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User reported: https://groups.google.com/u/1/g/cbioportal/c/T-QlXI66WRU
Querying for TERT:DRIVER in GENIE can result in an alteration frequency >100% (see Desmoplastic Melanoma here: https://genie.…
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Add parallel support for creating seqMeta objects.
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Dear Marc Jan Bonder,
I am sharing what I have noticed to see if other people had the same error.
I have noticed syntax errors in both [run_QTL_analysis.py] and the [run_interaction_QTL_analysis.…
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I am comparing a lifted over gtf file from LiftOff with the reference gtf using liftofftools, but get this error:
`gffutils database build failed with UNIQUE constraint failed: features.id`
The co…
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Spin off of a tangential question that arose in #240
, namely:
> What are the plain language semantics of the assertions represented in SPOKE Edges created from on CIViC records? And what SPO struc…
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Hi @joellembatchou,
So I'm running regenie for UKB data while using the burden/skat-o options.
I was wondering if there's any workaround to include variants in which the REF allele is actually …
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## Need
### TMB calculation today in BALSAMIC
The current definition is based on:
1. TMB was defined as the number of somatic, coding, base substitution, and indel mutations per megabase of genome …
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I'm trying to estimate parameters for finemapping and for some reason I the first iteration estimates the gene prior to be zero:
```
ctwas::ctwas_rss(
z_gene = z_gene_subset,
…
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Based on data-driven guides, this should allow making complex visual marks that bind to data.
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@anneodonnell commented on [Wed Jun 26 2019](https://github.com/broadinstitute/seqr/issues/924)
pext scores are Beryl's transcript aware expression score. I was hoping it could be added to the in sil…