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.
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 vertebrate viruses.
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 BiG Talk
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