[ensembl-dev] Prediction of consequence type for novel variants
Sung Gong
sung at bio.cc
Thu Dec 9 13:19:05 GMT 2010
Hi,
I was thrilled to find that Ensembl API provides a nice script
(ftp://ftp.ensembl.org/pub/misc-scripts/) which can predict the
consequence types of novel variations.
Also, good to see a good demonstration how to use the API for that purpose:
http://www.ensembl.org/info/docs/api/variation/variation_tutorial.html
Before realising the variation API can help predicting consequence
type of novel variants, I used to use only core API to map the
position of my variants to see whether they are within coding region,
intron, exon and so on.
Now, I wondered how the variation API works for that purpose - looked
at the source code, but found it is somewhat overwhelming.
Can anybody explain how the novel prediction works internally under the hood?
Cheers,
Sung
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