Human Genome Project

The completion of the Human Genome Project (HGP) in April 2003 yielded a permanent foundation for biological research, and launched a new era in biomedicine. Elucidation and interpretation of the human genome is a work in progress at laboratories worldwide. Scientists in the Ó³»­´«Ã½ community are working to understand its organization and variation, and the roles these play in health and disease.

The goal of the HGP was to create a reference human genome sequence covering nearly the entire euchromatic genome and an error rate of ~1 in 10,000 bases. In fact, the final sequence covers 99% of the euchromatic genome with fewer than 350 gaps and has an error rate of ~1 in 100,000 bases. Work continues in various labs to close remaining gaps.

Current Status

Draft Genome Sequence Released June 2000
Finished Genome Sequence 2.85 Gb, released April 2003
Coverage ~99% of the euchromatic genome
Remaining gaps 341
Accuracy 1 error event per 100,000 bases
SNP collection Mapped on Hg17, 10,054,521 SNPs
Haplotype Map Current release 16c contains 1.1 M genotyped SNPs


For more information on this project, please contact us at vertebrategenomes@broadinstitute.org.

Return to the Vertebrate Biology Group homepage.