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Core Facilities

High-Throughput Polymorphism Detection

Submission of Samples for DNA Extraction

DNA can be extracted from 50-200 ul of lymphocytes (buffy coat) or whole blood. Each sample should have a unique numerical designation and should preferably be in a clearly and completely labeled screw-cap tube arranged in boxes. Properly ordered sample numbers should be submitted in an electronic format.

We highly recommend the inclusion of redundant QC samples to validate genotyping accuracy.

Submission of Samples for Plating into 96-well plates for DNA quantitation and SNP analysis

Previously isolated DNA may be submitted as tubes or 96 well plates.
Each sample should have a unique numerical designation. Properly ordered sample numbers should be submitted in an electronic format.
We highly recommend the inclusion of redundant QC samples to validate genotyping accuracy.

Submission of SNP information

The SNP to be analyzed must be defined unambiguously. This can be accomplished in one of two ways.

  1. Submit an rs# from the dbSNP database.
  2. Submit a 600 base length of unique DNA sequence with the target sequence clearly indicated in the center.
    • Only the characters A, C, G, T or N except where SNP or insertion/deletion (indel) target sites are indicated
    • Indicate SNP target site(s) with square brackets around each SNP. Within the brackets, separate the two alternative bases with a forward slash
    • Check to make sure the sequence is not present in multiple copies in the human genome

FOR EXAMPLE: ACAC[G/T]TCTC would denote two alleles: ACACGTCTC and ACACTTCTC

Note: The Assays-by-Design service proprietary software for designing primers and probes will not design a primer or probe over an ambiguous base (that is, over an N). You can annotate your sequences with Ns to avoid regions of sequence, but the use of Ns limits assay design.