Johns Hopkins University
Michael Schatz, Bloomberg Distinguished Professor of Computer Science and Biology at Johns Hopkins University, is among the world’s foremost experts in solving computational problems in genomics research. His innovative biotechnologies and computational tools to study the sequence and function of genomes are advancing the understanding of the structure, evolution, and function of genomes for medicine – particularly autism spectrum disorders, cancer, and other human diseases – and agriculture.
Schatz, who founded and directs the Schatz Lab, has created many of the most widely used methods and software to assemble the full genetic material for a single person or a species, including:
- NGMLR and Sniffles are long-read sequencing analysis methods to study the longer fragments of DNA, a breakthrough that may yield critical information about how cancer genomes evolve. Genomes in malignant tumors often house sections of chromosomes that are deleted, duplicated or fused together. By examining an unstable genome, Schatz identified almost 20,000 structural alterations – changes previously missed by other researchers when examining shorter DNA fragments.
- Scalpel, the leading genetic variants discovery tool, to identify and analyze mutations in autism spectrum disorders and somatic mutations (or post-conception DNA alterations) in cancer genomes, including pancreatic cancers.
- GECCO (Genomic Enrichment Computational Clustering Operation), a novel algorithm to study complex non-coding and structural variations in genomes, through which his lab identified recurrent non-coding somatic mutations (DNA alterations that occur post-conception) in pancreatic cancer, including some that substantially changed survival outcomes.
- Ginkgo, a computational tool for single cell copy number profiling in heterogeneous tumors to study the progression of primary and metastatic breast tumors and adult acute myeloid leukemia.
- New computational methods including FALCON and Assemblytics for assembling and analyzing the genomes of different species using single molecule sequencing, especially plant and animal species, to study their evolution and adaption.
- CloudBurst and Crossbow, the first published algorithms to use cloud computing technologies in genomics for mapping and variant discovery.