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Does specifying this option remove off-target variants, or keep them? And is the default to keep them or remove them? It isn't quite clear.
```
-T,--remove-off-target-syn Keep off-target…
buske updated
9 years ago
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The BRCA challenge is a driving project of the GA4GH whose mission is to construct a global database of BRCA1 and BRCA2 variants to facilitate rapid and reliable clinical diagnosis and to support coll…
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It appears that _anywhere_ the string `vcf` appears in the path of the output file, it is substituted with `genes.tsv`, even if it doesn't appear at the end (note that the `vcf` directory is changed t…
buske updated
9 years ago
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It seems that indels are not getting parsed correctly, resulting in the AF and dbSNP lookups to fail.
For example, the VCF file contains:
`chr11 61165731 . C CA`
This results i…
buske updated
9 years ago
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With the release of the 0.1 version of the allele data model immanent, we need to open a discussion on the next effort for the work group. We know that there will already be effort put towards suppor…
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**Proposed topic for ASHG**
So far we have been ignoring Auth. But we all know that in the real world a large fraction of. Are there parts of an auth model that should be standardised - or not - and …
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Please see thread at http://groups.google.com/group/obi-biomaterial/browse\_thread/thread/f6a137b3c7748600
Reported by: alanr
Original Ticket: "geneontology/ontology-requests/5649":https://sourcefor…
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You wrote in the exomiser draft protocol that there is a TAB delimited file format. Right now there exists one for genes. I think if people using pipelines it will be great to have a TSV-file with the…
visze updated
9 years ago
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I received a note to indicate that the full COL3A1 sequence was there. But it isn't. The annotation in this data base ends at the end of exon 48 and there are 51 exons in the gene. See the EVS anno…
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Add new entry below Exomiser:
PhenIX: Phenotypic Interpretation of eXomes, is a pipeline for prioritizing candidate genes in exomes or NGS panels with comprehensive coverage of human Mendelian disease…