Table 2. Source of samples and reference data used in validation.

Mutation type	Test samples	Reference data
SNV/Indel	41 Coriell cell line samples	1000 Genomes Project Exomes
	NA12878	Illumina Platinum Genome
	15 BIC samples	BIC reference data
	10 positive patient samples	Orthogonal confirmation by Sanger
CNV	NA12878	Orthogonal confirmation by MLPA
	15 BIC samples	Orthogonal confirmation by MLPA
	13 reference lab samples	Reference lab results
	25 random patient samples	Orthogonal confirmation by MLPA
	9 positive patient samples	Orthogonal confirmation by MLPA