abstract Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants the SCN5A gene, encoding Na v 1.5 sodium channel, and common non-coding at this locus, are robustly associated with condition. BrS particularly prevalent Southeast Asia but underlying ancestry-specific factors remain largely unknown. Here, we performed genome sequencing of probands from Thailand population-matched controls identified rare variant an intronic...
Abstract Variant imputation, a common practice in genome-wide association studies, relies on reference panels to infer unobserved genotypes. Multiple public are currently available with variations size, sequencing depth, and represented populations. Currently, limited data exist regarding the performance of when used an imputation populations underrepresented panel. Here, we compare various panels: 1000 Genomes Project, Haplotype Reference Consortium, GenomeAsia 100 K, recent Trans-Omics for...
Brugada syndrome (BS) is an autosomal dominant inheritance cardiac arrhythmia disorder associated with sudden death in young adults. Thailand has the highest prevalence of BS worldwide, and over 60% patients still have unclear disease etiology. Here, we performed a new viral metagenome analysis pipeline called VIRIN validated it whole genome sequencing (WGS) data HeLa cell lines hepatocellular carcinoma. Then was applied to identify integration positions from unmapped WGS Thai males,...
Abstract Background/Introduction Brugada syndrome (BrS) is an inherited arrhythmia condition that can cause sudden cardiac death. Rare coding and common non-coding genetic variation in the Nav1.5 sodium channel-encoding SCN5A gene robustly associated with BrS, but role of rare low frequency variants remains unexplored. BrS several times more prevalent Southeast Asia compared to other populations, indicating ancestry-specific risk factors remain be discovered. Purpose To identify characterise...