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Should we consider an allelic requirement qualifier on variant pathogenicity interpretations that would allow us to capture how many copies of a variant would be required to cause the indicated diseas…
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I am summarizing my experince with digital normalization in reference based RNAseq analysis and possible future directions. I went through 3 use cases:
1. Diginorm for a group of samples in one experi…
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**Describe the bug**
Some users try to validate protein level variants such as `NP_061966.1:p.(Gln289_Gln332del)` but the error message is not sufficiently informative. Submission of this variant pro…
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Like discussed in last night's GA4GH call, I'd like to propose opening up discussion on how to include ethnicity in phenopackets 2.0.
My impression from the discussion was that simple enumeration o…
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Demonstrating GPU cost efficiency and progressing on issues raised in https://github.com/pystatgen/sgkit/issues/390 may both be aided by creating a representative public workflow for UKB GWAS. A sing…
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CWL allows to describe tools/pipelines/workflows and enhances reproducibility. Hoverer, describing is not only about how to run or technical info about execution environment but also about what this …
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Hello,
I am facing a very unexpected result from MSMC2 and am very confused about what happened. Any insights would be helpful!
[Lingonberry_cross_coalescence_refgenome_minus.pdf](https://github.c…
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These should be seen as analogous to the ``start`` and ``stop`` arguments to Python's builtin ``range``, and be specified in tree sequence coordinates. We should initially ensure that start < stop, bu…
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Hi there,
I have a question regarding the conversion observed in the output of Bullseye for single-cell data. It might be a silly question, and I might be missing something, but I can't seem to fin…
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**Describe the bug**
A user has pointed out that validation of the variant description `chr6(GRCh37):g.29639923A>G` using the interactive service produces the error message `Unable to validate the su…