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Hi, I have run tapes annotate using annovar and acmg guideline succesfully, then I want to run tapes sort to get the result in tab format, however, when I run there's an error.
Command
```
python…
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**Is your feature request related to a problem? Please describe.**
Currently user annotations of variants overwrite previous ones (except for comments). We need to store a history of the changes,…
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2019.4.15日批次的高血压项目3888样本中，todo_oldDB的位点在位点解读位点描述中只有cds，但无PEP，请查找原因。chr3:53844177,CACNA1D,c.6104G>A , p.Ser2035Asn.
位点描述：
本筛查检测出CACNA1D基因的变异，变异位点为c.6104G>A，查询ClinVar等公共数据库显示，c.6104G>A变异会导致-错义变异。该变异在g…
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辛苦添加一个判断，同时满足BS1和PM2时，就不给频率证据哈
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docker-compose.yml:
```yml
version: '3.2'
services:
exomiser:
image: exomiser/exomiser-cli:13.2.0
user: ${UID}:${GID}
environment:
- SPRING_CONFIG_LOCATION=/exomise…
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Hi,
I am trying to run mtdna server by installing it offline, however i am using nextflow first time. i am able to install the process but encountered with the error:
ERROR ~ Unable to parse con…
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Our current recommendation follows the ACMG set f clinical significance terms (P, LP, B, LB, VUS). But this approach conflates the significance classification with the asserting agent's confidence th…
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section scores are of various size - should be consistent
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@mbrush FYI - the links you are using in the wiki and ontobee entrees (geno for example) to reference the clingen models are old and not working (sorry - we weren't able to reroute them on our side).
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Larry working with Steven and Alicia on the Sequence Variant Classification v4 guideline modeling.
The goal of this ticket is to be able to represent as much (or most) of the ACMG v4 evidence codes a…