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We should look into this. Can we better order the list of variants to give users a good chance of clicking through the variants. Inheritance could be an initial step
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Checking a gene's variants for compatability with the assigned mode of inheritance takes a long time when 100/1000's of variants are still left annotated to the gene after running Genomiser's filterin…
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View details in Rollbar: [https://app.rollbar.com/a/jimmy.andrews/fix/item/VariantGrid/4992](https://app.rollbar.com/a/jimmy.andrews/fix/item/VariantGrid/4992)
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User Feedback : 2 different transcr…
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Note krub, please help filx the order of filter using the guideline below
1. Keep all known pathogenic variants from ClinVar
2. Filter on impact on gene function, using VEP IMPACT Prediction, keep…
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Todo:
- [x] convert BAMs of legacy samples to CRAM for diagnostics (WGS and WES) when GRCh38 with false duplications masked was used
- [x] correct for GRCh38 with false duplications not masked
- [x] r…
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The additional meta-data on genetic variants is very limited. A detailed encoding of genetic variants is required which we then reference when encoding genetic variants of genes. Pharmvar just lunched…
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Currently, the auto_*, de novo, and comp_het tools search for variants by gene using solely the variants table. As such, there is a small but concerning risk that causal variants (especially compound …
arq5x updated
9 years ago
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Hello!
I've finished analyzing a large cohort using 0/1 numerical values for control/case status respectively.
Then I went to my vcf to count the distributions of variants for each group.
But wh…
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**Describe the bug**
I believe there may be a format incompatibility with RGI bwt output (--include_wildcards). It looks like when multiple reference gene lengths are identified, it throws off pars…