To appreciate a natural wonder such as a mountain range or a canal system on Mars, an observer must stand back. So it is with the human genome. As annotation progresses, some researchers are stepping back to better see patterns within the sequence. In addition to offering clues about humanity's biology and origins, the research generates positive feedback where discoveries fueled by the sequence enable researchers to refine annotation.
The human genome sequence is providing a broader, aerial view of some classic features: deletions and duplications, pseudogenes, and the forces that have melded groups of linked gene variants into blocks of shared variations known as haplotypes. While patterns of deletion and duplication mirror deep time as the primate family tree branched, pseudogenes and haplotypes illuminate our more recent heritage. And all three hallmarks of the genome may underlie or explain certain medical conditions. As on the red planet, exploration has ...
