-
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…
-
**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…
-
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 …
-
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 …
-
**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…
-
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, …
-
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,…
-
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…
-
Clinvar contains relationships between genetic variants and diseases (e.g., [BRAF V600E -> melanoma](https://www.ncbi.nlm.nih.gov/clinvar/variation/376069/?new_evidence=true#id_second)), and that rela…
-
Andreas suggested people may want to look at the "low hanging fruit" eg exomes, below X% in gnomad etc etc
At the moment all genotypes for a VCF are stored in 1 big partition.
If we pre-processed th…