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Configuration file: db_main.toml
Description: miRDB is an online database for miRNA target prediction and functional annotations.
```toml
[db_mirdb]
source_url = "http://mirdb.org/download/miRDB…
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**Is your feature request related to a problem? Please describe.**
Implement `PS2` and `PM6` criteria. However, InterVar doesn't implement this criteria (manual scoring), so it can be tricky.
**De…
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The score of this publication (ESEseqs, https://doi.org/10.1101/gr.119628.110) defines splice scores of `MISSENSE`and `SYNONYMOUS` variants.
Here is an implementation of the ESEseqs: https://github.…
visze updated
7 years ago
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Hello...
I used gemini and vcf2db previously with great successful, but I'm having issues when using a new set of VCFs I've just received..
I annotated with snpeff in the my usual way but receiv…
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https://github.com/Illumina/SpliceAI
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I used intervar to predict mutations and found no pathogenic entries, what went wrong?
In addition, I found that some loci are contradictory, such as the situation that PM1 and BS1 are satisfied at…
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Preferred gene-related syndrome label
PIK3R2-related Overgrowth spectrum
Synonyms
MONDO:0100283
Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology br…
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**Preferred gene-related syndrome label**
MTOR-related Overgrowth spectrum
**Synonyms**
MONDO:0100283
**Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite o…
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### Is your feature related to a problem?
We are trying to use wf-human-variation to find pathogenic variants in nanopore sequencing data of patients that have already had whole exome sequencing but …
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Preferred gene-related syndrome label
PIK3CA-related Overgrowth spectrum
Synonyms
MONDO:0100283
Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology br…