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HGVbase

HGVbase

A web portal summarizing all known sequence variations in the human genome.

Topic

Genetic variation, Pathology, Human biology, Genotype and phenotype, DNA polymorphism

Details

  • Operation: SNP detection, Haplotype mapping, Genotyping, Query and retrieval, Genetic variation analysis
  • Software interface: Web user interface
  • Language: Perl, Visual Basic
  • License: Not stated
  • Cost: Free
  • Version name: -
  • Credit: Fredman D, Siegfried M, Yuan YP, Bork P, Lehv√§slaiho H, Brookes AJ.
  • Contact: help at gwascentral.org, submissions _at_ gwascentral.org
  • Collection: -

Publications

Fredman D, Siegfried M, Yuan YP, Bork P, Lehväslaiho H, Brookes AJ. "HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources." Nucleic Acids Res. 2002 Jan;30(1):387-91. https://doi.org/10.1093/nar/30.1.387
PMID: 11752345
PMCID: PMC99093


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