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Table 3 Criteria for excluding secondary verification of SNV WGS data

From: Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

- Single base pair substitution with a sequence depth of 20x at that specific position
- Genotype quality score of 99 (GATK, maximum)
- Detected with “pass” using GATK
- Good quality using visual inspection in IGV, or similar software
- Not present in segmental duplication regions