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Published 20 hours ago • verified publisher icon tonydisera
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An iobio app for examining gene variants

Results 100 gene.iobio issues
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Run Matt's 'find rare high-impact vairants' script from gene.iobio and import as bookmarks

tonydisera avatar tonydisera

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Add CLINVAR ftp resource row to genomebuild.db for GRCh37, GRCh38

tonydisera avatar tonydisera

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Phenolyzer - can't copy/paste separate terms or use copy/paste for typeahead

tonydisera avatar tonydisera

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Show OMIM entry for gene (important to show mode of inheritance for associated disorders)

tonydisera avatar tonydisera

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Show OMIM clinical synopsis information (affected systems and their phenotypes)

tonydisera avatar tonydisera

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Compound het analysis

1. Perform logical steps to identify candidate hets. 2. Include row in the prioritization table to identify hets that are potentially part of a compound het.

AlistairNWard avatar AlistairNWard

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Only report back top n number of genes from phenolyzer (250?) -- some terms give back thousands

tonydisera avatar tonydisera

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Remove VCF filter status field in variant card

tonydisera avatar tonydisera

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Chrome windows bug – filtering (toggling on/off inheritance causes browser crash)

tonydisera avatar tonydisera

bug
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Variant card shows ‘NULL’ for proband

tonydisera avatar tonydisera

bug
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verified publisher icon tonydisera

Metadata

An iobio app for examining gene variants

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