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From today's multiorganism call - the group proposes to obsolete the following terms:
- [x] 'induction by symbiont of host defense response'
- [x] 'induction by symbiont of defense-related host c…
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There are duplicate records in SpliceAI v1.3 (same variant and gene symbol, but different scores), e.g. from `tabix spliceai_scores.masked.snv.hg38.vcf.gz 2:241813895-241813895 19:39885875-39885875` w…
lacek updated
9 months ago
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### Purpose/implementation Section
#### Briefly describe the feature and provide meaningful references
ClinVar's `variant_summary.txt` and `submission_summary.txt` files are currently loaded…
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I'd like to request a term for sorbitol dehydrogenase deficiency with peripheral neuropathy. It has some overlap with Charcot-Marie-Tooth, and may be considered a subtype of CMT, you’ll need to decide…
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Hello,
Thank you for this tool, it's been a great help for analysing my data.
I have been running the bam files I generate from WGS through the lumpySV caller and then annotate the variants thr…
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I'd like to request a term for neurodevelopmental disorder with cerebellar atrophy and motor dysfunction.
OMIM: https://omim.org/entry/619333
Potential definition: Neurodevelopmental disorder wi…
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#### Provide the command used or report the bug here
ClinVar `variant_summary.txt` and `submission_summary.txt` files are currently used to obtain relevant metadata on reported variants and as inpu…
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**Describe the bug**
When a variant search with an interval location filter searches on a structural variant index, the interval filter does not properly handle breakend and multi-chromosome events. …
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For some examples, where variants have PVS1 score, and based on autoPVS1, it still remains to have PVS1 score. Therefore, no Intervar adjustment should have been made. But on final output, it says "ye…
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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…