Quality assessment of the human genome sequence Schmutz, Jeremy Wheeler, Jane Grimwood, Mark Dickson, Joan Yang, Chenier Caoile, Eva Bajorek, Stacey Black, Yee Man Chan,

rom the beginning, a primary objective of the Human Genome Project (HGP) was to generate a highly accurate reference sequence for the human genome. This sequence is now essentially complete and is available in its entirety as a reference for biomedical researchers. High-through- put genome sequencing has created a fundamental shift in the paradigm for biological research. Whereas gene discovery once drove DNA sequencing, now the sequencing of entire genomes drives gene discovery. As such, it is essential that the scientific community be informed about the accuracy of this reference sequence and of its fidelity to the biological templates from which it was derived.