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Schematic of analytical test for the recurrence of de novos that considers distal splice-altering and exonic SNV and indel variants, their variant functionality scores, a genome-wide mutation rate model Roulette, and per-gene GeneBayes constraint values. “Like” variants refer to those of the same variant class (i.e., coding SNVs [ CS ], coding indels [ CI ], intronic SNVs [ IS ], intronic indels [ II ]) and within the same functionality score and minor allele frequency thresholds.

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