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SNPing in the human genome.

C S Carlson1, T L Newman, D A Nickerson

  • 1Department of Molecular Biotechnology, University of Washington, Box 357330, Seattle, WA 98195-7330, USA. peterpan@mbt.washington.edu

Current Opinion in Chemical Biology
|February 13, 2001
PubMed
Summary
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Over a million human genetic markers, single nucleotide polymorphisms (SNPs), are available for genotype-phenotype studies. Research is shifting towards efficient population typing strategies for large-scale genetic mapping.

Area of Science:

  • Human genetics
  • Genomics
  • Molecular biology

Background:

  • Over one million single nucleotide polymorphisms (SNPs) are now accessible for human genotype-phenotype studies.
  • Advancements in genomic sequencing and variation analysis have generated a substantial resource of genetic markers.

Purpose of the Study:

  • To summarize the current state of genetic marker availability and the evolving focus of variation analysis.
  • To highlight the emergence of novel DNA typing strategies and their associated technologies.

Main Methods:

  • Application of new strategies for representational cloning and genome sequencing.
  • Mining high-quality sequence variations from genomic and cDNA sequences.
  • Development of various assay readout platforms for DNA typing.

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Main Results:

  • A large resource of over a million genetic markers (SNPs) is available.
  • The field is transitioning from marker identification to population typing.
  • Multiple novel typing strategies and assay readouts have been developed.

Conclusions:

  • Decreasing costs and increasing throughput of DNA typing are crucial for the large-scale application of high-density genetic maps.
  • Continued innovation in typing technologies is essential for advancing human genetic research.