How can I validate my laboratory pipeline and bioinformatics results?

We can provide detailed validation results for known individuals whose cells can be ordered by post.

The samples should be prepared through standard laboratory procedures. It is also possible to experiment with different levels of multiplexing on your Illumina NGS sequencing machine. Then send us the fastq files, and we will validate the variants against the Genome In A Bottle (GIAB) dataset giving detailed specificity and sensitivity.