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Hi there,
We notice that sometimes km finds some ITD mutations with Abnormal column in 0 or Normal column in 0, while the other is not 0 value, and the variant sequences have been validated by Sanger…
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UCSC Wranglers have asked for a csv that contains "all the data".
No concrete use cases were mentioned.
I (@amnonkhen) understand this requirement as follows:
As a _data consumer_
I would like to qu…
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There is a mtDNA deletion in case 23103, which is not called in Scout. We have confirmed it with MLPA and also sequenced the breakpoints by sanger sequencing. I recently found mtDNA deletions in two o…
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> Transformation, growth (or grow from Kunkel glycerol stocks, workflow would be Kunkel, transform, selection plate, mail selection plate to Genscript, rec sequencing within 48 hours, grow appropriate…
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I've added the Sample Collection chapter. It is currently just a place holder, but I'm going to add information about collecting samples for DNA, RNA, and microbiome (maybe). @sdhutchins I'm also go…
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- [x] try calling with Varscan
-> only calls the insertion but not the deletion....
- [x] dragen + evidence BAM
-> not conclusive, only part of the region covered in evidence BAM. Seems to su…
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Since the Node/Edge Services are completed we need to test the viability of the pipeline connections. We wil hardcoded a pipeline and have it use all the services to verify that each piece is workin…
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This issue contains monthly updates to the ranked list of PubMed papers for curation. The full list can be found [here](https://github.com/tanayshah2/bioregistry/blob/5560dcf284f2c0309287e0a5a551e435e…
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This has been absorbed back into https://github.com/sanger/limber/issues/1314, as I think it makes most sense to implement them both at the same time.
**User story**
As a user of the scRNA Core Ba…
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**Description**
Sequence plate AP-rna-00182077 and sample on H07
**Who the primary contacts are for this work**
Sonia G (PAM)
Cristina A (PAM)
Neil (Original ticket for RT https://rt.sanger.ac.…