Difference between revisions of "WBConfCall 2022.04.07-Agenda and Minutes"
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* Tatiana Maroilley - Structural varaints from 20 strains, identified (duplications, deletions, inversions, inverted tandem duplications) mostly confirmed via PCR and Sanger sequencing. | * Tatiana Maroilley - Structural varaints from 20 strains, identified (duplications, deletions, inversions, inverted tandem duplications) mostly confirmed via PCR and Sanger sequencing. | ||
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| + | Action: Hinxton will follow up and ingest their data | ||
=== Help Desk === | === Help Desk === | ||
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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. | 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. | ||
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| + | Action: Hinxton will reply | ||
== Minutes == | == Minutes == | ||
* minutes go here | * minutes go here | ||
Revision as of 15:36, 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.
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
- minutes go here
