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The following 210 genes used to be annotated to "monogenic disease"
https://www.pombase.org/results/from/id/707b3611-0b71-4ebd-9ee1-9326e44d76c6
Possibly not all are, but most do appear to be fr…
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Following investigations about issue #47, I'm a bit puzzled with the evolution workflow and the resulting behavior.
It seems to me that on most tasks, Elite selection and Elitist reinsertion are cons…
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Information about traits can be retrieved from a static, periodically updated endpoint https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/variant_summary.txt.gz. There is an accompanying checksum …
tskir updated
4 years ago
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Hello and thanks for the amazing software, we are using it in our repo and our alignments look great!
Some days ago I decided to try to load the bigbed tracks that UCSC is providing as clinvar trac…
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https://mp.weixin.qq.com/s/tlbauxhCZLbeclQQuWhXuQ
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I feel the current use of (meta) data is a bit confusing. Not sure how to resolve it but one option is to duplicate the criteria if applicable for both.
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Genetic evidence linking HTT to huntington disease has changed from trinucleotide expansion to inframe deletion.
From [Entrez Gene](https://www.ncbi.nlm.nih.gov/gene/3064): "Huntington's disease, …
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Hi,
I've been hitting this error on a couple of bam files that I have tried. I attached a screenshot of the area causing the error in igv viewer. Input and error are below. The file already has read …
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- [x] I have searched open and closed issues for duplicates
- [x] I am submitting a bug report for existing functionality that does not work as intended
- [x] I have read https://github.com/sign…
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We mentioned this during the Samples meeting last week. @ficolo was pointed as the one to lead this profile. Maybe @CarlosHorro could help as well?