How can I validate my laboratory pipeline and bioinformatics results?

We can provide detailed validation results for fastq samples against a provided VCF file with the variants that should be found in those samples.

We recommend one of the Genome In A Bottle (GIAB) reference samples (link), which can be ordered and then sequenced by your laboratory using your standard procedures. The resulting fastq files can then be uploaded to VarSome Clinical and we will provide statistics such as the False Positive and False Negative Rates, Specificity and Sensitivity using the GIAB variant golden list for that sample.