iobio / gene.iobio

Gene.iobio vue
MIT License
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Is gnomAD vcf that we use in annotateVariants out-of-date? There is a small difference in counts. #1014

Open tonydisera opened 11 months ago

tonydisera commented 11 months ago

Load demo data. Click on SMARCA2. Find the deletion variant in the Variants card and click on it. (rs113070757). Now click on the link out icon next to the allele frequency. The allele count and number of homozygotes reported in gene.iobio differ slightly from the ones shown on the gnomAD web page.

Screenshot 2023-10-19 at 8 37 03 PM Screenshot 2023-10-19 at 8 38 15 PM