WBConfCall 2022.04.07-Agenda and Minutes

Agenda

• Tatiana Maroilley - Structural varaints from 20 strains, identified (duplications, deletions, inversions, inverted tandem duplications) mostly confirmed via PCR and Sanger sequencing.

Action: Hinxton will follow up and ingest their data

Help Desk

• From David Matus: I just ordered nhr-67(ot136) from the CGC, but I’m trying to make sense of the wormbase entry for the allele:

https://wormbase.org/species/c_elegans/variation/WBVar00094861#0286-475-3

It lists the point mutation as affecting the splice acceptor and it lists the VEP impact as “high” - what is the actual predicted change to the gene then? It seems like all the predictions are exactly the same as wild-type but I was thinking it must affect splicing between exon 6 and 7.

Action: Hinxton will reply

Minutes

• Tatiana Maroilley email sent to users. Paul S says we're interested in the data. Hinxton interested, Magda looked at it, Paul Davis moving forward with it.
• Ranjana forwarded a help desk issue, will make a ticket. Raymond, have we offered what they want ? Magda and Mark will look into it. Paul S says the user's been around and would know it's expected to work.
• Chris G saw an issue about the first two tools/gmap run errors, thinks acedb needs to be restarted. Todd is sick, Adam not around, Scott can't restart it, Paulo will take a look. Tree display + schema viewer + genetic map stop working when acedb goes down.
• Magda: Kevin and Paul D are leaving soon, if you have any knowledge transfer questions, please reach out. Hinxton confident it's all good.
• Adam: Reference Genome file specification (https://github.com/FFRGS/FFRGS-Specification). Please let me know if you have any questions or ideas!