Comprehensive reanalysis improves diagnostic outcomes in infants with unexplained epilepsy, indicating clinical relevance.
Comprehensive reanalysis after nondiagnostic rapid genome sequencing has utility for infants with unexplained epilepsy. Our findings support implementation of reanalysis within 1-2 years after nondiagnostic genomic sequencing into routine clinical care of children with unexplained epilepsy and the expansion of clinically accredited genomic sequencing to include complex and noncoding variant detection.
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Nguyen et al. (2026) studied this question.
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