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**Is your feature request related to a problem? Please describe.**
It's not immediately clear that the frequency data displayed for mito variants in seqr reflects homoplasmic AF. Furthermore, less ex…
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https://mp.weixin.qq.com/s/s0RFU9JdI7MCPhrfpiWrkA
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**Is your feature request related to a problem? Please describe.**
**Describe the solution you'd like**
Can you grant staff level access to Kristian Cibulskis (kcibul@broadinstitute.org) and Phi…
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#### What analysis module should be updated and why?
v11 histology file
#### What changes need to be made? Please provide enough detail for another participant to make the update.
Additio…
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**Is your feature request related to a problem? Please describe.**
I frequently use the "Saved Variants" tab of the Summary Data Pages to investigate cases we have received MME emails about. Searchin…
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https://mp.weixin.qq.com/s/FlX3IY7b2rdk1_gSfo7eMg
ixxmu updated
2 years ago
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A group could be formed to discuss curation best practices, data model improvements, adoption of ClinGen (MVLD) and FDA proposals, ontologies, etc.
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**Describe the bug**
Here is the question: should the ClinVar LP/P filter override any other filters when doing a seqr search? Will a non coding transcript exon variant be returned by a seqr search i…
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Example: https://mila.quebec/en/publications/
It would be nice to reuse the same code as in the Mila website. Not sure if that's 'easily' possible via RTD
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https://mp.weixin.qq.com/s/2Jey42bZuEGbltBVI5uG4g
ixxmu updated
2 years ago