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Clinical Significance - current clinical significance does not adequately support the needs for somatic variant information.
- Current set of values defined by LOINC
![image](https://github.com/Co…
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Found while testing the changes in #1919
Leaving off the "END" tag causes `````` symbolic alts to shift to position 1 with no warning (DUP are fine).
Sample output line:
```
NC_000003.11 1 .…
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Hi,
I am using speedseq `0.1.0` to call structural variants. Most the samples are finished without error.
One particular sample gave me errors below.
I googled around and found [this](https://github…
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Hi,
There are two parts to my question:
1.) Unlike indels, complex variants reported by vardict do not have anchor bases, even if the complex variants include indels. For some of these variants, d…
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Integration of lists with information about chromosomal segments (including several genes e.g., ”chr22: 19,037,148 - 21,228,744”) for use in Scout in the same manner as we use gene lists. This is esse…
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While in a lot of regions _P. pyralis_ has low variation, I've definitely run into some situations where the gene I've cloned has coding differences from the reference, and it is unclear to me if thes…
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### Description of the bug
I really want to run this pipeline, however, I am facing several issues. First, with spades memory, I ran the assemblies out of the pipeline, and I tried to run the pipelin…
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**Background**:
OncoKB™(https://www.oncokb.org) is a precision oncology knowledge base developed at Memorial Sloan Kettering Cancer Center that contains biological and clinical information about gen…
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Hi Quentin
I haven't managed to find any information about how IGoR handles allelic variants presented in models. In default models some IGHV, TRAV and TRBV genes have several alleles (up to 7) and…
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A few variants successfully annotate when pointed to the public GN (https://www.genomenexus.org/) but are failing when pointing to the Genie GN (https://genie.genomenexus.org/). The variants are passe…