Difference between revisions of "WBConfCall 2022.04.07-Agenda and Minutes"

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=== Help Desk ===
 
=== 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:
+
* 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
 
https://wormbase.org/species/c_elegans/variation/WBVar00094861#0286-475-3

Revision as of 15:31, 7 April 2022

Agenda

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

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.

Minutes

  • minutes go here