Physiology and Biophysics
Weill Cornell Medical - New York City
Interests: Epigenetics, Epigenomics, Genetics / Genomics, Human Health, Transcription Factors, Transcriptome
The Mason laboratory develops and deploys computational and experimental methodologies to identify the functional genetic elements of the human genome and metagenome. To do this, we perform research in three principal areas: (1) molecular profiling in patients with extreme phenotypes, including brain malformations, aggressive cancers, and astronauts, (2) creating new biochemical techniques in DNA/RNA sequencing and DNA/RNA base modifications, and (3) the development of bioinformatics (predictive) models for systems biology and metagenomics. We use high-throughput sequencing methods to generate single-cell, city-scale, and space-based multi-dimensional molecular maps of humans and their environments. We then develop algorithms to leverage these data for detecting, cataloging and functionally annotating interactions between these molecular changes and also connect them to larger datasets (ENCODE, TCGA, ICGC) for replication and contextualization. We also work closely with NIST/FDA to build international standards for these methods (SEQC2, IMMSA, GP-Write, and Epigenomics QC groups), to ensure clinical-quality genome measurements and editing.