In a study published by the NPJ Genomic Medicine, Three young children presented with a neurodevelopmental disorder were studied to identify if there were pathogenic variants found in their ATG4D bi-allele.
Instead of blood samples, oral DNA samples were collected from two of the three participants and their families using the iSWAB-DSC device. The collected genomic DNA underwent trio exome sequencing for further genomic sequencing screening to find loss-of-function variants in ATG4D.
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