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Sub-ticket for gnomAD v4 update https://github.com/ClinGen/gene-and-variant-curation-tools/issues/47
Constraint scores in the gene-centric tab are currently from ExAC via mygene.info. Note: based o…
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Hello,
I have been using Exomiser for some time but have a specific issue that is causing some confusion:
I have a list of a handful of variants (1-3) that I want to input into Exomiser and esse…
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I've come across some strange results while filtering variants from a GATK germline small variant calling run. The full run included 57 WGS and 11 WES samples. In one region on chromosome 1, the final…
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### Description
If a project attribute is consumable and match exacly the name of an allocation attribute, autoupdate project attribute usages.
![image](https://github.com/user-attachments/assets/…
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I tried downloading the ExAC database (http://exac.broadinstitute.org/downloads), but I'm haveing trouble with downloading. It seems the folders are not available.
Could you please check?
Thank you…
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Hello, the file forweb_cleaned_exac_r03_march16_z_data_pLI_CNV-final.txt.gz which is specified in exac.py is not available. ¿Could you please provide an URL to download it?.
Best regards.
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显性遗传病【Exac-EAS、GenomAD-EAS**都未收录(在这两个数据库该位置的测序深度≥20X)或本地数据库未收录(case和control都未检出)】**,隐性遗传病【EXAC-ALL/EXAC-EAS中最大的一个小于疾病的发病率开方】
图片中深度未提取的情况下,不给PM2
![image](https://user-images.githubusercontent.com/498…
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I'm trying to create a custom data source using an ExAC VCF file. I'm running oncotator 1.9.0 in a Docker instance created an image made using the shipped Dockerfile.
If I set the --ds_foldername …
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Hi, thanks for your work, sorry I haven't understood what exacly I can do with this node, can you help me?
I can send username and pssword, but actually they are already specifed in node settings, wh…
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Hey
I run command and get some info about missing "clinvar_clnsig" column":
`python3 tapes.py sort -i test.VEP.vcf -o vepout.txt --tab`
***TAPES: SORT***
> 2021-07-14 10:28…