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Pharmacogenetic Analysis Using Whole Exome Sequencing of Saliva-Derived DNA Collected from Saletto® DNA
This paper investigates the suitability of extracted DNA from the Saletto® DNA for next-generation sequencing assays, specifically Whole Exome Sequencing using the Illumina NovaSeq 6000 systems. DNA was extracted from saliva collected from three donors using Saletto® DNA, and specific pharmacogenetic markers involved in drug metabolism of Warfarin, an oral anticoagulant medication, were examined. Quality control data was presented and compared against saliva samples collected with an FDA-cleared Class II device.
The results indicate that DNA extracted from Saletto® DNA is suitable for next-generation sequencing techniques and can be used to investigate genetic variants involved in drug metabolism. Average alignment coverage exceeded 100x, indicating high coverage and sequencing depth for all regions, conveying good quality and quantity of DNA used. The percentage of bases covered in the target region (important for variant calling) for each sample has been sequenced at a depth of at least 20x, and all samples showed at least 97% coverage. Concordance for SNPs and all variants between saliva collected from both devices was greater than 98% and 95%, respectively.
For more details around the study and results, please download the white paper.