[skneko]

I work in a Spanish university (yes, I'm a filthy academic) and just the other day we were running experiments using a research tool in relation to this new variation of TRL7. This tool is a genomic variation database aggregator that tries to act as an "oracle" of the clinical significance of the variations by running an AI algorithm on the harvested data. Very cool stuff, in spite of my area not being directly related to bioinformatics :)

[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."

[tetris11]

I detest these oracles as the variant knowledge base they pull from is often a closed box proprietary product that pulls out variants associated with the disease but rarely find anything actually causative.