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**Describe the bug**
A clear and concise description of what the bug is, and what you instead expect to be happening
When searching variants on the family [BEG_916](https://seqr.broadinstitute.org/p…
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**Mondo term (ID and Label):**
Immunodeficiency 37 MONDO:0014491
**Suggested new label:**
Combined Immunodeficiency due to BCL10 Deficiency
ORCID ID:
0000-0002-4455-3112
**_Optional_: An…
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Hi guys,
I'm doing some re-classifications for the GAS cohort paper, and I quite liked Varsome's way of summarising Clinvar variants (Benign-Pathogenic) across "hotspots" (domains for regions with …
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Run AIP repeatedly in a way which simulates incremental analyses over time.
Start: 01-01-2020
Increments: 3 Months
Static: Joint Call, Consequence Annotation, AIP version, Cohort Participants, …
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#### Provide the command used or report the bug here
Still cannot figure out if there is rules to which ones doesn't get correct, but still in some cases with 1NR, not getting most recent date as f…
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I'd like to request a term for paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy. Paroxysmal nonkinesigenic dyskinesia 1 and 2 are already in DO. There are other diseases a…
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Hi,
After many tries I don't manage to generate results with grch37 assembly while I don't have any trouble with grch38 which I used for a while,
After parsing input and I 'm getting the first warni…
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Hello,
Noticed this issue with your tool DeepTrio regarding the representation of hemizygous variants in the non-pseudoautosomal (PAR) X-chromosome. This may be fixed now in 1.3? If so ignore this,…
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Recently, I encountered a complex variant with an IGV image of
Simply put, this mutation is
```
…
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When running all three of the exomiser tools(hiPHIVE, PHIVE, PHENIX), the output vcf files indicates that most of the variants have the same ExGeneSCombi score, which is abnormal.
could you please …