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Depending on how involved, may be possible to do in conjunction with #1321 -- putting R12, however, as there are changes to scoring. Please let us know what works best for you,
Rescue Section
TEX…
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https://clinical-db.scilifelab.se:8083/cust003/17097/f91382d9b50c55abc2aa12175f4b8a81
1. I can not unselect it... would be good if possible in case of mistake/regrets :)
2. I've click classify bu…
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The current use of DomainEntity in ValueSets is confusing and appears to add complexity without much benefit. This is one of a series of proposals for simplifying or modeling our approach. We (@bpow…
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1. Running on a single sample with ACMG genes (URL at bottom),
2. Analyze all (and call all),
3. Select RYR2 - a pretty big gene,
4. Apply filters,
5. Clear all filters. Takes quite a few seconds …
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1. (done)Hover over bookmark in bookmarks side panel should show full tooltip (like current click behavior, minus actually loading the gene?
2. (done) Show HGVSp (abbreviated) in bookmarks side panel…
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question1:
In ACMG Paper, it writes "in the last 50 base pairs of the penultimate exon" ,
why in our interVar the last 50 base for the last exon ???
try:
if (float(k…
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@tnavatar @bpow @cbizon
We discussed and ultimately added an API section under our "tech" folder for this documentation. I am trying to formalize (in my head) what this is.
Is it simply our JSON…
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The ACMG gene list has been updated and we should be up to date.
1. Remove MYLK
2. Add ATP7B, BMPR1A, SMAD4, OTC
3. Link to paper: http://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016190a.htm…
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```
"criterion": {
"cg:id": "PM3",
"cg:type": "Criterion",
"description": "For recessive disorders, detected in trans with a pathogenic variant",
"…
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In the *.intervar result , I see SIFT_score and CADD_raw . But CADD_raw and SIFT_score are not used to judge the ACMG category . Why are they in the result?