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Fig. 2 | Genome Medicine

Fig. 2

From: Genomic diagnosis for children with intellectual disability and/or developmental delay

Fig. 2

Ranks of pathogenic/likely pathogenic variants filtered without parental data relative to trio-defined de novo events. Most pathogenic/likely pathogenic variants, even under models that only consider population frequencies (e.g. “Rare”), rank (based on CADD) among the top 25 hits in a patient, and many rank as the top hit. Restrictions to rare coding variants and/or those affecting OMIM/DDG2P [13, 16] genes further enrich for causal variants among top candidates, making diagnosis feasible without parents

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