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Basically, I navigate to a gene or variant and don't see my publication but it was already placed in the queue. In that way, the publication queue could be useful to someone looking to find informatio…
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From the ISCN committee we received the question whether the X and Y chromosome are considered to be the 'same chromosome pair'. In other words, is [NC_000023.11:g.630976G>T];[NC_000024.10:g.630918del…
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Related to duplicated gene-disease issue #735.
Recreate: From phenotype http://beta.monarchinitiative.org/phenotype/ZP:0007522, go to Genes tab. Count is 4, but all four are the same gene/associatio…
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Der Datensatz https://pub.h-brs.de/5398 enthält im Titel den Begriff "E-cadherin". Wenn man nur nach dem Begriff sucht, wird der Datensatz erwartungsgemäß gefunden, egal ob man ihn als Phrase mit Anfü…
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Wizard (or cards) appears after the user clicks the Get Started button:
- [ ] Add three, stubbed out, simple, initial cards -- one for genes, one for enrichment, one for network
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Want to run this command from within Biokepi pipelines (to merge multiple VCFs):
```
varlens-variants
--variants MOSAIK_Mutect.vcf
--variants MOSAIK_Strelka.vcf
--variants BWA_Mutect.vcf
--varian…
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Compound heterozygous mode is when there are two variants in the same gene, but not at the same genomic position.
- [ ] Apply quick filter to the current selection of variants
-…
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### Module Overview
This module aims to find genes predicted to impact a known feature or mechanism of the disease. It requires condition-specific knowledge and access to relevant datasets. The refe…
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Dear authors,
Firstly, thank you for such a powerful and useful package. I am hoping to use it to identify sharing/specificity of top eQTLs detected across cell-types (conditions) from scRNAseq da…