Human Custom SNP Genotyping

CIDR performs custom SNP genotyping using Illumina technology on a BeadLab system. From 96 to 60,000 investigator-chosen SNPs can be assayed per sample. Depending on the number of custom SNPs desired and the sample number to be assayed, the chemistry used is either GoldenGate or Infinium I or II. The custom SNP study service is appropriate for a variety of study designs.

Study Designs
    • Stage 2 of a Genome Wide Association study
    • Fine mapping
    • Positional or functional candidate gene

SNP Customization
    • Investigator-defined density and location
    • Selection by investigator, assistance available
    • Two chemistry options:
        • GoldenGate:
          360 sample minimum
          SNP number per sample
         – Choice of 96, 384, 1536 or multiples of 1536
        • iSelect Infinium:
          1,080 sample minimum
          SNP number per sample
         – Ranges from ~7,000 to ~60,000 attempted SNPs

Statistical Genetics Consultation
As an additional, unique option, CIDR offers the opportunity to investigators to consult on study design and statistical analysis. Investigators requesting such collaborations with CIDR scientists should detail these collaborations in their application and include appropriate letters of commitment from those involved. Investigators seeking more information on potential collaboration should contact Dr. Camilla Day at NHGRI. Such consultations need to be requested and planned well in advance. Collaboration with statistical genetics consultants incurs no additional charge for approved projects.