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`clinical_significance` is defined in 2 places in the JSON schema, and the enumeration of values is a subset of the [ACMG guidelines](https://www.ncbi.nlm.nih.gov/clinvar/docs/clinsig/). Some of the v…
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TP53 is now an approved VCEP. We need to add their guidelines to their affiliation file:
Name: ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
U…
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Lysosomal Storage Disorders is now an approved VCEP. We need to add their guidelines to their affiliation file:
Name: ClinGen Lysosomal Storage Disorders Expert Panel Specifications to the ACMG/AMP V…
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Hello,
I tried to use CharGer on a WES vcf file processed with GATK 4.1.1.0 from hg38 bam files and annotate wih VEP 95. VCF contains 547 samples. Looking a the results all variant are classified a…
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Original comment from @malachig
The ACMG guidelines argue against use of the terms "mutation" and polymorphism. To be more consistent with these guidelines we could rename our Variant Origin value…
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This is a suggested mapping, please give your opinion if you have any other idea @henrikstranneheim @dnil . It would be nice to see what mapping you use in Lund @bjhall
| Term | Number |
| ----- …
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After moving to v0.4 and exporting phenotypic data from Rare Disease patients (Solve-RD project context), these are the fields, mostly analytical results related to **molecular diagnosis**, that would…
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Hi -- I was able to successfully run CharGer, but all variants are classified as "Uncertain Significance." Is there a setting that must be tweaked for variant annotation to work correctly? I'm guessin…
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>It is also important, in the introduction, and indeed for the presentation of information in the collated database, for the authors to be clear that the variant interpretation processes for germline …
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To support options that are helpful for evaluating evidence according to ACMG guidelines. Information to add to the my.variantinfo pop up.
Effect predictors (get prediction and score):
- REVEL
- …