The Human Genome Consortium paper: sequencing by collaborative mapping

In the February 15 Nature, the International Human Genome Sequencing Consortium announces the completion of the first draft of the sequence of the human genome. The publication is the achievement of the decade-long Human Genome Project based on open international collaboration (involving 20 groups) and rapid, unrestricted data release (via GenBank). The draft sequence covers 94% of the genome, which is estimated to be about 3.2 Gigabases (Gb), 25 times the size of any previously sequenced genome and 8 times the sum of all sequenced genomes. The 61-page report by Lander et al. (Nature 2001, 409:860-921) details the sequencing strategy and analysis of the genomic landscape, repetitive structures, gene content and comparisons with other sequenced genomes.

The Human Genome Project was based on a 'hierarchical shotgun sequencing' approach involving the assembly of large-scale physical maps, followed by coordinated systematic sequencing of selected clones. Bacterial and P1-derived artificial chromosomes (BACs and ...