University of Alabama Birmingham
Doc Sherlock will use the advanced logic programming engine miniKanren, and it will use probabilistic inference rules to tackle queries inspired by physician-scientists and rank results by confidence. For example, we imagine Doc Sherlock answering the question, “What may treat 16p11.2 deletion syndrome?” by using a KP backed by something like Ensembl to look up all the genes in 16p11.2; a second KP backed by a dataset like gnomAD to rank haploinsufficient genes, e.g., “KCTD13 is haploinsufficient” [97% confidence]; a gene-gene KP like SemMedDB to find a relationship like “KCTD13 inhibits RhoA” [97% confidence] and then using a drug-gene KP to find that “Simvastatin inhibits RhoA” [99% confidence] to hypothesize that “Simvastatin may mitigate 16p11.2 deletion via RhoA inhibition” [93% imputed confidence]. To answer queries from physician-scientists, data sources which have gene-gene,drug-gene, disease-gene or drug-disease relationships will be high priority.