Timothy Pham
2020-21 Trainee on National Library of Medicine (NLM) Training Grant Fellowship Program
Jonathan Lam
2020-21 Trainee on National Library of Medicine (NLM) Training Grant Fellowship Program
Jeff Jaureguy
2020-21 Trainee on NIH Training Grant in Bioinformatics
2023-25 Human Genetics Scholar Award from the American Society of Human Genetics
Characterization of gene regulatory elements using multi-omic data
Characterization of gene regulatory elements using multi-omic data
Species comparisons of brain cell types
Computational analysis of multi-omic single cell data from 4 species (mouse/marmoset/macaque/human)
Duplicated genes and association with disease
Hundreds of duplicated genes in the human genome are duplicated and many are known to be associated with a number of human diseases. However, the short read lengths of current sequencing technologies make the analysis of such genes difficult. We have developed novel tools to genotype the copy number of duplicated genes using whole-genome sequencing. The goal of this project is to analyze large-scale sequencing datasets (using cloud computing platforms) for Mendelian and complex human diseases to identify novel disease associations.