- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Bioinformatics and Genomic Networks
- Genetic factors in colorectal cancer
- Pancreatic and Hepatic Oncology Research
- Colorectal Cancer Screening and Detection
- Genomic variations and chromosomal abnormalities
- Cardiac electrophysiology and arrhythmias
- Gut microbiota and health
- DNA Repair Mechanisms
- BRCA gene mutations in cancer
- Genetic and phenotypic traits in livestock
- Molecular Biology Techniques and Applications
- Gastric Cancer Management and Outcomes
- Genomics and Phylogenetic Studies
- AI in cancer detection
- Diet and metabolism studies
- Gene expression and cancer classification
- Receptor Mechanisms and Signaling
- Heart Failure Treatment and Management
- Machine Learning in Healthcare
- RNA Research and Splicing
- Clostridium difficile and Clostridium perfringens research
- Genetic diversity and population structure
National Taiwan University
2018-2025
China Medical University
2022-2024
China Medical University Hospital
2022-2024
Institute of Biomedical Sciences, Academia Sinica
2013-2017
Institute of Information Science, Academia Sinica
2013-2016
Academia Sinica
2013-2016
National Yang Ming Chiao Tung University
2013-2016
Rationale and Objective Gut microbiota have been targeted by alternative therapies for non-communicable diseases. We examined the gut of a healthy Taiwanese population, identified various bacterial drivers in different demographics, compared them with dialysis patients to associate kidney disease progression changes microbiota. Study Design This was cross-sectional cohort study. Settings Participants Fecal samples were obtained from 119 volunteers, 16S rRNA sequencing done on V3-V4 regions...
Ovarian cancer is one of the top seven causes deaths. Incidence ovarian varies by ethnicity, where Asian women demonstrate lower incidence rates than non-Hispanic Blacks and Whites. Survival prediction models for have been developed Caucasians Black populations using national databases; however, whether these work Asians unclear. Therefore, a retrospective cohort study was conducted to develop survival patients with epithelial from Taiwan Cancer Registry (TCR) who underwent de-bulking...
Background: Brugada syndrome (BrS) is an oligogenic arrhythmic disease with increased risk of sudden cardiac arrest. Several BrS or ECG traits-related single-nucleotide polymorphisms (SNPs) were identified through previous genome-wide association studies in white patients. We aimed to validate these SNPs patients the Taiwanese population, assessing cumulative effect alleles and BrS-polygenic score predicting events. Methods: genotyped 190 unrelated using TWB Array, Taiwan Biobank was used as...
Hypertension has been reported as a major risk factor for diseases such cardiovascular disease, and associations between platelet activation hypertension are well-established. However, the exact nature of causality them remains unclear. In this study, bi-directional Mendelian randomization (MR) analysis was conducted on 15,996 healthy Taiwanese individuals aged 30 70 years from Taiwan Biobank, recorded 2008 2015. The inverse variance weighted (IVW) method applied to determine causal...
Cardiovascular diseases (CVDs) are the leading cause of deaths globally. Mortality and incidence CVDs significantly higher in people with mood disorders. About 81.1% CVD patients were reported comorbidities 2019, where second most common comorbidity was due to major depressive disorder (MDD). This study, therefore, aimed evaluate genetic correlation between disorders by using data from UK Biobank towards understanding influence factors on disorders.The database provides health information...
Abstract Background The Mikado pheasant (Syrmaticus mikado) is a nearly endangered species indigenous to high-altitude regions of Taiwan. This provides an opportunity investigate evolutionary processes following geographic isolation. Currently, the genetic background and adaptive evolution remain unclear. Results We present draft genome pheasant, which consists 1.04 Gb DNA 15,972 annotated protein-coding genes. displays expansion positive selection genes related features that contribute its...
It is difficult to determine which patients with stage I and II colorectal cancer are at high risk of recurrence, qualifying them undergo adjuvant chemotherapy. In this study, we aimed a gene signature using expression data that could successfully identify recurrence among patients. First, synthetic minority oversampling technique was used address the problem imbalanced due rare events. We then applied sequential workflow three methods (significance analysis microarrays, logistic regression,...
Genotype imputation is a commonly used technique that infers un-typed variants into study's genotype data, allowing better identification of causal in disease studies. However, due to overrepresentation Caucasian studies, there's lack understanding genetic basis health-outcomes other ethnic populations. Therefore, facilitating missing key-predictor-variants can potentially improve risk health-outcome prediction model, specifically for Asian ancestry, utmost relevance.We aimed construct an...
Abstract Integrated analysis of DNA variants and gene expression profiles may facilitate precise identification regulatory networks involved in disease mechanisms. Despite the widespread availability public resources, we lack databases that are capable simultaneously providing profiles, variant annotations, functional prediction scores pathogenic analyses. VariED is first web-based querying system integrates an annotation database for genetic variants. The offers a user-friendly platform...
Abstract Whole-genome doubling (WGD) is an early macro-evolutionary event in tumorigenesis, involving the of entire chromosome complement. However, its impact on breast cancer subtypes remains unclear. Here, we performed a comprehensive and quantitative analysis WGD influence patients from Taiwan consequently highlight genomic association between homologous recombination deficiency (HRD). A higher manifestation was reported triple-negative cancer, conferring high chromosomal instability...
With an aging world population, risk stratification of community-based, elderly population is required for primary prevention. This study proposes a combined score developed using electrocardiographic (ECG) parameters and determines its long-term prognostic value predicting cardiovascular mortality. A cohort-study, conducted from December 2008 to April 2019, enrolled 5,380 subjects in Taiwan, who were examined, three-serial-12-lead ECGs, their health/demographic information recorded. To...
Pancreatic cancer is one of the most malignant cancers with poor survival. The latest edition American Joint Committee on Cancer (AJCC) staging system classifies majority operable pancreatic patients as stage-III, while dramatic heterogeneity observed among these patients. Therefore, subgrouping required to accurately predict their prognosis and define a treatment plan. This study conducts cohort provide more precise classification for stage-III by utilizing clinical variables.We analyzed...
The evolutionary trajectories that drive clinical and therapeutic consequences in localized breast cancers (BCs) with ipsilateral tumor relapse (IBTR) remain largely unknown. Analyses of longitudinal paired whole-exome sequencing data from 10 BC patients IBTR reveal that, compared to primary tumors, homologous recombination (HR) deficiency, inactivation the HR pathway, chromosomal instability, somatic driver mutations are more frequent. Furthermore, three major models evolution summarized,...
Abstract Human copy number variations (CNVs) and alterations (CNAs) are DNA segments (>1000 base pairs) of duplications or deletions with respect to the reference genome, potentially causing genomic imbalance leading diseases such as cancer. CNVs further cause genetic diversity in healthy populations predominant drivers gene/genome evolution. Initiatives have been taken by research community establish large-scale databases comprehensively characterize humans. Exome Aggregation...
A region-specific method, NTR (non-threshold rare) variant detection was developed-it does not use the threshold for defining rare variants and accounts directions of effects. also considers linkage disequilibrium within region accommodates common simultaneously. weighs according to minor allele frequency odds ratio combine effects on disease occurrence into a single score provides test statistic assess significance score. In simulations, under different effect sizes, power increased as size...