A5040633212- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Genetic Mapping and Diversity in Plants and Animals
- Gene expression and cancer classification
- Genomics and Rare Diseases
- Bone health and osteoporosis research
- Genomic variations and chromosomal abnormalities
- Liver Disease Diagnosis and Treatment
- Bone Metabolism and Diseases
- Genomics and Phylogenetic Studies
- Hepatitis B Virus Studies
- Genetic and phenotypic traits in livestock
- Hereditary Neurological Disorders
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Hepatitis C virus research
- Color Science and Applications
- Bone health and treatments
- Growth Hormone and Insulin-like Growth Factors
- Cancer-related molecular mechanisms research
- Neurogenetic and Muscular Disorders Research
- Vacuum and Plasma Arcs
- Genetic Syndromes and Imprinting
- Electrical Fault Detection and Protection
Sun Yat-sen University
2016-2025
Fifth Affiliated Hospital of Sun Yat-sen University
2021-2025
Tianjin University of Science and Technology
2024-2025
University of Hong Kong
2015-2024
Henan Agricultural University
2020-2024
Henan University
2020-2024
Pingdingshan University
2022-2024
Bridge University
2021-2024
Guangdong Academy of Medical Sciences
2024
Guangdong Provincial People's Hospital
2024
Current genome-wide association studies (GWAS) use commercial genotyping microarrays that can assay over a million single nucleotide polymorphisms (SNPs). The number of SNPs is further boosted by advanced statistical genotype-imputation algorithms and large SNP databases for reference human populations. testing huge needs to be taken into account in the interpretation significance such studies, but this complicated non-independence because linkage disequilibrium (LD). Several previous groups...
Exome sequencing strategy is promising for finding novel mutations of human monogenic disorders. However, pinpointing the casual mutation in a small number samples still big challenge. Here, we propose three-level filtration and prioritization framework to identify mutation(s) exome studies. This efficient comprehensive successfully narrowed down whole variants very numbers candidate proof-of-concept examples. The proposed framework, implemented user-friendly software package, named KGGSeq...
Exome sequencing is becoming a standard tool for mapping Mendelian disease-causing (or pathogenic) non-synonymous single nucleotide variants (nsSNVs). Minor allele frequency (MAF) filtering approach and functional prediction methods are commonly used to identify candidate pathogenic mutations in these studies. Combining multiple may increase accuracy prediction. Here, we propose use logit model combine compute an unbiased probability of rare variant being pathogenic. Also, the first time...
Metformin is a first-line oral agent used in the treatment of type 2 diabetes, but glycaemic response to this drug highly variable. Understanding genetic contribution metformin might increase possibility personalising treatment. We aimed establish heritability using genome-wide complex trait analysis (GCTA) method.
In the past 50 years there have been considerable efforts to identify cellular receptor of hepatitis B virus (HBV). Recently, in vitro evidence from several groups has shown that sodium–taurocholate cotransporting polypeptide (NTCP, which is encoded by SLC10A1 and transports bile acids into hepatic cells enterohepatic recirculation) a strong candidate. particular, p.Ser267Phe variation results loss HBV function. We tested role NTCP as for chronic patients using genetic association study....
Genome-wide association studies (GWAS) have become increasingly popular recently and contributed to the discovery of many susceptibility variants. However, a large proportion heritability still remained unexplained. This observation raises queries regarding ability GWAS uncover genetic basis complex diseases. In this study, we propose simple fast statistical framework estimate total explained by all true variants in GWAS. It is expected that risk will not be detected due limited power. The...
The mechanism underlying neurogenesis during embryonic spinal cord development involves a specific ligand/receptor interaction, which may be help guide neuroengineering to boost stem cell-based neural regeneration for the structural and functional repair of injury. Herein, we hypothesized that supplying defects with an exogenous network in NT-3/fibroin-coated gelatin sponge (NF-GS) scaffold might improve tissue efficacy. To test this, engineered tropomyosin receptor kinase C (TrkC)-modified...
Background There is increasing interest in the concept of atrial cardiomyopathy, but underlying molecular and mechanistic determinants remain poorly defined. We identified a family with heritable cardiomyopathy manifesting as progressive atrial‐selective electromechanical dysfunction, tachyarrhythmias, bradyarrhythmias requiring pacemaker implantation. Myosin light‐chain 4 ( MYL4 ), encoding essential myosin light chain, was candidate gene. used genetically modified rat models to investigate...
