Ultra High Confidence SNP Genotyping - 99.9999% accuracy available

• Service: We determine the genotype of specified variant sites within individual genomic DNA samples provided by the customer. Ultra high confidence is obtained by using multiple independent genotyping assays. We deliver raw data, reports for each assay, and comparison reports showing the replicate genotype calls at each variant site for each sample.

• Process: Individual genotyping assays use our amplicon sequencing methods to obtain genotype calls by Sanger sequencing. We can design up to seven different independent genotyping assays for each DNA sequence target. Each assay uses completely different oligonucleotide primers. Final genotype calls are determined from the consensus of calls from all assays. Estimated error in such calls decreases by approximately one order of magnitude for each additional assay used. Overall confidence in calls is estimated in the following table:

Estimated Confidence in Genotype Calls
	Assays per target	Estimated Confidence
	2-assays	99.9%
	3-assays	99.99%
	4-assays	99.999%
	5-assays	99.9999%

• Service Options:

• Sample QC. Prior to genotyping, we can perform real-time PCR to accurately determine the concentration of functional DNA in human genomic samples. We run all samples in duplicate and we report the final DNA quantities measured.

• Additional assay validation. We can apply each assay to a library of Coriell DNA samples. This library of samples is from an ethnically diverse population and contains trios and replicates used for assay assessment.

 

 

To place an order, please visit our order page.