gene.iobio
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An iobio app for examining gene variants
Load demo data. Now go to 'Files' dialog and select a file for mother. Now reload the browser window. Instead of warning user and bringing up 'Files' dialog, the first...
Joint call variants returns a variant that is outside of MTHFR gene range (platinum whole genome) SNP 11844737 (see screen print)
It would be better to set the scale for the allele counts to fill the tooltip.
gene.iobio picked ENST00000274990.4 as the canonical. But Ensembl shows ENST00000372569.7 as the first transcript. Also, refseq chose the same equivalent for the canonical NM_206922.2. I suspect that gene.iobio is using...
Zoom into a region of Clinvar Variants. Now the variant symbols overlap. http://gene.iobio.io/?rel0=proband&rel1=mother&rel2=father&gene=TP53&name0=proband&name1=mother&name2=father&sample1=10718X3&sample2=10718X2&genes=TP53&affectedSibs=&unaffectedSibs=&vcf0=https://s3.amazonaws.com/vcf.files/clinvar_20161003.vcf.gz
Allowing this can lead to some weird states when x'ing out and adding new genes.
1. Open gene and select platinum data for a trio. Click load and all panels are displayed as expected. 2. Go back to the Data modal. 3. Click 'Single'. The...
The tooltip shows 'multi-allelic' counts in the allele count bar, but it isn't prominent. Need a way to draw attention to multi-allelics.
When looking in some genes, there are no ClinVar variants, but with no counts it isn't always obvious if there are none, or that they failed to load. For example,...