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Related Experiment Videos

The Human Genome Project: from mapping to sequencing

J Weissenbach1

  • 1Genoscope-Centre National de Séquence, Evry, France.

Clinical Chemistry and Laboratory Medicine
|November 7, 1998
PubMed
Summary
This summary is machine-generated.

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Human genome mapping has advanced with microsatellite and single nucleotide polymorphism markers, aiding disease gene identification. Current efforts focus on massive sequencing, despite challenges in map readiness and genomic data interpretation.

Area of Science:

  • Genomics
  • Human Genetics

Background:

  • Human genome programs initially focused on mapping to identify disease genes.
  • Genetic maps utilize microsatellite markers for disease gene localization.
  • Physical maps based on yeast artificial chromosomes cover a significant portion of the genome.

Purpose of the Study:

  • To describe the progress and current state of human genome mapping initiatives.
  • To highlight the transition towards massive genome sequencing.
  • To identify limitations in current mapping and sequencing capabilities.

Main Methods:

  • Development of genetic maps with microsatellite markers.
  • Construction of physical maps using yeast artificial chromosomes and sequence-tagged sites.
  • Mapping of expressed sequences using whole genome radiation hybrids.

Related Experiment Videos

  • Advancement towards single nucleotide polymorphism maps using DNA chip technology.

    • Main Results:

    • Genetic maps now possess sufficient marker density for localizing monogenic disease genes and defining intervals for multifactorial disorders.
    • A physical map covering over 90% of the genome has been created, though with limitations for sequencing support.
    • Over 30,000 expressed sequences have been mapped, integrating with existing genomic maps.

    Conclusions:

    • The human genome program is shifting towards massive sequencing.
    • Challenges remain regarding the availability of sequence-ready maps for large parts of the genome.
    • The capacity to interpret generated genomic sequence data is currently limited.