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E.g deletion of 7q36
can use NCIT chromosome band ontology + SO for deletions, duplications etc
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@falquaddoomi and/or @putmantime Can you investigate this a little bit?
Not sure if this is intentional or not, but if it is intentional, it's confusing and not documented enough.
Example `GET`:…
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start using @edeutsch's new ARAXQuery/Expand/smartapi.py!
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exomiser failing on start, with "bus" error with test-analysis. had been successfully using on linux with java 11 though now started to fail. any help would be appreciated
```
[ exomiser-cli-13.0…
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https://central.sonatype.org/pages/ossrh-guide.html
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Hello,
I'm doing a Masters project on the utility of phenotype information for variant prioritisation and came across the conference [paper](https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=w…
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Requested by @matentzn
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The **GO** defines concepts/classes used to describe gene function, and relationships between these concepts.
**How do we use it?**
Monarch processes gene-process/function/subcellular/location ass…
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Hi @julesjacobsen ,
I found a bug in `VariantTrimmer`.
Running the following:
```java
@ParameterizedTest
@CsvSource({
"C, CGC",
"C, CC",
"CGC, C",
"CC,…
ielis updated
2 years ago
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Unsure why we are tyring to read the file in when the user presses save -- something is miswired.
```
Loinc2HpoRuntimeException: Malformed line with 8 fields: 600-7 s NOMINAL NEG HP:0031864 HPO:nva…