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see this nice list:
https://github.com/seandavi/awesome-cancer-variant-databases
related to #15, @dnahotline, @mbrush @stuppie @pnrobinson can you prioritize these and make a Dipper/Wikidata/BioTh…
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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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As you may have noticed, we made a premature decision to move to hg38, which we kind of already regret. :) But we're trying to push through, hopefully it will be slightly easier for other scout users …
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> Advanced machine learning models applied to large-scale genomics datasets hold the promise to be major drivers for genome science. Once trained, such models can serve as a tool to probe the relation…
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VCI evaluations are transformed to an EvidenceLine containing a CriterionAssessment. If the evalutation's `criteriaStatus` is `not-met`, then the transformed EvidenceLine should have evidenceStrength …
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Hello Gemini developers,
I am running into the following error when trying to load a vcf into gemini:
`insert error trying 1 at a time:
Traceback (most recent call last):
File "/gpfs/fs1/dat…
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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…