His contributions have led to highly cited publications in Science, Nature, the Lancet and other leading scientific journals. Sasha is also a co-founder and Director of Informatics at the Harvard Personal Genome Project.
As millions of people all over the world get their genome sequenced, physicians and researchers as well as the individuals themselves will want to ask questions of these data. To ask questions at a planet scale, however, we must re-imagine the computational and storage infrastructure required. We also need a consistent naming scheme for parts of the genome. To address this we invented tiling – a technique that divides the genome into about 10 million overlapping, variable-length sequences, or “tiles”, each with a unique 24-base tag at each end. We use examples from public data to show tiling supports simple and consistent names, annotation, queries, machine learning,
and clinical screening. Someday soon the general public may get to
know the tiles in their own genomes, while researchers and doctors may use the information to realize precision medicine.