Genomics in the Cloud

Foreword

I migrated from mathematics into the field of genomics in 1985—roughly a year before the field officially came into existence. The word genomics was coined in 1986, which also saw the first public debate, at the Cold Spring Harbor Laboratory, about the notion of mounting a Human Genome Project.

It’s hard to imagine how much has changed since then. Computers hardly figured in biomedicine—the initial design for the Whitehead Institute for Biomedical Research, founded in the early 1980s, included no provision for a computer. Large amounts of data were seen as a nuisance, not an asset—in a Nature article reporting on the Human Genome Project debate, the journal’s biology editor wrote, “If the skill and ingenuity of modern biology are already stretched to interpret sequences of known importance, such as those of the DMD and CGD genes, what possible use could be made of more sequences?”

Despite such doubts, biologists eventually decided to press on—launching the Human Genome Project, their first major data gathering effort, in 1990. One of the important motivations was the prospect of deploying systematic methods—rather than guesswork—to discover the genes responsible for human diseases. In 1980, a brilliant biologist, David Botstein, had conceived how to find the location of genes for rare monogenic diseases by tracing their inheritance in families relative to a genetic map of DNA variants across the human genome. Realizing the full power of the idea, though, would require ...