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Hi,
I am reading the exac paper, and interested in the method of creation of PLI,
however, I am confused with this:
>Here, PTVi represents the observed number of PTVs in gene i and N is sample si…
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When I am using a file option with -genes both on local HDFS it does not work. If I use http it works.
My question is what are supported protocols for -genes?
**Does not work:**
/home/sm/mango-dis…
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I think it would be interesting to also show known de novo variants in a gene (http://denovo-db.gs.washington.edu/denovo-db/).
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Variant annotations for consequence == 'intron_variant' are missing in the most recent releases. The variants are still present but are not annotated with a gene or consequence.
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Currently, the region page will only load a maximum of 5000 variants, however large a region is requested. This is done to prevent someone from, for example, requesting a region spanning all of chromo…
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Helpful to have in:
https://github.com/NCATS-Tangerine/cq-notebooks/tree/master/Orange_QB1_Benchmark_CQs/QB1.2_FA_Gene_Pathogenic_Variants
@TomConlin and @mbrush
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1) For umbrella variant fusion names where the fusion partner is unknown/unspecified we prefer the style "GENE Fusions" or "GENE FUSIONS" (e.g., ALK Fusions). I see all combinations of "GENE Fusion", …
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Currently there are quite a few duplicate gene phenotype associations, see here:
http://beta.monarchinitiative.org/labs/widget-scratch/disease/OMIM:274600
Without investigating, it's likely each resu…
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Hi,
I've been using exomiser to analyse WGS data for a long time, and it's the first time I notice this behaviour:
with some HPO IDs (in particular HP:0002597 and/or HP:0001626) I get 0 passed varia…