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Especially on general report to speed up medical assessment - this apparently is one time thief when reading.
- show details for ACMG classification ie the different criteria fulfilled
- show sub po…
dnil updated
7 months ago
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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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I tried out AnnotSV v3.0.4 for about 20 samples, and none of their SVs are scored rank-2 in `ACMG_class` column. Here is an ranks for one of the WGS samples:
```sh
$cat out.tsv | awk 'BEGIN{FS="\t…
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**Is your feature request related to a problem? Please describe.**
The splice region is based on the sequence ontology setting. However, ACMG 2021 recommends different settings.
**Describe the…
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属性列根据需求修改完成后,测试3轮,今日启用。
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### Submitter Name
Kyle Moad/Rachel Karchin
### Submitter Affiliation
Johns Hopkins
### Submitter Github Handle
kmoad/RachelKarchin
### Additional Submitter Details
We are the PI and an enginee…
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~- Which columns can be used for prediction~
~- Which columns are useless~
~- Which columns are targets (cosmicfathMMPrediction, ACMG_class) - which are available~
~- What is the CSQ data~
[spreadshe…
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Variant page in the Clinical Structural variants module: Is it possible to link to a fillable CNV classification template saved in Scout after filling in, as for the ACMG calssification in the SNVs/i…
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Annotate input association and LD file with following datasets:
- [ ] [clinVar - UCSC table](http://ucscbrowser.genap.ca/cgi-bin/hgTables?db=hg19&hgta_group=phenDis&hgta_track=clinvar&hgta_table=clinv…
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We need to export Variant Information including Interpretation from Varfish into a database for bookkeeping and at some point for creation of reports.
This process is also currently used to create …