Mark B. Gerstein
This wiring diagram gives us framework to interpret the many variants of personal genomes that don’t directly affect genes.

Science & Medicine Pioneer

Mark B. Gerstein

Genomics & Bioinformatics, Yale

Mark Gerstein is the Albert L. Williams Professor of Biomedical Informatics and Professor of Molecular Biophysics & Biochemistry, and of Computer Science at Yale University. Gerstein is also the co-director of the Yale Computational Biology and Bioinformatics Program and he runs the Gerstein Lab.


Gerstein’s lab interprets and annotates genomes using data science, particularly as it relates to disorders such as cancer. They focus on particular types of variants, which involve the rearrangement of large blocks of the genome (structural variation). It is believed that structural variants involve as many nucleotides in the genome as the better-known single nucleotide polymorphism (SNPs). Moreover, rearrangements are very prevalent in genomic diseases such as cancer, and Gertstein's lab has developed tools for identifying them (e.g., using split reads and fusion genes).

Overall, the Gerstein Lab acts a connector, bringing quantitative approaches from disciplines such as computer science and statistics to bear on practical questions and large-scale data in molecular biology.

“We now have a parts list of what makes us human,” Gerstein said of a detailed analysis by his team at Yale, showing how regulatory information is organized in the human genome. “What we are doing is figuring out the wiring diagram of how it all works.”

Gerstein has received a number of fellowships including the American Association for the Advancement of Science, the Damon Runyon Cancer Research Foundation, and the International Society for Computational Biology. He has published more than 400 papers in Science, Nature, and other scientific journals, and he serves on a number of editorial and advisory boards, including those of PLoS Computational Biology, Genome Research, Genome Biology, and Molecular Systems Biology.