Making Sense of the Data

摘要

There is an old aphorism that you wait forever for a London bus, and then two come along together. After the huge international efforts to Sequence the human genome, the past 10 years have seen an explosion of data documenting human genetic variation, and we are at the tipping point for what will be an avalanche of high-quality human genomes. Within a few years, tens of thousands of human genomes will have been sequenced. A major strand in research since the human genome sequence has been the systematic attempt to identify, annotate, and understand the functional elements in the genome. For much of this time, the collection and analysis of human variation data might have seemed to be running in parallel to the functional work, with no direct connection. But that is illusory: Data on human genetic diversity have proved to be a valuable tool in the quest to understand human biology.