A5004773015- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Bioinformatics and Genomic Networks
- Metabolism and Genetic Disorders
- Congenital heart defects research
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Genetic factors in colorectal cancer
- Folate and B Vitamins Research
- Vitamin D Research Studies
- Protein Structure and Dynamics
- Statistical Methods in Clinical Trials
- Fibroblast Growth Factor Research
- BRCA gene mutations in cancer
- Epigenetics and DNA Methylation
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Lipoproteins and Cardiovascular Health
- Erythrocyte Function and Pathophysiology
- Salivary Gland Disorders and Functions
- Metabolomics and Mass Spectrometry Studies
- Genetic Syndromes and Imprinting
- RNA and protein synthesis mechanisms
Yale University
2021-2025
Duke Kunshan University
2025
Abstract Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases 154,587 controls of East Asian European ancestry. Our stepwise conditional analyses revealed 238 independent signals each a set credible (CCVs), which 28 had single CCV. cis-eQTL/mQTL colocalization...
Reelin and sphingosine-1-phosphate (S1P) are important in adult neurogenesis, particularly the repositioning of newly formed dentate granule cells (DGCs). The relationship between S1P new DGCs is investigated this study, with a specific focus on their functioning pathways upstream/downstream relationships. Applying gene knockdown immunostaining methods, research discovers that function same signaling pathway during DGC's process, it appears works upstream S1P. results could potentially...
Identifying genes associated with rare diseases remains challenging due to the scarcity of patients and limited statistical power traditional association methods. Here, we introduce PERADIGM (Phenotype Embedding Similarity-based Rare Disease Gene Mapping), a novel framework that leverages natural language processing techniques integrate comprehensive phenotype information from electronic health records for disease gene discovery. employs an embedding model capture relationships between...
Ischemic stroke (IS) is a highly heritable trait, and genome-wide association studies have identified several commonly occurring susceptibility risk loci for this condition. However, there are limited data on the contribution of rare genetic variation to IS.
De novo variants (DNVs) with deleterious effects have proved informative in identifying risk genes for early-onset diseases such as congenital heart disease (CHD). A number of statistical methods been proposed family-based studies or case/control to identify by screening more DNVs than expected chance Whole Exome Sequencing (WES) studies. However, the power is still limited cohorts thousands subjects. Under hypothesis that connected protein-protein interaction (PPI) networks are likely share...
Alternative splicing is a crucial cellular process in eukaryotes, enabling the generation of multiple protein isoforms with diverse functions from single gene. To better understand impact alternative on structures, protein-protein interaction and human diseases, we developed ASpdb (https://biodataai.uth.edu/ASpdb/), comprehensive database integrating experimentally determined structures AlphaFold 2-predicted models for isoforms. includes over 3400 canonical isoforms, each represented by both...
Background Genome‐wide association studies (GWAS) have succeeded in identifying tens of thousands genetic variants associated with complex human traits during the past decade, however, they are still hampered by limited statistical power and difficulties biological interpretation. With recent progress expression quantitative trait loci (eQTL) studies, transcriptome‐wide (TWAS) provide a framework to test for gene‐trait associations integrating information from GWAS eQTL studies. Results In...
Abstract Recently polygenetic risk score (PRS) has been successfully used in the prediction of complex human diseases. Many studies incorporated internal information, such as effect size distribution, or external linkage disequilibrium, functional annotation, and pleiotropy among multiple diseases, to optimize performance PRS. To leverage on multiomics datasets, we developed a novel flexible transcriptional (TRS), which messenger RNA expression levels were imputed weighted for prediction. In...
Recent studies have demonstrated that multiple early-onset diseases shared risk genes, based on findings from de novo mutations (DNMs). Therefore, we may leverage information one trait to improve statistical power identify genes for another trait. However, there are few methods can jointly analyze DNMs traits. In this study, develop a framework called M-DATA ( M ulti-trait De mutation A ssociation T est with nnotations) increase the of association analysis by integrating data correlated...
Alternative splicing is an important cellular process in eukaryotes, altering pre-mRNA to yield multiple protein isoforms from a single gene. However, our understanding of the impact alternative events on structures currently constrained by lack sufficient structural data. To address this limitation, we employed AlphaFold 2, cutting-edge structure prediction tool, conduct comprehensive analysis for approximately 3,000 human genes, providing valuable insights into its structural. Our...
Pregnancy at advanced maternal age is considered a risk factor for adverse maternal, fetal, and neonatal outcomes. Here we investigated whether could be associated with differences in the blood levels of newborn screening (NBS) markers inborn metabolic disorders on Recommended Universal Screening Panel (RUSP). Population-level NBS data from screen-negative singleton infants were examined, which included covariates such as gestational age, birth weight, collection, infant sex, parent-reported...
Pregnancy at an advanced maternal age is considered a risk factor for adverse maternal, fetal, and neonatal outcomes. Here we investigated whether could be associated with differences in the blood levels of newborn screening (NBS) markers inborn metabolic disorders on Recommended Universal Screening Panel (RUSP). Population-level NBS data from screen-negative singleton infants were examined, which included covariates such as collection, birth weight, gestational age, infant sex,...
Abstract Recent studies have demonstrated that multiple early-onset diseases shared risk genes, based on findings from de novo mutations (DNMs). Therefore, we may leverage information one trait to improve statistical power identify genes for another trait. However, there are few methods can jointly analyze DNMs traits. In this study, develop a framework called M-DATA ( M ulti-trait De mutation A ssociation T est with nnotations) increase the of association analysis by integrating data...
Abstract Ischemic stroke (IS) is a highly heritable trait. Genome-wide association studies have identified several commonly occurring susceptibility risk loci for this condition. However, there are limited data on the contribution of rare genetic variation to IS. We conducted whole-exome study IS in 152,058 UK Biobank participants (mean age 57, 6.8 [SD 8.0], 83,131 [54.7%] were females), including 1,777 cases 61.4 6.6], 666 [37.5%] females). performed single-variant analyses all variants and...
Abstract In the era of precision medicine, many biomarkers have been discovered to be associated with drug efficacy and safety responses, which can used for patient stratification response prediction. Due small sample size limited power randomized clinical studies, meta-analysis is usually conducted aggregate all available studies maximize identifying prognostic predictive biomarkers. Since data are already aggregated, it often challenging find an independent study replicate discoveries from...
Abstract De novo variants (DNVs) with deleterious effects have proved informative in identifying risk genes for early-onset diseases such as congenital heart disease (CHD). A number of statistical methods been proposed family-based studies or case/control to identify by screening more DNVs than expected chance Whole Exome Sequencing (WES) studies. However, the power is still limited cohorts thousands subjects. Under hypothesis that connected protein-protein interaction (PPI) networks are...