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in the variant statistic
show the number of causative variants (total number of variants)
if possible even how many as pathogenic, LP, or VUS
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These are terms that were identified by the initial pass at GeneReviews for 'avoid x'.
The number is the number of times the term was found. I do not think all of these should be added, but maybe we…
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It will contain:
- Table
- Browser
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https://beta.monarchinitiative.org/variant/ClinVarVariant:44739#disease
We should show the diseases associated with this paricular variant (available from ClinVar)
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Hi,
I was wondering how to increase the exomiser .html output of prioritized genes. I am doing a comparative analysis between the genes within the .tsv file and a reference list, however when certa…
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Hey Sigve,
Just wondering if there is any reason to have a low population frequency cut-off for germline variants? My first guess would be that predisposition variants more common than 5%, but I ad…
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Hello,
I am trying to run VEP with my custom GTF file. Currently, only gene_id and transcript_id are included in the 9th column of my GTF file. Do I need to include more features? are exon number, …
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https://beta.monarchinitiative.org/disease/MONDO:0008458
Can we assume that users will immediately grok that this disease is caused by repeat expansions?
i.e., NP_002964.3:p.Gln166(>=33)
Mayb…
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I already installed Charger and run "runDemo.sh", but I get a lot of "Warning" message
[charged.demo.log](https://github.com/ding-lab/CharGer/files/4151712/charged.demo.log)
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We're missing some gene variants in TP53 because they apparently have population AF >= 0.001. We should switch the VEP filter string to:
--filter "(MAX_AF < 0.001 or not MAX_AF) or (SOMATIC and (CL…