A5041485740- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Systemic Lupus Erythematosus Research
- Aortic aneurysm repair treatments
- Genomics and Phylogenetic Studies
- Connective tissue disorders research
- Lipoproteins and Cardiovascular Health
- Hearing, Cochlea, Tinnitus, Genetics
- Advanced Data Processing Techniques
- Aortic Disease and Treatment Approaches
- Statistical Methods and Inference
- RNA Research and Splicing
- Genetic and phenotypic traits in livestock
- Ear Surgery and Otitis Media
University of Michigan
2021-2024
Michigan United
2024
University of Iowa
2018
The classification of genetic variants represents a major challenge in the post-genome era by virtue their extraordinary number and complexities associated with ascribing clinical impact, especially for disorders exhibiting exceptional phenotypic, genetic, allelic heterogeneity. To address this hearing loss, we have developed Deafness Variation Database (DVD), comprehensive, open-access resource that integrates all available genomic, data together expert curation to generate single each...
Intronic GGGGCC hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Despite its intronic location, this avidly supports synthesis pathogenic dipeptide (DPR) proteins via repeat-associated non AUG (RAN) translation. However, template RNA species that undergoes RAN translation endogenously remains unclear. Using long-read based 5 prime ligase mediated rapid amplification cDNA ends (Repeat RLM...
Abstract Portability of trans-ancestral polygenic risk scores is often confounded by differences in linkage disequilibrium and genetic architecture between ancestries. Recent literature has shown that prioritizing GWAS SNPs with functional genomic evidence over strong association signals can improve model portability. We leveraged three RegulomeDB-derived regulatory annotations - SURF, TURF, TLand to construct models across a set quantitative binary traits highlighting mutations tagged...
Portability of trans-ancestral polygenic risk scores is often confounded by differences in linkage disequilibrium and genetic architecture between ancestries. Recent literature has shown that prioritizing GWAS SNPs with functional genomic evidence over strong association signals can improve model portability. We leveraged three RegulomeDB-derived regulatory annotations—SURF, TURF, TLand—to construct models across a set quantitative binary traits highlighting mutations tagged trait-associated...