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Dear authors,
first thank you for your work!
I'm trying to recreate the results from section "3.5 Identifying functional genetic variants with DNABERT".
Which model should be used to compute the …
nc1m updated
2 months ago
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### Description of feature
Hi, I was wondering if you guys have thought to give the pipeline an option to use variants called from a DNA-seq(typically wgs) pipeline to use as input into "ASE read cou…
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Hi all,
There is invalid [entryTypeDefinition.aCollectionOf](https://github.com/ga4gh-beacon/beacon-v2/blob/7c64fdf3b18c36cfa7279d610982224e1bf48c4d/framework/json/configuration/entryTypeDefinition…
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Hi! I'm quite new to bioinformatics and I'm running into an issue using krisp_vcf where I get the following error:
(py311) Janehol@bcsumx01:~/krisp$ krisp_vcf krisp_metadata.csv Race_1.masked.fa --…
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In https://groups.google.com/g/hgvs-discuss/c/7I1jP5m7bvk/m/wjUzIk0zAwAJ, Matt Ducar wrote:
> ⋮
> I get the following printout:
> NC_000017.10:g.7578369A>C
>
> NM_000546.5:c.559+2T>G
>
> Th…
reece updated
5 months ago
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Add an option to filter by genomic position or specific variants instead of gene names. This will enhance the flexibility of the script, allowing users to target specific regions or variants more prec…
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Hello,
The genomic positions of variants are not identical between the *.vcf output and the standard *.aldy output. The positions in the VCF file are correct, but the output in the *aldy file is alw…
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`chr18 22492810 Minda_59 N . PASS SVLEN=730112;SVTYPE=DUP;SUPP_VEC=PB_severus_DUP2962,PB_r_191,ONT_severus_DUP3355,ONT_r_113,ILL_MantaDUP:TANDEM:239447:0:1:0:0:0,PB_ID_40649_2,ONT_ID_69814_2,ILL_2890…
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### Submitter Name
Arpad Danos
### Submitter Affiliation
Washington University
### Submitter Github Handle
arpaddanos
### Additional Submitter Details
Staff Scientist at Griffith Lab
### Proje…