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Add the following text to the help text:
Expert Reviewed: denotes a reported variant which has not yet been reviewed by the ENIGMA group on behalf of BRCA Exchange
If it's easy, then add hyperlinks to…
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Hi Dr. Wang,
I want to use PennCNV to call CNV from a custom designed chicken Axiom array (96 CEL files). I followed the supplementary file from the study of "Cognitive Performance Among Carriers o…
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## Problem statement:
How to `harmonize` location information?
i.e:
For those entries without genomic location specifics, is it possible to retrieve appropriate fields and append them to the ev…
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Two things that are somewhat urgent:
1. I am trying to edit the list of ACMG evidence codes for an assertion:
https://civic.genome.wustl.edu/events/assertions/4/edit/basic
I am getting an error …
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Implement the **Provisional Interpretation** section, which consists of the following requirements:
1. Section panel title: **Provisional Interpretation**
2. A dropdown of **by Individual** or **on …
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Hello, I would like to know with you could help with some tips to start debug this problem, here is my log file:
```
N E X T F L O W ~ version 0.23.3
Launching `FindSV_core.nf` [elegant_heisenb…
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_**Please consider a new term for enlarged posterior communicating arteries.
Observed in Internal carotid agenesis.PMID:27332518.
Superclass:Abnormality of circle of Willis??**_
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BRCA2 c.8755-1G>A returns a pathogenicity of "Uncertain". The entry shows up with no icon in the search results, and accessing the element throws an error in DetailDisplay.js : renderSignificance() (o…
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It seems reformatted data tagged as 'May release' was produced from Mar (or prior to that?) NCBI clinvar data. Since April, NCBI clinvar seems to have changed how [they report aggregated clinical sign…
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Hi,
Below some testing technology terms used by the National Genetics Reference Laboratories. Could be useful for OBI. SNOMED mapping included.
Cheers
Tomasz
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Amplification Refractor…