Initial sequencing and analysis of the human genome
Eric S. Lander, Lauren M. Linton, Bruce Birren, Chad Nusbaum, Michael C. Zody · International Human Genome Sequencing Consortium
Summary
This paper reported the results of the publicly funded Human Genome Project, presenting and making freely available a draft sequence covering the great majority of the human genome along with an initial analysis. The consortium described the broad genomic landscape—including gene content, repeat elements, GC content, and recombination rates—and estimated a surprisingly low number of protein-coding genes, on the order of roughly 30,000–40,000. The work provided a foundational reference for human biology, medicine, and evolutionary studies.
Key findings
- Produced and freely released a draft sequence covering about 90% of the euchromatic human genome, generated by hierarchical shotgun sequencing of overlapping clones.
- Estimated the human genome to contain far fewer protein-coding genes than previously expected (initially roughly 30,000–40,000), with most of the genome non-coding and repetitive.
- Characterized large-scale features of the genome, including the distribution of repeats, GC content, CpG islands, recombination rate, and sequence variation such as single-nucleotide polymorphisms.
Subjects & keywords
Cite this paper
Eric S. Lander, Lauren M. Linton, Bruce Birren, Chad Nusbaum, & Michael C. Zody [International Human Genome Sequencing Consortium] (2001). Initial sequencing and analysis of the human genome. Nature. https://doi.org/10.1038/35057062
@article{lander2001initial,
author = {Eric S. Lander and Lauren M. Linton and Bruce Birren and Chad Nusbaum and Michael C. Zody and {International Human Genome Sequencing Consortium}},
title = {Initial sequencing and analysis of the human genome},
journal = {Nature},
year = {2001},
doi = {10.1038/35057062},
url = {https://doi.org/10.1038/35057062}
}