[aksss]

Is this the SIFT and CADD systems referred to in the report:

"Bioinformatics analysis revealed a de novo, TLR7 p.Tyr264His (Y264H) missense variant that was predicted to be damaging by SIFT and CADD (Fig. 1a–c (family A) and Supplementary Table 2). This variant was not present in the databases of normal human genome variation (gnomAD, ExAC, dbSNP). Examination of the BAM files together with paternity analysis confirmed that the mutation occurred de novo (Extended Data Fig. 1a, b, d)."

I read that and thought that was pretty neat. CADD is Combined Annotation Dependent Depletion, and is "a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses." SIFT stands for Sorting Intolerant From Tolerant, and is "an algorithm that predicts the potential impact of amino acid substitutions on protein function."