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The xml chunk for this variant is:
```xml
current
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) AND Maturity-onset diabetes of the young type 2
current
criteria provi…
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### Need
As a clinician I want to be able to detect variants to a low allele frequency, as cheaply as possible, and with as few false positives as possible.
Using Sentieon Dedup from the new ve…
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VR needs to have a path for representing translocations.
Allele is currently defined as a contiguous sequence change at a single location. Translocations and junctions are unlikely to fit in that m…
reece updated
7 months ago
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Initial notes on proposed scope and definition of these VA type, based on requirements and considerations documented [here](https://docs.google.com/document/d/1J4AqGDEqyK8KAzfiowgHYKJNvzHuwHSHgkN9dleL…
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We have auto-generated content, including uniprot IDs, papers (dois?), etc.
Need:
- somewhere to put it
- somewhere to populate it
- clear links from landing page
Might use Discourse, or po…
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@MatthijsBlom suggested the following concept graph, which is a good starting point for building up to a basic understanding of proper pattern matching in Haskell.
```
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Simple P…
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Broad has release on dbGaP PCA on genotypes before imputation. Matching sample ID with self-ascertained ancestry information also found in dbGaP, I plotted PC1 vs PC2 below:
![officialpca](https://…
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I've been of the opinion for some time that VRS would work to provide the basic structures to support the representation of all variation types by computational systems. As such we run into the consta…
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Update the following URL to point to the GitHub repository of
the package you wish to submit to _Bioconductor_
- Repository: https://github.com/ncborcherding/immApex
Confirm the following by ed…
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The current VCF spec allows for a `*` allele (no brackets):
> "The ‘*’ allele is reserved to indicate that the allele is missing due to a upstream deletion."
CollectVariantCallingMetrics treats …