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Hey there, I recently was attempting to run the program for some SigProfilerSimulator simulations I created providing a custom BED file in the `exome` parameter. When attempting to run SigProfilerClus…
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https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/
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Hello,
Please consider the inclusion in the nomenclature of the clinical entity associated to the gene LEMD2: Marbach-Rustad progeroid syndrome.
The request comes from a clinician with a patient…
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Per this [Slack Thread](https://atgu.slack.com/files/USLACKBOT/F06EG6VH18X/csv_download_issue_for_adcy10_and_agxt), the v2 downloads appear to be showing the 'afr' set of columns twice, and skipping s…
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Hi Exomiser Team,
Firstly, apologies if this is documented somewhere and I've missed it! I have a scenario where a WGS VCF is run through exomiser and the scores are collated from the TSV files and…
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Major issue - most of the plots stop working when there are lots of samples in the database.
For example, when trying to get a trend plot with 6526 samples, 53 reports (not even that much compared …
ewels updated
4 years ago
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**Is your feature request related to a problem? Please describe.**
When using the current preset “de novo” the index and the parents are set to `0/0`. This will exclude _de novo_ hemizygous varia…
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hi Dear
if I use Whole Exome Sequencing (WES) variants in the first step of Regenie, and then use the same variants in the second step, will it affect the results?
hq
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## Describe the issue
VCF format is unparsable after annotating with GNOMAD custom VCF.
I'm using GNOMAD 4.0 VCF with some columns filtered off. When annotating using this custom VCF, the annotate…
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Hi getzlab team:
What should I do to get mutsig2CV to run if the reference genome for my maf file alignment is `hg38`
Thank you!
Hengqi Liu