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The current API has the problem that effects are specified without a corresponding transcript. The same variant may have different effects on different transcripts, and the user/system may want to tra…
buske updated
8 years ago
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My concern is that the Clinvar variants can be a lengthy operation for well understood genes. For example, even with the pathogenic/likely pathogenic filter, BRCA2 shows over 2700 variants (screenshot…
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Hello Prof. Wang
Thanks for developing ANNOVAR! I am experiencing a small use after successfully performing a gene-based annotation for a number of GWAS variants:
I am using dbSNP151 on the hg38…
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This happens when while the variants for an initial gene selection are being loaded, the user selects a different gene. When this happens, and multiple clicks occur after the variants are loaded, the …
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The current GRCh38 RefSeq annotation (GCF_000001405.40-RS_2023_10) has [368 transcripts for BRCA1](https://www.ncbi.nlm.nih.gov/datasets/gene/id/672/products/) - up from 6 the previous version.
I c…
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I'm doing an interaction test in the UK Biobank between a particular candidate gene's rare-variant burden (100 carriers out of 500,000) and each other gene's rare-variant burden. (I specified the cand…
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When I click on, e.g. known causative and the genes are reordered, should we automatically select the top gene (assuming a gene passes)? As it stands, after selecting the filter, you usually end up wi…
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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 …
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This bug was originally raised by @iimpulse
For reference, the query: https://api-dev.monarchinitiative.org/api/bioentity/gene/MGI:98297/variants?fetch_objects=true&start=0&rows=10&facet=true&face…
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Sub-ticket for gnomAD v4 update #47
The goal of this ticket is to do the "like for like" update of the VCI population tab from gnomAD v2 to v4 data, along with deprecating a few sections of the po…