My passion is in the study of the interface between RNA and Genetics. Life's 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 also am exploring the total biodiveristy of Earth's RNA viruses.
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.
Viruses are a major domain within which I explore non-coding genetics. My doctorate focused the evolutionary birth of cancer-promoting genes by endogenous retroviruses (ERVs), and since I have vastly expanded the known biodiversity of RNA viruses.
Virus discovery is a fundamental step in stopping the next pandemic. We are re-analyzing _all_ public RNA-seq data (5.7 million libraries, 10.2 Petabytes) to uncover novel RNA viruses (such as Coronaviruses) to understand the evolutionary origins of these pathogens.Site Nature Paper BiG Talk Q+Q Interview
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 RNA Society Talk
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