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This is mainly in regards to changes to Groups and Families being overwritten if multiple Add New Family/Individual to this Group/Family are opened at once. The parent Family/Group object in the multi…
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hi for this variant
https://clinical-db.scilifelab.se:8083/cust003/15047/variants/ba25f792bab229442b25ea240215ac16
the ENsemble transript ENST00000401675 correspond to NM_001301339 not to NM_213720.
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1. Gene
2. HGVS nucleotide - suffix portion only - with the reference transcript listed above the table. See http://arup.utah.edu/database/BRCA/Variants/BRCA1
3. As above, with the protein changes
4.…
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Implement Variant Curation, including:
1. Metadata
2. Pathogenic evidence
3. Curation Palette variant display.
#### Pathogenic Evidence Display
 should also include gene names from candidate variants that have been entered, with pathogenic s…
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This is a view of the GDM that calculates the current summary and provisional assertions.
Apparently summaries and assertions are PER curator. Summary is autogenerated.
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Here is my output of python stmp.py --test. I have the correct version of everything except Annovar, where I have the latest version instead of the March 2015 version (since the March 2015 version is…
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Gene sections will be unified by PR https://github.com/phenotips/phenotips/pull/1742, but this uses the same field for candidate, solved, and excluded genes, so matching will then incorrectly be done …
buske updated
9 years ago
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For the following:
Please see #369 re change in button
@tsneddon can you please confirm/edit as you wish:
**Choice 1** (depending on degree of difficulty for beta)
- Edit Family
- Edit Individual …
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Simply knowing a variant is in ClinVar isn't especially useful as many are marked as benign or likely benign.
I suggest we only flag ClinVar variants marked as pathogenic or likely pathogenic. Altern…