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[The human genome project in the year 2000].

J Weissenbach1

  • 1Genoscope-Centre National de Séquençage et CNRS FRE2231-Evry, France.

Bulletin De L'Academie Nationale De Medecine
|March 23, 2001
PubMed
Summary

The Human Genome Project is nearing completion, with 90% of the genome sequenced. This milestone will advance gene discovery, evolutionary understanding, and multifactorial inheritance research.

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Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Context:

  • The Human Genome Project, initiated in 1990, has evolved from mapping to large-scale sequencing.
  • Significant acceleration in sequencing progress has occurred recently, with a draft sequence nearing completion.

Purpose:

  • To map and sequence the entire human genome.
  • To develop genetic, physical, and gene maps.
  • To enable identification of genes for Mendelian and multifactorial traits.

Summary:

  • The project has progressed through mapping phases (genetic, physical, gene) and shifted to massive sequencing since 1996.
  • Approximately 90% of the human genome sequence is now available in draft format.
  • The project aims for a complete sequence and finished status for all 24 human chromosomes.

Impact:

  • Facilitates efficient identification of genes associated with Mendelian phenotypes.
  • Enhances understanding of human evolution.
  • Provides a foundation for investigating complex multifactorial inheritance patterns.

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