Pathogenic predictors for Drosophila variants?
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5.0 years ago
darink ▴ 10

Coming from a human genetics background, I have been spoiled for all the ready made tools I have to feed a list of variants into and get effect predictions out (PolyPhen2, CADD, SIFT, etc).

Are there any similar tools for Drosophila? I have a list of ~10,000 variants I'd like to score/rank by some prediction of pathogenicity.

Thanks for any suggestions.

genome variants Drosophila • 1.1k views
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5.0 years ago
Denise CS ★ 5.2k

Ensembl Metazoa does provide the Variant Effect Predictor (VEP) for fruit fly. You can use the online version (if your 10K variants are less than 50MB) or their Perl script. There used to be REST API endpoint for the VEP in Ensembl Genomes, so it should work for Drosophila. Be aware though that now there is a joint REST server for Ensembl and Ensembl Genomes in Ensembl 96.

Happy VEPing.

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Thank you. My bad for not adding that I have already run VEP (and snpeff). While VEP output is useful it doesn't distinguish (for example) between conservative and non-conservative amino acid substitutions. I think it looks like my next best step is to generate PhyloP scores via the PHAST package.

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