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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 Broad 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.

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