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Hello Veronique,
Hope you are doing great.
In annotations, I have noted that certain P_loss_coordinates are coming from Hg19 reference coordinates, despite I have provided the Hg38 mode in the …
Mkddb updated
8 months ago
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Let's try to see if we can use the vep version found in nf-core modules rather than the local module.
Also version 111 is out, but that requires an update of the nf-core module. Version 111 has su…
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Hello, I am a PhD student in molecular medicine. In my group we are interested in launching SAGE to do a variant-calling in human tumors.
From what I see in the documentation, we need a file with …
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New term request alpha-N-acetylglucosaminidase low in leukocytes or cultured fibroblasts (f382): N-acetyl-alpha-D-glucosaminidase
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## Describe the issue
A clear and concise description of what the bug is.
## Additional information
Please fill in the following sections to help us find the source of your issue as quickly as po…
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As discussed on 9/5 Broad ClinGen Weekly meeting
Update the "VCEP Curated Variants Calculations April 2022"
Ask: The goal is to compare the overall classification in ClinVar PRIOR to a ClinGen …
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**Describe the bug**
I use custom search to screen our cohort for interesting variants in candidate genes that come up in various settings. Attempting the search linked below (any affected, coding va…
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His next claim is that it is very unlikely that there would be bats naturally living in the metropolitan distict of Wuhan, and in fact no bats were traded at the market at all.
Let us go one step f…
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ClinVar has announced changes to their XML to better support somatic variants in fall 2023, though support for the current format should continue at least through the end of the year. See [here](https…
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**Is your feature request related to a problem? Please describe.**
After the ACMG criteria have been published many local labs and groups have started to create alternative ways of using them. On…