Research Article
Genome Sequencing of Idiopathic Speech Delay
Table 3
De novo exonic variants in the 10 speech delay proband-parent trios.
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All rare nonsynonymous de novo variants in brain-expressed transcripts are listed; the variants are not filtered for (local) gene intolerance and predicted functional impact. Chr: chromosome; MAF: minor allele frequency; pLI: probability of being loss-of-function intolerant; MIS_Z: -score for missense constraint; SIFT: Sorting Intolerant From Tolerant; PolyPhen: Polymorphism Phenotyping; REVEL: rare exome variant ensemble learner; GERP: Genomic Evolutionary Rate Profiling; NA: not available/not applicable; T: tolerated/benign; P: possibly damaging; D: deleterious; VUS: variant of unknown significance. |