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Genome-Wide Human SNP Array 6.0 #
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Affymetrix사의 SNP array 플랫폼 가운데 하나. CNV도 확인할 수 있다. GEO platform GPL6801 GWAS study에도 많이 사용됨. 줄여서 SNP6라고도 함.

Chip contents #

Total 1.8 million marker

  • 906,600 SNP markers
    • Unbiased selection of 482,000 SNPs (from 5.0)
    • Additional 424,000 SNPs
      • Tag SNPs
      • SNPs from chromosomes X and Y
      • Mitochondrial SNPs
      • New SNPs added to the dbSNP database
      • SNPs in recombination hotspots
  • 946,000 CNV probes
    • 202,000 probes targetting 5,677 known CNV region from the Toronto Database of Genomic Variants
    • Regions resolve into 3,182 distinct, non-overlapping segments (on average 61 probes per region)
    • 744,000 probes, evenly spaced along the genome

특징 #

Allele-specific copy number 확인 가능

(Genotype information in addition to the quantitative copy number information from a single assay allows researchers to identify uniparental disomy events and distinguish between different genetic mechanisms of loss of heterozygosity (LOH).)

분석 소프트웨어 #

  1. Genotyping Console Software: Affymetrix GUI
  2. Affymetrix Power Tools: Command line interface
  3. PennCNV

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