My passion is in the study of the interface between RNA and Genetics. Life's most fundamental gene, ribosomal RNA, is the catalyst for protein synthesis. I am defining the functional genetic (and epigenetic) sequence variation in human ribosomal RNA, and it's impact in human disease.
I am first and foremost a geneticist, I understand life through the prism of a gene. As the genetic code led to understanding protein coding genes, I am interested in deciphering the structure and function encoded in non-protein coding genes.
My research has extensively utilized high-performance computing. In developing customized and modular bioinformatics pipelines, I can efficiently process high-dimensional data into its essential features for beautiful visualizations and statistical analysis in R.
The characteriziation of the Coronaviridae family is sparse. We are re-analyzing _all_ public RNA-seq data (1.12 million libraries, 5.75 Petabytes) to uncover new species of coronavirus and improve our phylogenomic understanding of this family.Project page Video intro (1:59)
Ribosomal RNA is the fulcrum of the central dogma of molecular biology. I discovered a highly cancer-specific single nucleotide variant (which was an RNA hyper-modification) in almost half of colorectal carcinoma patients.Cell Reports Paper Video Summary
hackseq is a bioinformatics hackathon focused on genomics. Over the past 5 years we ran innovative and collaborative events in partnership with the American Society of Human Genetics, the RNA Society, 10X Genomics, Google, and Amazon AWS. In 2017, I led my team to victory with our project, bioSyntax.Check out hackseq Check out bioSyntax