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**Preferred term label:**
Aromatic L-Amino Acid Decarboxylase enzyme low in plasma
**Synonyms**
AADC
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org/app)*…
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**Is your feature request related to a problem? Please describe.**
As opposed to phenotype/pathogenicity-prediction-based filtering done in many academic studies of germline variants, diagnostic test…
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The prod gens instance is missing db tracks.
### Most importantly,
- [ ] known pathogenic variants from KG
- [x] blacklist of copy number variable or hard to call regions
- [x] DGV
### It would …
dnil updated
11 months ago
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**Describe the bug**
No likely pathogenic variants are shown (none are returned by the annonars API). It is not completely clear whether this is a bug in clinvar-this or annonars.
**To Reprodu…
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## Need
We should improve the filtering strategy for SVs, ideally with soft-filtering whenever possible.
We have many open issues regarding this. We should add these changes or close these issues…
fevac updated
10 months ago
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**Describe the bug**
I will be using case 354A5 in the new [MGH-Pathways-Teaching](https://seqr.broadinstitute.org/project/R0744_mgh_pathways_teaching/project_page) project during a course I am teach…
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## Describe the issue
HGVS cannot be annotated to some 5'UTR variants in RefSeq transcripts, although the variants may exist in cache.
For example,
NM_000518.4(HBB):c.-78A>G
NM_006493.4(CLN5):c.-…
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I'd like to request a term for dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, sometimes called MEPAN syndrome.
OMIM: https://www.omim.org/entry/617282
Potential d…
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We can use the Monarch knowledge graph to extract info on _how_ each gene is linked to each rare disease phenotype; i.e. missense mutation, splicing mutations, disrupted promoter, methylation, etc.
…
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- Can we add sorting options for each of the column in the vcf view?
fevac updated
11 months ago