Schizophrenia is a highly heritable, severe psychiatric disorder affecting approximately 1% of the world population. A substantial portion heritability still unexplained and pathophysiology schizophrenia remains to be elucidated. To identify more susceptibility loci, we performed genome-wide association study (GWAS) on 498 patients with 2025 controls from Han Chinese population, follow-up 1027 cases 1005 controls. In study, included 384 single nucleotide polymorphisms (SNPs) which were...
Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether burden rare ALS genes has an effect on survival. We performed whole genome sequencing 8 familial (FALS) patients with superoxide dismutase 1 (SOD1) mutation and exome 46 sporadic (SALS) living Hong Kong found that 67% had at least variant exons 40 genes; 22% 2 or more. Patients more lower probability survival than 0 (p = 0.001). After adjusting for other factors, each...
Whole genome sequencing (WGS) is a promising strategy to unravel variants or genes responsible for human diseases and traits. However, there lack of robust platforms comprehensive downstream analysis. In the present study, we first proposed three novel algorithms, sequence gap-filled gene feature annotation, bit-block encoded genotypes sectional fast access text lines address fundamental problems. The algorithms then formed infrastructure parallel computing framework, KGGSeq, integrating...
Abstract Age is closely related to human health and disease risks. However, chronologically defined age often disagrees with biological age, primarily due genetic environmental variables. Identifying effective indicators for in clinical practice self-monitoring important but currently lacking. The lens accumulates age-related changes that are amenable rapid objective assessment. Here, using photographs from 20 96-year-olds, we develop LensAge reflect aging via deep learning. correlated...
Though rooted in genomic expression studies, pathway analysis for genome-wide association studies (GWAS) has gained increasing popularity, since it the potential to discover hidden disease pathogenic mechanisms by combining statistical methods with biological knowledge. Generally, algorithms or programs proposed recently can be categorized different types of input data, null hypothesis counts stages. Due complexity caused SNP, gene and relationships, re-sampling strategies like permutation...
Background We are moving to second-wave analysis of genome-wide association studies (GWAS), characterized by comprehensive bioinformatical and statistical evaluation genetic associations. Existing biological knowledge is very valuable for GWAS, which may help improve their detection power particularly disease susceptibility loci moderate effect size. However, a challenging question how utilize available resources that heterogeneous quantitatively evaluate the statistic significances....
Autosomal dominant spinocerebellar ataxias (SCA) constitute a heterogeneous group of inherited disorders. The transglutaminase 6 (TGM6) gene was recently suggested as SCA causative in Chinese families. In this study, two affected members three-generation family with characterized by progressive cerebellar ataxia and lower limb pyramidal signs were subjected to whole exome sequencing. Through bioinformatics analysis the sequence variants these individuals, we identified novel mutation TGM6...
Abstract Schizophrenia is a heritable, heterogeneous common psychiatric disorder. In this study, we evaluated the hypothesis that de novo variants (DNVs) contribute to pathogenesis of schizophrenia. We performed exome sequencing in Chinese patients (N = 45) with schizophrenia and their unaffected parents 90). Forty genes were found contain DNVs. These had enriched transcriptional co-expression profile prenatal frontal cortex (Bonferroni corrected p < 9.1 × 10 −3 ) temporal parietal...
Standard genome-wide association studies, testing the between one phenotype and a large number of single nucleotide polymorphisms (SNPs), are limited in two ways: (i) traits often multivariate, analysis composite scores entails loss statistical power (ii) gene-based analyses may be preferred, e.g. to decrease multiple problem.Here we present new method, multivariate test by extended Simes procedure (MGAS), that allows phenotypes unrelated individuals. Through extensive simulation, show under...
Abstract Motivation: Prediction and prioritization of human non-coding regulatory variants is critical for understanding the mechanisms disease pathogenesis promoting personalized medicine. Existing tools utilize functional genomics data evolutionary information to evaluate pathogenicity or functions variants. However, different algorithms lead inconsistent even conflicting predictions. Combining multiple methods may increase accuracy in variant prediction. Results: Here, we compiled an...
It remains challenging to predict regulatory variants in particular tissues or cell types due highly context-specific gene regulation. By connecting large-scale epigenomic profiles expression quantitative trait loci (eQTLs) a wide range of human tissues/cell types, we identify critical chromatin features that variant potential. We present cepip, joint likelihood framework, for estimating variant's probability context-dependent manner. Our method exhibits significant GWAS signal enrichment...
Structural variation (SV) detection methods using third-generation sequencing data are widely employed, yet accurately detecting SVs remains challenging. Different often yield inconsistent results for certain SV types, complicating tool selection and revealing biases in detection.