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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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### 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**
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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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…
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I just updated to version 112 to make use of the --individual_zyg function, but i'm getting errors triggered when I run it.
My command is:
`./vep --cache --dir_cache /opt/.vep/ --no_stats --che…
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Hi! Could you please explain in more detail what these flags are for?
-gxgbin: the bin index to compute the ME effect
-k: number of random vector
-jn: number of jackknife blocks
-annot: annotat…
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Question from Jessica Hatton about the DICER1 VCEP Variant Tracker and how out of date variants are calculated, see examples below https://docs.google.com/spreadsheets/d/125xxFPtlFeBaYpRDWb4odgGIR7_cB…
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In some configurations where a frequency or pathogenicity filter is run after the initial load and filter step then the annotations for these are not present and the variants will not be filtered corr…
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### Description of feature
Could be good to do whatever can be done when we release to help prepare for validation.
I'm thinking benchmarking, GiAB, checking results...
Could be interesting to talk…