A5112200268- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Genetics, Bioinformatics, and Biomedical Research
- Genetics and Neurodevelopmental Disorders
- Birth, Development, and Health
- Neuroinflammation and Neurodegeneration Mechanisms
- RNA modifications and cancer
- Immune cells in cancer
- Race, Genetics, and Society
- RNA and protein synthesis mechanisms
- Genetic Syndromes and Imprinting
- Pediatric Hepatobiliary Diseases and Treatments
- Insurance, Mortality, Demography, Risk Management
- RNA Research and Splicing
Cleveland Clinic
2025
Cleveland Clinic Lerner College of Medicine
2024
Technion – Israel Institute of Technology
1981-2010
Alternative splicing (AS) is a post-transcriptional process considered to be responsible for the huge diversity of proteins in higher eukaryotes. AS events are regulated by different factors (SFs) that bind sequence elements on RNA. SFmap web server predicting putative SF binding sites genomic data (http://sfmap.technion.ac.il). implements COS(WR) algorithm, which computes similarity scores given regulatory motif based information derived from its environment and evolutionary conservation....
Repurposing existing medicines to target disease-associated genes represents a promising strategy for developing new treatments complex diseases. However, progress has been hindered by lack of viable candidate drug targets identified through genome-wide association studies (GWAS). Gene-based tests provide more powerful alternative traditional single nucleotide polymorphism (SNP)-based methods, yet current approaches often fail leverage shared heritability across populations and effectively...
<title>Abstract</title> Although high-throughput DNA/RNA sequencing technologies have generated massive genetic and genomic data in human disease, these findings not been translated into new patient treatments. To address this problem, we utilized Mendelian randomization (MR) large patient-level functional to evaluate druggable targets using Alzheimer’s disease (AD) as a prototypical example. Specifically, applied the instruments from 9 expression quantitative trait loci (eQTL) 3 protein...
High microglial heterogeneities hinder the development of microglia-targeted treatment for Alzheimer's disease (AD). We integrated 0.7 million single-nuclei RNA-sequencing transcriptomes from human brains using a variational autoencoder. predicted AD-relevant subtype-specific transition networks disease-associated microglia (DAM), tau microglia, and neuroinflammation-like (NIM). prioritized drugs by specifically targeting microglia-specific validated two independent real-world patient...
Impaired formation of the biliary network can lead to congenital cholestatic liver diseases; however, genes responsible for proper system and maintenance have not been fully identified. Combining computational structure analysis algorithms with a zebrafish forward genetic screen, we identified 24 new mutants that display impaired intrahepatic formation. Complementation tests suggested these mutations affect different genes. We applied unsupervised clustering unbiasedly classify recovered...