Validation Control Accuracy testing statistically measures the agreement between the called variants in the control sample assembly (“validation control”) against a curated answer set for that reference material (“standard”). .

In this tutorial, you will use SeqMan NGen to create a validation control assembly for human samples. The workflow uses a human genome template from the DNASTAR website and HapMap/1000 Genomes data from participant NA12878 from Genome in a Bottle (GIAB) and the National Center for Biotechnology Information (NCBI). Once the assembly is complete, you will then import the data into ArrayStar’s Variants workflow for analysis.

Begin with Part A: Creating the validation assembly in SeqMan NGen.

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