Closed buske closed 9 years ago
I will also double-check how top genes are selected (current code gets the list of all genes and computes all scores and picks top N outside of exomiser)
Yeah, I took a look at that code and couldn't find any obvious issue. Could be a problem with patient-network, but the gene does show up correctly in internal patient matching.
Found the bug. It's actually returning the _last_ (lowest-ranked) gene in the file, due to ascending rather than descending sort order. It's just the second and last gene names were similar.
For some reason, the top gene included for matchmaking from F0000010 is ATP6V0A4, rather than SRCAP, which actually has a higher score in the exomiser-annotated VCF file. ATP6V0A4 is the second-highest.