gene.iobio
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An iobio app for examining gene variants
Have we ever thought of adding a filter for the minimum number (or percent) of alt alleles observed? I see this sort of stuff all the time where there's very...
It's be great to have a link to the DECIPHER gene page within the gene information panel Example here: https://decipher.sanger.ac.uk/gene/CDH2#overview/clinical-info for CDH2 Allows the user to follow phenotypes reported in...
DGIdb is a drug-gene interaction database http://www.dgidb.org/ Would allow users to find drugs that potentially target their gene of interest. Has an API too
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When selecting sample IDs from dropdown, prompt user if they've selected the same sample ID for multiple individuals in trio, or if they've done something similarly "stupid". Ie, "Warning, proband...
I wonder if it is worth removing / minimizing introns in the gene models, especially when looking at exome data? Take a gene like RAI1: The overwhelming majority of the...
Sometimes the exon is coloured purple, sometimes not.
Sometimes the exon is coloured purple, sometimes not.
Al - Do you know if there are any issues with the ClinVar annotations? I just pulled up proband .....52 in study A259. I had this listed as a stop...