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![img_0877](https://user-images.githubusercontent.com/31218514/31114100-0569e408-a84f-11e7-8e2e-bf4eff2d96fd.JPG)
wdeMacBook:InterVar-1.0.8 wj$ python Intervar.py -i example/ex1.avinput -o example/…
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![image](https://user-images.githubusercontent.com/22081541/27181371-99dc5074-5194-11e7-8ca8-dfd77e812c7f.png)
In demo data:
Example: hover over on RAI1 harmful variants glyph would display "Conta…
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Paper needs to be read carefully for relevance
https://dx.doi.org/10.1093/bioinformatics/btu703
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Pathogenic variants should be added when case is solved and closed
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Hi,
not sure this is the right repo. I am happy to open this issue anywhere else, if needed.
In the ReMM-file `ReMM.v0.3.1.tsv.gz`, I cannot find a score for the position `14:7180825-7180827C>A`…
drseb updated
7 years ago
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Open the demo data, and analyze all
Then call on MYLK2. Before the calling finishes, click on the filters and go through the defined filters
We don't have any called variants yet, so we only see res…
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When one clicks on the labels in the legend of the lollipop charts (Pathogenic, Benign, Uncertain), that should toggle the selection of those variants in the lollipop charts, and when a class of varia…
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ClinVar - NCBI database containing the relationships between human variations and phenotypes http://www.ncbi.nlm.nih.gov/clinvar/
Download sources:
Complete public data set (XML): (ftp://ftp.ncbi.nlm…
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Proposal by Michael Baudis, please elaborate if insufficient.
For example:
INS[ATGC]+
DEL[0-9]*
DUP
Discussion on interpretation and use cases was already started in this document: https://docs.goog…