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It has clinical value to note compound variants for cancer as a two-hit model, not only recessive disorders.
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```
{
"nodes": {
"n1": {
"categories": [
"biolink:Gene"
],
"ids": [
"NCBIGene:7252"
],
…
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### Feature Request
This issue is a solicitation for feedback on an idea.
I've been working on the [RSV pipeline](https://github.com/CDPHE-bioinformatics/CDPHE-RSV) and reusing tasks from this r…
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The current definition of ‘sequence variant’ is “a non exact copy of a sequence_feature or genome exhibiting one or more sequence_alteration”
A. As suggested for ‘sequence alterations’, SO should clar…
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https://jira.fsm.northwestern.edu/browse/RW-5513
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Hi, thanks for your excellent tool!
I am wondering about the choice of plink. Should I use the same chr in step1 and step2&3 or just randomly choose in step1? Because I noticed that step1 used chr1 p…
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Flag genes with certain issues. Relevant gene level flags should also show up on the variant page for variants in those genes.
Related to #40, #641, #765
https://atgu.slack.com/archives/CNNTF8Z4…
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## Describe the issue
A variant (X:15823107C>CAGCCGG) was not annotated using the gnomADe VCF provided (r2.1.1) by VEP b38. The gnomADe VCF has this variant present with AF=0.0147404 and so should ha…
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**Preferred gene-related syndrome label**
AFG3L2-related optic atrophy and/or ataxia
**Synonyms**
N/A
**Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ont…
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Hi,
the following things would be good to see on a hg38 track, to give people an idea how HPRC relates to the reference genome. The goal is that a genetics curator can see "does HPRC have anything …