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@mbrush Can we dig into the stength, confidence and outcome associations that have been drafted on the 3-15-17 ClinGen cmap at our next Tuesday meeting?
I'd like to sort this out.
1) Is confidenc…
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Allow users to specify candidate variants and link to pubmed publications of the case.
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![image](https://user-images.githubusercontent.com/49857164/61701231-69886680-ad70-11e9-8417-b863fff6ac70.png)
![image](https://user-images.githubusercontent.com/49857164/61701272-786f1900-ad70-11e9-…
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When I ran AnnotSV using Singularity, it runs into error `couldn't open "/usr/local/etc/AnnotSV/application.properties": no such file or directory`. I manually checked the container and the file `appl…
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These will require additional data, so will fit well with the 14.0.0 data-upgrade theme.
- [x] PS1 - "Same amino acid change as a previously established pathogenic variant regardless of nucleotide …
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Initial notes on proposed scope and definition of these VA type, based on requirements and considerations documented [here](https://docs.google.com/document/d/1J4AqGDEqyK8KAzfiowgHYKJNvzHuwHSHgkN9dleL…
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collecting references and annotations --
1. [VarCover: Allele Min-Set Cover Software](https://www.sciencedirect.com/science/article/abs/pii/S1525157819304143)
>To facilitate reference-material s…
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The **'Case-Control' Annotation Type** we proposed a Variant Annotation category in our initial list [here](https://docs.google.com/document/d/1csUrC4kX6G1V1GIz07btQQ3oL_cdDPJShuauL_uCjEw/edit#headin…
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Hello, after update from 3.3.6 to 3.4.2 our output lost `TAD_coordinate` and `ENCODE_experiment` columns.
I haven't found any info about it in [changelog](https://github.com/lgmgeo/AnnotSV/blob/mas…
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Here we consider the types of higher-order **clinical significance** annotations that link 'variants' to 'conditions' to which they might contribute or impact clinical management of, and which we migh…